oversight

Newborn Screening: Characteristics of State Programs

Published by the Government Accountability Office on 2003-03-17.

Below is a raw (and likely hideous) rendition of the original report. (PDF)

             United States General Accounting Office

GAO          Report to Congressional Requesters




March 2003
             NEWBORN
             SCREENING
             Characteristics of
             State Programs




GAO-03-449
                                               March 2003


                                               NEWBORN SCREENING

                                               Characteristics of State Programs
Highlights of GAO-03-449, a report to
Congressional Requesters




Each year state newborn screening              While the number of genetic and metabolic disorders included in state
programs test 4 million newborns               newborn screening programs ranges from 4 to 36, most states screen for 8 or
for disorders that require early               fewer disorders. In deciding which disorders to include, states generally
detection and treatment to prevent             consider similar criteria, such as whether the disorder is treatable. States also
serious illness or death. GAO was              consider the cost of screening for additional disorders. HHS’s Health
asked to provide the Congress with
information on the variations                  Resources and Services Administration is funding an expert group to assist it
among state newborn screening                  in developing a recommended set of disorders for which all states should
programs, including information on             screen and criteria for selecting disorders.
criteria considered in selecting
disorders to include in state                  Most state newborn screening programs have similar practices for
programs, education for parents                administering and funding their programs. Almost all states provide education
and providers about newborn                    on their newborn screening program for parents and providers, but fewer than
screening programs, and programs’              one-fourth inform parents of their option to obtain tests for additional
expenditures and funding sources.              disorders not included in the state’s program. State programs are primarily
To collect this information, GAO               funded through fees collected from health care providers, who may receive
surveyed newborn screening
                                               payments from Medicaid and other third-party payers. Nationwide, fees
programs for genetic and metabolic
disorders in all 50 states and the             funded 64 percent of states’ 2001 fiscal year program expenditures of over
District of Columbia. GAO was                  $120 million.
also asked to provide information
on efforts by the Department of                All newborn screening laboratories participate in a quality assurance program
Health and Human Services (HHS)                offered by HHS’s Centers for Disease Control and Prevention, which assists
and states to evaluate the quality of          programs in evaluating the quality of their laboratories. All states require
newborn screening programs, state              newborn screening, and state statutes that govern screening usually do not
laws and regulations that address              require parental consent. However, 33 states’ newborn screening statutes or
parental consent for newborn                   regulations allow exemptions from screening for religious reasons, and 13
screening, and state laws and                  additional states’ newborn screening statutes or regulations allow exemptions
regulations that address                       for any reason. Newborn screening statutes and regulations in over half the
confidentiality issues.                        states contain confidentiality provisions, but these provisions are often subject
                                               to exceptions.

                                               HHS said that the report presents a thorough summary of state newborn
                                               screening programs’ current practices.

                                               Disorders Most States Included in Their Newborn Screening Programs as of December 2002

                                                                                                                                                  a
                                                   Disorder                                                                        Number of states
                                                   Phenylketonuria                                                                               51
                                                   Congenital hypothyroidism                                                                     51
                                                   Galactosemia                                                                                  50
                                                   Sickle cell diseases                                                                          44
                                                   Congenital adrenal hyperplasia                                                                32
www.gao.gov/cgi-bin/getrpt?GAO-03-449.         Source: National Newborn Screening and Genetics Resource Center.


To view the full report, including the scope   Note: This table does not include states that provide screening for the disorders to selected
and methodology, click on the link above.      populations, as part of pilot programs, or by request.
For more information, contact Marjorie Kanof
at (202) 512-7119.                             a
                                               “States” refers to the 50 states and the District of Columbia.
Contents


Letter                                                                                    1
               Results in Brief                                                           2
               Background                                                                 4
               Disorders Included in State Newborn Screening Programs Vary,
                 but Administration of Program Components Is Similar                      8
               State Spending on Newborn Screening Varies, and Majority of State
                 Programs Receive Most Funding from Fees                                14
               Newborn Screening Quality Assurance Efforts Focus on
                 Laboratory Testing and Performance Monitoring                          17
               States Generally Do Not Require Consent for Newborn Screening
                 and Most Limit Disclosure of Screening Information                     21
               Agency Comments                                                          26

Appendix I     Scope and Methodology                                                     28



Appendix II    Number of Disorders Included in State Newborn
               Screening Programs, December 2002                                         31



Appendix III   Information on Disorders Most Commonly
               Included in State Newborn Screening Programs                              33



Appendix IV    Selected Disorders States Screen for Using
               MS/MS and Number of States That Screen for
               Each, December 2002                                                       34



Appendix V     State Newborn Screening Program Fees and
               Expenditures Per Infant Screened                                          35



Appendix VI    Comments from the Department of Health and
               Human Services                                                            37




               Page i                           GAO-03-449 State Newborn Screening Programs
Appendix VII   GAO Contact and Staff Acknowledgments                                     42
               GAO Contact                                                              42
               Acknowledgments                                                          42


Tables
               Table 1: Disorders Most Commonly Included in State Newborn
                        Screening Programs, December 2002                                 9
               Table 2: Categories of Individuals Represented on States’ Newborn
                        Screening Advisory Committees                                   12
               Table 3: Number of States Notifying Specific Parties of Newborn
                        Screening Results                                               13
               Table 4: Funding Sources for State Newborn Screening Programs,
                        as Percentage of Nationwide Program Expenditures, State
                        Fiscal Year 2001                                                16
               Table 5: Basis on Which Newborn Screening Exemption Is
                        Granted, by State                                               22
               Table 6: Exceptions to Confidentiality Requirements in States’
                        Genetic Privacy Laws                                            25




               Page ii                          GAO-03-449 State Newborn Screening Programs
Abbreviations

AAP               American Academy of Pediatrics
APHL              Association of Public Health Laboratories
CDC               Centers for Disease Control and Prevention
CLIA              Clinical Laboratory Improvement Amendments of 1988
CMS               Centers for Medicare & Medicaid Services
CORN              Council of Regional Networks for Genetic Services
HHS               Department of Health and Human Services
HRSA              Health Resources and Services Administration
MCAD              medium-chain acyl-CoA dehydrogenase deficiency
MS/MS             tandem mass spectrometry
NCSL              National Conference of State Legislatures
NIH               National Institutes of Health
NSQAP             Newborn Screening Quality Assurance Program
PKU               phenylketonuria




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Page iii                                  GAO-03-449 State Newborn Screening Programs
United States General Accounting Office
Washington, DC 20548




                                   March 17, 2003

                                   The Honorable Christopher J. Dodd
                                   The Honorable Mike DeWine
                                   United States Senate

                                   Each year newborn screening programs in all the states test 4 million
                                   newborns to identify those who may have specific genetic and metabolic
                                   disorders that could threaten their life or long-term health.1 Early
                                   detection, diagnosis, and treatment of these disorders may prevent a
                                   child’s death, serious illness, or disability. For example, children with the
                                   metabolic disorder phenylketonuria (commonly referred to as PKU)
                                   cannot properly metabolize common foods, including milk and meat, and
                                   need to be placed on a special diet to avoid mental retardation. Children
                                   with sickle cell diseases, which are genetic blood disorders, can receive
                                   antibiotic treatment to reduce the risk of bacterial infections.

                                   Newborn screening is a state public health activity, with each state
                                   responsible for designing and implementing its own program. For
                                   example, each state decides which disorders to include in its screening
                                   program. To assist the Congress as it considers actions related to newborn
                                   screening, you asked us to provide information on the variations among
                                   state newborn screening programs. In response to your request, this report
                                   provides information on (1) the disorders tested for in each state; how
                                   disorders are selected, including the use of advisory committees; and how
                                   states educate parents and health care providers about newborn
                                   screening, notify them of screening results, and follow up on abnormal
                                   results, (2) state newborn screening programs’ expenditures and funding
                                   sources, (3) efforts by the Department of Health and Human Services
                                   (HHS) and states to monitor and evaluate the quality of state newborn
                                   screening programs, and (4) how state laws address consent and privacy
                                   issues related to newborn screening. As you requested, this report focuses
                                   only on newborn screening for genetic and metabolic disorders and does
                                   not include information on screening programs for hearing and infectious
                                   diseases.




                                   1
                                    In this report, “states” refers to the 50 states and the District of Columbia.



                                   Page 1                                       GAO-03-449 State Newborn Screening Programs
                   To provide information on state newborn screening programs, we
                   surveyed state health officers in all the states during October and
                   November 2002. The survey collected information on the laboratory and
                   program administration/follow-up components of states’ newborn
                   screening programs, including their expenditures and funding sources. For
                   the purposes of the survey and this report, follow-up activities include
                   activities that are provided in response to abnormal screening results,
                   such as confirmation of diagnosis and referral for treatment. We did not
                   ask for information on disease management and treatment services. We
                   spoke with staff of several states’ newborn screening programs to clarify
                   survey responses and to obtain additional, more detailed information. We
                   also reviewed information compiled by the National Newborn Screening
                   and Genetics Resource Center, a project funded by HHS’s Health
                   Resources and Services Administration (HRSA), which collects
                   information on state newborn screening programs. In addition, we
                   reviewed documents and interviewed Centers for Disease Control and
                   Prevention (CDC) and HRSA staff on their efforts to monitor and evaluate
                   the quality of state newborn screening programs. To determine how state
                   laws address consent and privacy issues related to newborn screening, we
                   analyzed state statutes and selected regulations that provide for newborn
                   screening for genetic and metabolic disorders, and state statutes that
                   relate to privacy of genetic information generally. To identify state
                   newborn screening statutes and regulations and state genetic privacy
                   statutes, we relied on research material provided by the National
                   Conference of State Legislatures. (For additional information on our scope
                   and methodology, see app. I.)

                   We conducted our work from June 2002 through March 2003 in
                   accordance with generally accepted government auditing standards.


                   While the number of genetic and metabolic disorders included in state
Results in Brief   newborn screening programs ranges from 4 to 36, most states screen for 8
                   or fewer disorders. Authority for deciding which disorders to include in
                   programs often rests with state health departments or boards of health,
                   which generally receive input from advisory committees. Screening for
                   certain disorders may also be mandated by state law. In deciding which
                   disorders to include in their programs, states generally consider similar
                   criteria, such as how often the disorder occurs in the population, whether
                   an effective screening test exists, and whether the disorder is treatable.
                   States also reported that they consider the cost of screening for additional
                   disorders, which may include costs associated with performing more tests,
                   acquiring and implementing new technology, and following up on


                   Page 2                             GAO-03-449 State Newborn Screening Programs
abnormal results. With the exception of federal recommendations that
newborns be screened for PKU, congenital hypothyroidism, and sickle cell
diseases, there are no federal guidelines on the set of disorders that should
be included in state screening programs. HRSA is funding an expert group
to assist it in developing a recommended set of disorders for which all
states should screen and criteria for selecting disorders. Almost all states
provide education on their screening program for parents and providers.
However, fewer than one-fourth of the states inform parents of their
option to obtain testing for additional genetic and metabolic disorders not
included in the state’s program. All state programs notify a health care
provider, such as a physician or hospital, of abnormal newborn screening
results; fewer than half routinely notify parents directly of abnormal
results. All states also follow up on abnormal results; their follow-up
activities may include obtaining additional laboratory information,
referring the infant for treatment, or confirming that treatment has begun.

States spent over $120 million on newborn screening in their 2001 fiscal
year, with most states spending from $20 to $40 for each infant screened.
Most of these expenditures supported the laboratory component of
screening programs, including the processing and analysis of specimens.
Nationwide, newborn screening fees funded 64 percent of programs’
expenditures. The fees are generally paid by the health care providers
submitting specimens, who in turn may receive payments from Medicaid
and other third-party payers, including private insurers. Other funding
sources included HRSA’s Maternal and Child Health Services Block Grant,
direct payments from Medicaid, and other state and federal funds.

CDC and HRSA offer services to help states monitor and evaluate the
quality of their newborn screening programs. All laboratories that perform
testing for state newborn screening programs voluntarily participate in
CDC’s Newborn Screening Quality Assurance Program (NSQAP). This
enables them to meet the federal regulatory requirement under the Clinical
Laboratory Improvement Amendments of 1988 (CLIA) to have a process
for verifying the accuracy of tests they perform. HRSA’s National Newborn
Screening and Genetics Resource Center conducts technical reviews of
individual state newborn screening programs that request them; the
Resource Center has conducted nine reviews since January 2000. These
reviews respond to specific questions raised by state officials, such as how
to implement an expansion of the state’s program. The reviewing team
also analyzes the overall state newborn screening program and provides
the state with findings and recommendations that could improve the
program. States are not obligated to implement these recommendations. In
addition to participating in federal quality assurance programs, most state


Page 3                             GAO-03-449 State Newborn Screening Programs
             newborn screening programs reported that they evaluate the quality of the
             laboratory testing or program administration/follow-up components of
             their programs.

             State newborn screening statutes usually do not require that parental
             consent be obtained before screening occurs. While all states require
             newborn screening, 33 states’ newborn screening statutes or regulations
             allow exemptions from screening for religious reasons, and 13 additional
             states’ newborn screening statutes or regulations allow exemptions for
             any reason. Newborn screening statutes and regulations in over half the
             states specify that newborn screening information is confidential, but
             these confidentiality provisions are often subject to exceptions, which
             vary across states. The most common exception allows disclosure of
             information for research purposes, provided that the child’s identity is not
             revealed and researchers comply with applicable laws for the protection
             of humans in research activities. Other exceptions include use of
             information for law enforcement and for establishing paternity. Over half
             the states have statutes that govern the collection, use, or disclosure of
             genetic information, which may also apply to genetic information obtained
             from newborn screening. While few newborn screening statutes provide
             penalties for violation of confidentiality provisions, 17 states’ genetic
             privacy statutes provide specific penalties for violating genetic privacy
             laws.

             In commenting on a draft of this report, HHS said that the report presents
             a thorough summary of state newborn screening programs’ current
             practices.


             Newborn screening programs in the United States began in the early 1960s
Background   with the development of a screening test for PKU and a system for
             collecting and transporting blood specimens on filter paper. All newborn
             screening begins with a health care provider collecting a blood specimen
             during a newborn’s first few days of life.2 The baby’s heel is pricked to
             obtain a few drops of blood, which are placed on a specimen collection
             card and sent to a laboratory for analysis. State departments of health may


             2
              All states have screening statutes or regulations that specify certain health care providers
             who are responsible for ensuring that newborns are screened, such as the attending
             physician, nurse, midwife, hospital, or other institution caring for the infant. Some state
             screening statutes and regulations include a child’s parent among those who are
             responsible for ensuring that screening occurs.




             Page 4                                     GAO-03-449 State Newborn Screening Programs
                          use their own laboratory to test samples from the dried blood spots or may
                          have a contract with a private laboratory, a laboratory at a university
                          medical school, or another state’s public laboratory.

                          Laboratories may choose among a variety of testing methods to maximize
                          the efficiency and effectiveness of their testing. A major technical advance
                          in newborn screening is use of the tandem mass spectrometer, an
                          analytical instrument that can precisely measure small amounts of
                          material and enable detection of multiple disorders from a single analysis
                          of a blood sample. Tandem mass spectrometry (MS/MS) has greatly
                          increased the number of disorders that can be detected, but it cannot
                          completely replace other analysis methods because it cannot screen for all
                          disorders included in state newborn screening programs.

                          After initial testing, state newborn screening program staff notify health
                          care providers of abnormal results because it may be necessary to verify
                          the accuracy of the initial screening result by testing a sample from a
                          second specimen or to ensure that the infant receives more extensive
                          diagnostic testing to confirm the presence of a disorder. The infant may
                          also need immediate treatment. Laboratories and state maternal and child
                          health programs generally carry out the notification process.

                          Primary care and specialty physicians are involved in various stages of the
                          newborn screening process. They generally are responsible for notifying
                          the family of abnormal screening results and may confirm initial results
                          through additional testing. If necessary, they identify appropriate
                          management and treatment options for the child. State maternal and child
                          health program staff may follow up to ensure that these activities occur.


Federal Role in Newborn   Several HHS agencies carry out activities related to newborn screening,
Screening                 including collecting and sharing information about state newborn
                          screening programs, promoting quality assurance, and funding screening
                          services. HRSA’s Maternal and Child Health Bureau has primary
                          responsibility for promoting and improving the health of infants and
                          mothers. HRSA offers grants to states, including the Maternal and Child
                          Health Services Block Grant, that state newborn screening programs may
                          use to support their newborn screening services. HRSA also funded the
                          development of the Council of Regional Networks for Genetic Services
                          (CORN) in 1985 to provide a forum for information exchange among
                          groups concerned with public health aspects of genetic services. The
                          newborn screening committee of CORN identified several areas of
                          importance to programs, including the process of selecting disorders for


                          Page 5                             GAO-03-449 State Newborn Screening Programs
screening, communication, quality assurance, and funding. It developed
guidelines in these areas to increase consistency among state newborn
screening programs3 and also began collecting data on state programs. In
1999, CORN was disbanded, and HRSA established the National Newborn
Screening and Genetics Resource Center—the Resource Center. The
Resource Center is supported by a cooperative agreement between the
Genetic Services Branch of HRSA’s Maternal and Child Health Bureau and
the University of Texas Health Science Center at San Antonio Department
of Pediatrics. The Resource Center develops annual reports on state
newborn screening activities and provides technical assistance to state
newborn screening programs. It also provides information and educational
resources to health professionals, consumers, and the public health
community.

CDC’s Newborn Screening Branch,4 in partnership with the Association of
Public Health Laboratories (APHL), operates NSQAP.5 NSQAP is a
voluntary, nonregulatory program that is designed to help state health
departments and their laboratories maintain and enhance the quality of
their newborn screening test results. In addition, CDC’s National Center
on Birth Defects and Developmental Disabilities funds research related to
newborn screening.

The Centers for Medicare & Medicaid Services’ (CMS) involvement in
newborn screening relates to its Medicaid and CLIA programs. CMS
administers Medicaid, a jointly funded, federal-state health insurance
program for certain low-income individuals, which covers newborn
screening for eligible infants. Nationwide, Medicaid finances services for
one in three births each year. Through the CLIA program,6 CMS also


3
 Council of Regional Networks for Genetic Services, “U.S. Newborn Screening System
Guidelines: Statement of the Council of Regional Networks for Genetic Services,”
Screening, vol. 1 (1992). Additional CORN guidelines were published in 2000; see Council
of Regional Networks for Genetic Services, “U.S. Newborn Screening System Guidelines II:
Follow-up of Children, Diagnosis, Management, and Evaluation—Statement of the Council
of Regional Networks for Genetic Services,” Supplement to The Journal of Pediatrics, vol.
137, no. 4 (2000).
4
The Newborn Screening Branch is in the National Center for Environmental Health’s
Department of Laboratory Services.
5
 NSQAP has a memorandum of understanding with APHL. APHL provides assistance to
NSQAP on how the program operates, including input on how to report data and which
disorders to include in NSQAP.
6
Pub. L. No. 100-578 § 2, 102 Stat. 2903, 2907.




Page 6                                      GAO-03-449 State Newborn Screening Programs
                            regulates laboratory testing performed on specimens obtained from
                            humans, including the dried blood spots used for newborn screening.
                            CLIA’s purpose is to ensure the accuracy, reliability, and timeliness of
                            laboratory test results. CLIA requires that laboratories comply with quality
                            requirements in five major areas: personnel qualifications and
                            responsibilities, quality control, patient test management, quality
                            assurance, and proficiency testing.7 Laboratories that fail to meet CLIA’s
                            quality requirements are subject to sanctions, including denial of Medicaid
                            payments.8 Through the CLIA program, laboratories that test dried blood
                            spots in connection with newborn screening must have a process for
                            verifying the accuracy of their tests at least two times each year. State
                            newborn screening laboratories can meet this requirement through
                            participation in the proficiency testing program offered by NSQAP.

                            The National Institutes of Health’s (NIH) National Institute of Child Health
                            and Human Development has sponsored research on disorders identified
                            through newborn screening, including PKU, congenital hypothyroidism,
                            and galactosemia. Research has addressed issues such as the effectiveness
                            of screening and treatments and the application of new technologies for
                            identifying additional disorders.

                            The Children’s Health Act of 2000 authorized HHS to award grants to
                            improve or expand the ability of states and localities to provide screening,
                            counseling, or health care services for newborns and children who have,
                            or are at risk for, heritable disorders and to evaluate the effectiveness of
                            these services.9 As of February 2003, funds had not been appropriated to
                            fund these grants. The act also authorized the establishment of a
                            committee to advise the Secretary of HHS on reducing the mortality and
                            morbidity of newborns born with disorders. The Secretary of HHS signed
                            the charter for this committee in February 2003.


Federal Privacy Standards   Under the Health Insurance Portability and Accountability Act of 1996,10
                            HHS developed regulations to protect the privacy of health information,


                            7
                             Proficiency testing is the process of sending sample specimens to laboratories to verify the
                            accuracy and reliability of their tests.
                            8
                            This could also result in denial of Medicare payments.
                            9
                            Pub. L. No. 106-310, § 2601, 114 Stat. 1101, 1164.
                            10
                                Pub. L. No. 104-191 § 264, 110 Stat. 1939, 2033-2034.




                            Page 7                                        GAO-03-449 State Newborn Screening Programs
                           which as defined in the regulations, would include the results of testing of
                           newborns. The regulations give individuals the right, in most cases, to
                           inspect and obtain copies of health information about themselves. In
                           addition, the regulations generally restrict health plans and certain health
                           care providers from disclosing such information to others without the
                           patient’s consent, except for purposes of treatment, payment, or
                           healthcare operations.11 While the federal regulations preempt state
                           requirements that conflict with them, states are free to enact and enforce
                           more stringent privacy protections. Most entities and individuals that are
                           covered by the regulations must be in compliance by April 14, 2003.


                           Although state newborn screening programs vary in the number of
Disorders Included in      disorders for which they screen, states generally follow similar practices
State Newborn              and criteria in selecting disorders for their programs. States also conduct
                           most other aspects of their programs in similar ways. Almost all state
Screening Programs         programs provide information for parents and conduct provider education,
Vary, but                  but fewer than one-fourth of the states provide information for parents on
                           their option to test for additional disorders not included in the state’s
Administration of          program. All state programs notify health care providers—and some also
Program Components         notify parents—about abnormal screening results, and all states reported
Is Similar                 following up on abnormal results.


Most States Screen for     Most state newborn screening programs screen for 8 disorders or fewer.
Eight Disorders or Fewer   The number of disorders included in state programs ranges from 4 to 36.
                           (See app. II for the number of disorders screened for by each state.)
                           Programs are implemented through state statutes and/or regulations,
                           which often require screening for certain disorders. According to the
                           Resource Center, all states require screening for PKU and congenital
                           hypothyroidism, and 50 states require screening for galactosemia. Table 1
                           lists the disorders most commonly included in state newborn screening
                           programs. (See app. III for information on these disorders.) Some states
                           provide screening for certain disorders to selected populations, through
                           pilot programs, or by request. For example, in addition to the 44 states that
                           require screening for sickle cell diseases for all newborns, 6 states provide
                           screening for sickle cell diseases to selected populations or through pilot




                           11
                            There are additional exceptions to facilitate compliance with state reporting requirements
                           and other public health purposes.




                           Page 8                                    GAO-03-449 State Newborn Screening Programs
programs. Some states are taking steps that could expand the number of
disorders included in their programs.12

Table 1: Disorders Most Commonly Included in State Newborn Screening
Programs, December 2002

    Disorder                                                                      Number of statesa
    PKU                                                                                          51
    Congenital hypothyroidism                                                                   51
    Galactosemia                                                                                50
    Sickle cell diseases                                                                         44
    Congenital adrenal hyperplasia                                                               32
    Biotinidase deficiency                                                                      24
    Maple syrup urine disease                                                                    24
    Homocystinuria                                                                              17

Source: National Newborn Screening and Genetics Resource Center.

Note: This table does not include states that provide screening for the disorders to selected
populations, as part of pilot programs, or by request.
a
“States” refers to the 50 states and the District of Columbia.


The criteria that state newborn screening programs reported they consider
in selecting disorders to include in their programs are generally consistent
across states. For example, they generally include how often the disorder
occurs in the population, whether an effective screening test exists to
identify the disorder, and whether the disorder is treatable. These criteria
are also consistent with recommendations of the American Academy of
Pediatrics (AAP) newborn screening task force.13 Neither the criteria states
use nor AAP’s recommendations include benchmarks, such as the lowest


12
  For example, Connecticut, which screens for 8 disorders, plans to add 3 disorders to its
program in March 2003 and is considering adding others. Mississippi, which screens for 5
disorders, is in the process of reviewing proposals from laboratories to conduct screening
for 35 additional disorders. Virginia, which screens for 8 disorders, has added medium-
chain acyl-CoA dehydrogenase deficiency (MCAD) to the state’s newborn screening
program, contingent on the program’s acquiring funding to support follow-up staff and the
purchase of necessary equipment. Children with MCAD cannot convert fat to energy, and
must avoid fasting, which might occur when the child is ill. To avoid risk of seizures, brain
damage, or death, these children must either continue eating while ill or receive nutrients
under medical supervision.
13
  American Academy of Pediatrics Newborn Screening Task Force, “Serving the Family
From Birth to the Medical Home: Newborn Screening: A Blueprint for the Future—A Call
for a National Agenda on State Newborn Screening Programs,” Pediatrics, vol. 106, no. 2
(2000). HRSA funded the task force.




Page 9                                                   GAO-03-449 State Newborn Screening Programs
incidence or prevalence rate that would be acceptable for population-
based newborn screening or measurements of treatment effectiveness or
screening reliability.

Some states reported that they are considering revising their criteria
because MS/MS can identify disorders for which treatment is not currently
available. Because MS/MS technology can be used for screening multiple
disorders in a single analysis, states may choose to include such disorders
in their testing along with disorders that can be treated.14 Twenty-one
states use MS/MS in their screening programs (see app. II); 15 the number of
disorders for which screening is conducted using MS/MS ranges from 1 to
28. (See app. IV for a list of selected disorders for which screening is
conducted using MS/MS.)

Many states consider cost when selecting disorders to include in their
newborn screening program. In addition, several states told us that they
would need additional funding to expand the number of disorders in their
program. The costs associated with adding disorders include costs of
additional testing, educating parents and providers, and following up on
abnormal results. Additional costs may also be associated with acquiring
and implementing new technology, such as purchasing MS/MS technology
and training staff in its use.

With the exception of federal recommendations that newborns be
screened for three specific disorders, there are no federal guidelines on
the set of disorders that should be included in state screening programs.
The U.S. Preventive Services Task Force, which is supported by HHS’s
Agency for Healthcare Research and Quality, has recommended screening
for sickle cell diseases, PKU, and congenital hypothyroidism. In addition,
NIH issued a consensus statement recommending that all newborns be
screened for sickle cell diseases, as well as a consensus statement
concluding that genetic testing for PKU has been very successful in the
prevention of severe mental retardation.16 AAP’s newborn screening task



14
  There has been discussion among experts about the appropriate use of MS/MS in
newborn screening. This has focused on several issues, including whether the incidence
and severity of the disorders detected by MS/MS justifies screening and whether effective
treatment would be available for disorders detected.
15
 Twelve additional states reported they plan to begin using MS/MS by the end of 2003.
16
 NIH consensus statements are prepared by a nonfederal panel of experts and reflect the
panel’s assessment of medical knowledge available at the time the statement is written.




Page 10                                   GAO-03-449 State Newborn Screening Programs
force reported that infants born anywhere in the U.S. should have access
to screening tests and procedures that meet accepted national standards
and guidelines. The task force recommended that federal and state public
health agencies, in partnership with health professionals and consumers,
develop and disseminate model state regulations to guide implementation
of state newborn screening systems, including the development of criteria
for selecting disorders. In 2001, HRSA awarded a contract to the American
College of Medical Genetics to convene an expert group to assist it in
developing a recommended set of disorders for which all states should
screen and criteria that states should consider when adding to or revising
the disorders in their newborn screening programs.17 The expert group is
expected to make recommendations to HRSA in spring 2004. Some state
officials told us they have concerns about the development of a uniform
set of disorders because states differ in incidence rates for disorders and
capacity for providing follow-up and treatment.

Most states reported that the state health department or board of health
has authority to select the disorders included in newborn screening
programs. Six states reported that they could not modify the disorders
included in their newborn screening programs without legislation. Forty-
five states reported that they have an advisory committee that is involved
in selecting disorders; such a committee generally makes
recommendations to the state health department or board of health. Most
states reported that their advisory committee is not required by state
statute or regulation. We found that most newborn screening advisory
committees are multidisciplinary and include physicians, other health
workers, and individuals with disorders or parents of children with
disorders. (See table 2.)




17
 The expert group is also charged with recommending minimum standards for state
newborn screening programs to use in assessing and evaluating their programs, and with
recommending health outcomes that would be appropriate to use in monitoring and
evaluating newborn screening. In addition, it is to consider the value of establishing a
national process for the evaluation and oversight of newborn screening programs.




Page 11                                   GAO-03-449 State Newborn Screening Programs
                            Table 2: Categories of Individuals Represented on States’ Newborn Screening
                            Advisory Committees

                                Category                                                                                      Number of statesa
                                                                   b
                                Specialty medical care physicians                                                                            44
                                Laboratory specialists                                                                                      41
                                Pediatricians and/or other primary health care providers                                                     40
                                Health department staff who conduct follow-up activities                                                     38
                                Individuals with disorders or parents of children with disorders                                             35
                                Ethicists                                                                                                    16
                                Otherc                                                                                                       28

                            Source: GAO Survey of State Newborn Screening Programs for Genetic and Metabolic Disorders, October 21, 2002.
                            a
                                Forty-four states and the District of Columbia reported that they have an advisory committee.
                            b
                                Includes metabolic specialists, endocrinologists, geneticists, and hematologists.
                            c
                            Includes representatives from state hospital associations, state March of Dimes chapters, social
                            workers, lawyers, other state and local health department staff, dieticians, and state legislators.


Most States Provide         Almost all states reported they offer information for parents and education
Information for Parents     for providers on their newborn screening program. Eleven states have
and Conduct Provider        newborn screening statutes requiring that parents of newborns be
                            informed of the program at the time of screening.18 In most states,
Education, but Few          information for parents includes how the blood specimen is obtained, the
Provide Information to      disorders included in the state program, and how parents will be notified
Parents on Screening Not    of testing results. Seven states reported they include information for
Included in State Program   parents on their option to obtain testing for additional disorders that are
                            not included in the state’s program, but that may be available to them
                            through other laboratories.19 Provider education offered by states includes
                            information on the collection and submission of specimens, the
                            management of the disorders, and medical specialists available to treat the
                            disorders.




                            18
                              The 11 states are California, the District of Columbia, Delaware, Maryland, Missouri,
                            Nebraska, New Mexico, Oregon, Vermont, Wisconsin, and Wyoming. Some of these state
                            statutes require that specific information be provided to parents, such as the purpose of the
                            screening and the risks involved. Other statutes do not specify the type of information that
                            should be communicated to parents.
                            19
                              Five of these states and five additional states reported that they communicate information
                            to health care providers on parents’ option to obtain testing for additional disorders that
                            are not included in the state’s program.




                            Page 12                                                   GAO-03-449 State Newborn Screening Programs
                          While state newborn screening programs produce or compile materials for
                          parents, they generally do not provide them directly to parents and are
                          unable to say when, or if, parents actually receive them. Rather, the state
                          provides materials to other individuals, including hospital staff, midwives,
                          pediatricians, primary care providers, and local health department staff,
                          who are expected to share them with parents. Over half the states
                          reported that their materials for parents are available in English and one
                          or more other languages.


States Generally Notify   The parties states notify about newborn screening results vary, depending
Multiple Parties of       on whether the result is abnormal20 or normal. (See table 3.) All states
Abnormal and Normal       reported that for abnormal results, they notify the physician of record or
                          the birth or submitting hospital. The physician or hospital, in turn, is
Screening Results and     generally responsible for notifying parents. Most states reported they
Follow Up on Abnormal     notify physicians and hospitals by telephone; many states reported also
Results                   notifying them by letter, fax, or E-mail. While the AAP newborn screening
                          task force recommended that programs notify parents or guardians, fewer
                          than half the states routinely notify parents directly of abnormal results,
                          and no state routinely notifies parents directly of normal results. States
                          that notify parents generally said that notification of parents was by letter.

                          Table 3: Number of States Notifying Specific Parties of Newborn Screening Results

                                                                                                  Number of states
                              Party notified                                              Abnormal results       Normal results
                              Birth or submitting hospital                                             50                   49
                              Physician of record                                                      51                   34
                                                                                                                               a
                              Specialty provider                                                       34
                              Parent                                                                   22                     0
                                    b
                              Other                                                                    16                     7

                          Source: GAO Survey of State Newborn Screening Programs for Genetic and Metabolic Disorders, October 21, 2002.
                          a
                              “States” refers to the 50 states and the District of Columbia.
                          b
                           Because specialty care is not necessary for children with normal results, we did not ask states if a
                          specialty provider was notified.
                          c
                              Includes midwives, county and local health departments, and the infant’s primary care physician.




                          20
                           There are two types of abnormal results. Those that are strongly positive require the
                          newborn to immediately receive diagnostic tests or treatment. Those for which the
                          reliability of the result is questionable require testing of a sample from a second specimen,
                          which is less time-critical.




                          Page 13                                                   GAO-03-449 State Newborn Screening Programs
                       States also reported that they take other actions in response to abnormal
                       screening results. About three-fourths of states reported testing samples
                       from second specimens when the initial specimen is abnormal or
                       unsatisfactory.21 All states reported conducting follow-up activities. Over
                       90 percent of states said that their follow-up activities include obtaining
                       additional laboratory information to confirm the presence of a disorder,
                       which could include obtaining the results of diagnostic tests performed by
                       other laboratories. Almost all states reported that they refer infants with
                       disorders for treatment and most follow up to confirm that treatment has
                       begun. About two-thirds of the states reported that they conduct or fund
                       periodic follow-up of newborns diagnosed with a disorder, which could
                       include ensuring that they continue to receive treatment and monitoring
                       their health status. According to Resource Center data on state newborn
                       screening programs, the length of the follow-up period varies among
                       disorders and across states.22


                       States reported that they spent over $120 million on newborn screening in
State Spending on      state fiscal year 2001, with individual states’ expenditures ranging from
Newborn Screening      $87,000 to about $27 million. Seventy-four percent of these expenditures
                       supported laboratory activities. The primary funding source for most
Varies, and Majority   states’ newborn screening expenditures was newborn screening fees. The
of State Programs      fees are generally paid by health care providers submitting specimens;
                       they in turn may receive payments from Medicaid and other third-party
Receive Most Funding   payers, including private insurers. Other funding sources that states
from Fees              identified included the Maternal and Child Health Services Block Grant,
                       direct payments from Medicaid, and other state and federal funds.




                       21
                         One state reported that testing samples from second specimens is required if the first
                       specimen is collected before the newborn is 48 hours old, regardless of whether the initial
                       test result was normal or abnormal. Thirteen states reported testing samples from second
                       specimens for all newborns for all tests included in the initial screen.
                       22
                        National Newborn Screening and Genetics Resource Center, National Newborn
                       Screening Report - 1999, (Austin, Tex.: July 2002).




                       Page 14                                   GAO-03-449 State Newborn Screening Programs
Newborn Screening            States reported they spent over $120 million on laboratory and program
                                                                                             ,
Expenditures Vary by State   administration/follow-up activities in state fiscal year 2001.23 24 Individual
                             states’ expenditures ranged from $87,000 to about $27 million. Based on
                             information provided by 46 states, we found that, on average, states spent
                             $29.44 for each infant screened in state fiscal year 2001.25 Two-thirds of
                             these states spent from $20 to $40 per infant. (See app. V for expenditures
                             per infant screened in each state.)

                             Laboratory expenditures accounted for 74 percent of states’ expenditures;
                             program administration/follow-up expenditures accounted for 26 percent.26
                             States reported that laboratory expenditures generally supported activities
                             such as processing and analyzing specimens, notifying health care
                             providers and parents of screening test results, and evaluating the quality
                             of laboratory activities. Program administration/follow-up expenditures
                             generally supported activities such as notifying appropriate parties of test
                             results, confirming that infants received additional laboratory testing,
                             confirming that infants diagnosed with disorders received treatment, and
                             providing education to parents and health care providers. In addition,
                             almost half the states reported that laboratory expenditures supported
                             education of parents and health care providers.




                             23
                               We asked states to provide us expenditure information for laboratory and program
                             administration/follow-up; we instructed states to include only those follow-up activities
                             that are conducted through confirmation of diagnosis and referral for treatment. We did
                             not ask for expenditure information for disease management and treatment services.
                             24
                               Expenditure calculations were based on responses from 50 states; South Dakota reported
                             that expenditure information was not available for state fiscal year 2001. Six states
                             reported that their expenditures included significant, nonrecurring expenses in state fiscal
                             year 2001, such as for the purchase of MS/MS equipment or computer software. These
                             expenditures ranged from $22,645 to $415,835, totaling about $1 million. In addition, one
                             state told us that the program administration/follow-up expenditures it reported included
                             approximately $50,000 to $75,000 for disease management and treatment services.
                             25
                               We were unable to calculate expenditures per infant screened for five states. South
                             Dakota reported that expenditure information was not available for state fiscal year 2001.
                             Florida, Georgia, Kentucky, and Minnesota did not provide information on the number of
                             infants screened.
                             26
                               Expenditure calculations are based on responses from 49 states. South Dakota reported
                             that expenditure information was not available for state fiscal year 2001. New York
                             provided total expenditure information but did not separately identify expenditures for the
                             laboratory and program administration/follow-up components.




                             Page 15                                    GAO-03-449 State Newborn Screening Programs
State Newborn Screening   Fees are the largest funding source for most states’ newborn screening
Programs Are Funded       programs. Forty-three states reported they charge a newborn screening fee
Primarily through Fees    to support all or part of program expenditures.27 The fees are generally
                          paid by health care providers submitting specimens; they in turn may
                          receive payments from Medicaid and other third-party payers, including
                          private insurers. Some states collect the fees through the sale of specimen
                          collection kits to hospitals and birthing centers. Other states may bill
                          hospitals, patients, physicians, Medicaid, or other third-party payers for
                          the fee. Nationwide, newborn screening fees funded 64 percent of
                                                                                                 ,
                          newborn screening program expenditures in state fiscal year 2001.28 29 (See
                          table 4.) Thirteen state programs reported that fees were their sole source
                          of funding in fiscal year 2001, and 19 additional states reported that fees
                          funded at least 60 percent of their newborn screening expenditures.
                          The average fee in the states that charged a fee was about $31, with fees
                          ranging from $10 to $60.

                          Table 4: Funding Sources for State Newborn Screening Programs, as Percentage of
                          Nationwide Program Expenditures, State Fiscal Year 2001

                                                                                                                   Percentage of program
                              Funding source                                                                                expenditures
                              Fees                                                                                                     64
                              Maternal and Child Health Services Block Grant                                                            5
                              Medicaida                                                                                                10
                              Other state funds                                                                                        19
                              Other fundsb                                                                                              2

                          Source: GAO Survey of State Newborn Screening Programs for Genetic and Metabolic Disorders, October 21, 2002.

                          Note: This table includes information for 50 states; South Dakota reported that information on state
                          fiscal year 2001 funding sources was not available. We asked states to provide us expenditure
                          information for laboratory and program administration/follow-up components and instructed them to
                          include only those follow-up activities that are conducted through confirmation of diagnosis and
                          referral for treatment. We did not ask for expenditure information for disease management and
                          treatment services.
                          a
                          Includes federal and state contributions.
                          b
                          Includes, for example, the Preventive Health and Health Services Block Grant.




                          27
                            We asked states to report whether they currently charge a fee, and if so, the amount of
                          that fee. States responded to the survey in October and November 2002.
                          28
                              States may have also used fees to support disease management and treatment activities.
                          29
                           South Dakota is not included in any of the calculations related to funding sources; it
                          reported that information on state fiscal year 2001 funding sources was not available.




                          Page 16                                                   GAO-03-449 State Newborn Screening Programs
                     Seven state newborn screening programs identified Medicaid as a direct
                     funding source in state fiscal year 2001. These screening programs bill the
                     state Medicaid agency directly for laboratory services or receive a transfer
                     of funds from the state Medicaid agency for screening services provided to
                     Medicaid-enrolled infants. The percentage of expenditures the states
                     reported as directly funded by Medicaid does not include Medicaid
                     payments to hospitals for services provided to newborns.30

                     Other funding sources that states identified for newborn screening
                     program expenditures include state funds and the Maternal and Child
                     Health Services Block Grant. About half the states reported that state
                     funds supported laboratory or program administration/follow-up
                     expenditures. In addition, about half the states reported that they rely on
                     the Maternal and Child Health Services Block Grant as a funding source
                     for laboratory or program administration/follow-up expenditures. Seven
                     states identified other funding sources, such as the Preventive Health and
                     Health Services Block Grant.


                     CDC and HRSA offer services to assist states in evaluating the quality of
Newborn Screening    their newborn screening programs. For example, CDC’s NSQAP provides
Quality Assurance    proficiency testing for almost all disorders included in state newborn
                     screening programs, enabling states to meet the CLIA regulatory
Efforts Focus on     requirement that laboratories have a process for verifying the accuracy of
Laboratory Testing   tests they perform. Through the Resource Center, HRSA supports
                     technical reviews of state newborn screening programs. These voluntary
and Performance      programwide reviews are conducted at the request of state health officials
Monitoring           and focus primarily on areas of concern identified by state officials. In
                     addition to these federally supported efforts, most state newborn
                     screening programs reported that they evaluate the quality of the
                     laboratory testing and/or program administration/follow-up components of
                     their newborn screening programs.




                     30
                      Medicaid may reimburse hospitals for newborn screening services on a fee-for-service
                     basis or as part of a maternity care package.




                     Page 17                                  GAO-03-449 State Newborn Screening Programs
CDC Provides Proficiency    CDC’s NSQAP is the only program in the country that conducts
Testing and Other Quality   proficiency testing on the dried blood spots used in newborn screening.31
Assurance Services to       While NSQAP is voluntary, as of January 2003, all laboratories that
                            perform testing for state newborn screening programs participated in the
Newborn Screening           proficiency testing program. Participation in NSQAP allows laboratories to
Laboratories                meet the CLIA regulatory requirement that they have a process for
                            verifying the accuracy of tests they perform. NSQAP offers proficiency
                            testing for over 30 disorders, including the disorders most commonly
                            included in state newborn screening programs.

                            When a laboratory misclassifies a specimen during proficiency testing,
                            NSQAP notifies the laboratory of the problem. When an abnormal
                            specimen is classified as normal, NSQAP officials work with the
                            laboratory to identify and solve the problem that led to the
                            misclassification. NSQAP provides information on the specimen that was
                            misclassified, gives supplemental specimens to the laboratory to test, and
                            may visit the laboratory, if necessary, to provide additional assistance.32

                            In addition to proficiency testing, NSQAP provides other types of quality
                            assurance assistance, including training, guidelines, and consultation to
                            laboratories that participate in the program. For example, in September
                            2001, NSQAP cosponsored a meeting of laboratory and medical scientists
                            to discuss issues related to the use of MS/MS in newborn screening.33 In
                            addition, NSQAP provides state newborn screening programs with quality
                            control specimens—test specimens designed to be run over a period of
                            time to ensure the stability of the testing methods—and works with the
                            manufacturers of the filter papers used in the collection of dried blood



                            31
                              To conduct proficiency testing, NSQAP prepares and distributes specimens quarterly to
                            participating laboratories. NSQAP does not include information on the expected results
                            with these specimens. Laboratories analyze samples from the specimens and return their
                            analytical results and clinical assessments to NSQAP for review. NSQAP compares the
                            laboratory’s results to the expected results for the specimen. All laboratories receive at
                            least two abnormal specimens for each disorder for which they test during the course of
                            the year. These proficiency testing services are provided at no charge to laboratories.
                            32
                             According to NSQAP officials, when a laboratory misclassifies a normal specimen as
                            abnormal, they inform the laboratory of the misclassification, but do not offer additional
                            assistance. This misclassification is not considered a serious problem because the
                            additional laboratory testing that should follow an abnormal screening result would
                            confirm that the newborn does not have the disorder.
                            33
                             NSQAP cosponsored this meeting with HRSA, APHL, and the Wisconsin Department of
                            Health.




                            Page 18                                    GAO-03-449 State Newborn Screening Programs
                             spots to ensure their quality.34 NSQAP also publishes quarterly and annual
                             reports on the aggregate performance of participating laboratories. These
                             reports include information on the results of the proficiency testing
                             program. The annual reports also include information on NSQAP’s quality
                             control effort and describe other activities undertaken during the year.


HRSA Funds Voluntary         HRSA’s Resource Center offers technical reviews to states at their request
Technical Reviews of State   to help them refine and improve their newborn screening activities.35 The
Newborn Screening            team that visits the state program typically includes a representative of the
                             Resource Center, a representative from CDC’s NSQAP to focus on
Programs                     laboratory quality assurance, a health care provider to focus on medical
                             and genetic issues, a follow-up coordinator from another state program to
                             focus on the follow-up component of the program, and a representative
                             from HRSA to focus on financial and administrative issues. The Resource
                             Center’s reviews concentrate primarily on areas state officials ask the
                             team to review. For example, states have asked the review team to look at
                             whether or how the set of disorders included in their programs should be
                             expanded, how to incorporate MS/MS into a program, and whether current
                             program staffing levels are appropriate. The review team also assesses the
                             degree to which the state program follows the 1992 CORN guidelines in
                             areas such as public, professional, and patient education, laboratory
                             proficiency testing, and consumer representation on advisory committees.

                             After reviewing a state newborn screening program, the team provides the
                             state with a final report that includes its findings and recommendations to
                             improve the program. Recent findings have included newborn screening
                             advisory committees that were not sufficiently multidisciplinary and
                             programs that did not have a systemwide quality assurance program.
                             Review teams have also identified the need for additional program
                             administration/follow-up staff and for provider education programs to
                             include information on collecting and submitting specimens and reporting
                             screening results. The state newborn screening program is not obligated to
                             accept or implement the team’s recommendations, and HRSA and the
                             Resource Center have no authority to require states to make changes to
                             their program. However, according to the Resource Center, most
                             participating states have made some modifications to their program in


                             34
                              The manufacturers of the filter paper voluntarily send statistically valid sample sets of
                             production lots for evaluation against specific NSQAP criteria.
                             35
                              Prior to 1999, HRSA contracted with an expert panel to conduct these reviews.




                             Page 19                                    GAO-03-449 State Newborn Screening Programs
                           response to recommendations. State officials told us, for example, that
                           they have expanded or diversified the membership of their advisory
                           committees, revised practitioner manuals, developed a programwide
                           quality assurance system, and hired additional program
                           administration/follow-up staff. In addition, state newborn screening
                           program staff told us that the recommendations of the review teams
                           helped inform program staff, state legislators, and health department staff
                           as they assessed program needs.

                           HRSA has funded 26 technical reviews in 22 states since the program
                           began in 1987; 36 9 of these reviews have occurred since January 2000.
                           Every state that has requested a review has been able to receive one.


Most State Newborn         Most states reported evaluating the quality of the laboratory testing and/or
Screening Programs         program administration/follow-up components of their newborn screening
Reported Evaluating        programs. For example, laboratories monitor performance by defining
                           criteria for achieving quality results and designing a monitoring program
Laboratory or Program      to evaluate whether they are meeting these criteria. One state told us that
Administration/Follow-up   it has criteria related to calibration of equipment, personnel training and
Activities                 education, and recordkeeping and documentation. Other measures that
                           programs may monitor include percentage of births screened, number of
                           unusable specimens, demographic information missing from specimen
                           collection cards, and number of children lost to follow-up. Several state
                           officials told us that they use some of these measures to monitor quality of
                           specimens received from hospitals and to identify hospitals that may need
                           education regarding the newborn screening process. In addition, states
                           voluntarily report many of these measures to the Resource Center for
                           inclusion in its annual National Newborn Screening Report, enabling
                           states to compare their program over time with other states’ programs.
                           Moreover, all states report annually to HRSA on the percentage of
                           newborns in the state who are screened for selected disorders, including
                           PKU and congenital hypothyroidism, as part of the Maternal and Child
                           Health Services Block Grant reporting requirements.37



                           36
                            Four states requested a second review several years after receiving the first review. In
                           addition to these 22 states, Guam and Saipan have also participated in the program.
                           37
                            In addition, some states have developed other performance measures related to newborn
                           screening, which they submit to HRSA as part of their Maternal and Child Health Services
                           Block Grant annual report. For example, one state reports on the percentage of newborns
                           with abnormal screening results who receive follow-up.




                           Page 20                                    GAO-03-449 State Newborn Screening Programs
                        About half the states reported to us that they have a mechanism for
                        learning of abnormal cases that were misclassified as normal, information
                        that can alert a state to problems with its program. According to experts in
                        the field of newborn screening, these cases occur infrequently but can
                        have serious results when children develop a life-threatening condition
                        that might have been prevented if treated early. Most of these states learn
                        about these cases through their communications with the specialists in
                        their state who manage and treat the disorders identified by newborn
                        screening. If a child is referred to one of these specialists from a source
                        other than the newborn screening program, the specialist will usually
                        contact program officials, who then determine whether the screening
                        program misclassified the child’s screening result as normal. Four states
                        reported that they can learn of abnormal cases misclassified as normal
                        through reports made to state birth defects or disease registries. For
                        example, one state reported that staff at the state birth defects registry
                        notify the newborn screening program of children reported to them, and
                        the newborn screening program then checks whether or not these children
                        were identified through the screening process.


                        State newborn screening statutes usually do not require that parental
States Generally Do     consent be obtained before screening occurs. However, most state
Not Require Consent     newborn screening statutes or regulations allow exemptions from
                        screening for religious reasons, and several states allow exemptions for
for Newborn             any reason. Provisions regarding the confidentiality of screening results
Screening and Most      are included in state newborn screening statutes and regulations and state
                        genetic privacy laws, but are often subject to exceptions, which vary
Limit Disclosure of     across states. The most common exceptions allow disclosure of
Screening Information   information for research purposes, for use in law enforcement, and for
                        establishing paternity. While few newborn screening statutes provide
                        penalties for violation of confidentiality provisions, many states’ genetic
                        privacy statutes provide criminal sanctions and penalties for violating their
                        provisions, including those related to confidentiality.




                        Page 21                            GAO-03-449 State Newborn Screening Programs
Consent Is Generally Not     All states require newborn screening, and state newborn screening
Required for Newborn         statutes usually do not require consent for screening. Only Wyoming’s
Screening, but Many States   newborn screening statute expressly requires that persons responsible for
                             collecting the blood specimen obtain consent prior to screening. In
Allow Religious              addition, of the three states with only regulations requiring newborn
Exemptions                   screening,38 Maryland’s regulations on newborn screening require consent
                             for screening.39

                             While all states require newborn screening, most newborn screening
                             statutes or regulations provide exemptions in certain situations. In 33
                             states, newborn screening statutes or regulations provide an exemption
                             from screening if it is contrary to parents’ religious beliefs or practices.
                             Thirteen additional states provide an exemption for any reason. (See table
                             5.)

                             Table 5: Basis on Which Newborn Screening Exemption Is Granted, by State

                                                                   Basis for exemption
                                                          Religious objection    Any objection        No exemption
                              Alabama                              X
                              Alaska                                                   X
                              Arizona                                                                       X
                              Arkansas                             X
                              California                           X
                              Colorado                                                   X
                              Connecticut                          X
                              Delaware                             X
                              District of Columbia                                       X
                              Florida                                                    X
                              Georgia                              X
                              Hawaii                               X
                              Idaho                                X
                              Illinois                             X
                              Indiana                              X
                              Iowa                                                       X
                              Kansas                               X
                              Kentucky                             X



                             38
                              These states do not have newborn screening statutes.
                             39
                              Both Wyoming’s newborn screening statute and Maryland’s newborn screening regulation
                             expressly require informed consent; however, neither state’s newborn screening statute or
                             regulation defines this term.




                             Page 22                                   GAO-03-449 State Newborn Screening Programs
                                                   Basis for exemption
                                          Religious objection    Any objection           No exemption
    Louisiana                                                          X
    Maine                                          X
    Maryland                                                           X
    Massachusetts                                  X
    Michigan                                       X
    Minnesota                                      X
    Mississippi                                    X
    Missouri                                       X
    Montana                                                                                    X
    Nebraska                                                                                   X
    Nevada                                                                     X
    New Hampshire                                                              X
    New Jersey                                          X
    New Mexico                                                                 X
    New York                                            X
    North Carolina                                                             X
    North Dakota                                        X
    Ohio                                                X
    Oklahoma                                            X
    Oregon                                              X
    Pennsylvania                                        X
    Rhode island                                        X
    South Carolina                                      X
    South Dakota                                                                               X
    Tennessee                                           X
    Texas                                               X
    Utah                                                X
    Vermont                                                                    X
    Virginia                                            X
    Washington                                          X
    West Virginia                                                                              X
              a
    Wisconsin                                           X
    Wyoming                                                                    X

Sources: State newborn screening statutes and newborn screening regulations.

Note: GAO analysis of state newborn screening statutes and newborn screening regulations.
a
 Wisconsin’s screening statute also authorizes a urine test program to test infants for causes of
congenital disorders, but provides that no person may be required to participate in that program.




Page 23                                                     GAO-03-449 State Newborn Screening Programs
Most States Have Privacy   In over half the states, newborn screening statutes and regulations have
Laws or Regulations That   provisions that indicate that information collected from newborn
                                                       ,
Protect Newborn            screening is confidential.40 41 However, they permit information to be
                           released without authorization from the child’s legal representative in
Screening Information to   some circumstances. The most common provision for release of screening
Some Extent                information is for use in statistical analysis or research, generally with a
                           requirement that the identity of the subject is not revealed and/or that the
                           researchers comply with applicable state and federal laws for the
                           protection of humans in research activities. Some state screening statutes
                           have additional provisions that allow screening information to be released.
                           Wisconsin’s screening statute, for example, allows the information to be
                           released for use by health care facilities staff and accreditation
                           organizations for audit, evaluation, and accreditation activities; and for
                           billing, collection, or payment of claims. A few states have more restrictive
                           provisions. South Carolina’s screening statute, for example, limits
                           disclosure of the information obtained from screening to the physician, the
                           parents of the child, and the child when he or she reaches age 18.

                           State statutes that govern the collection, use, or disclosure of genetic
                           information may also apply to genetic information obtained from newborn
                           screening. Twenty-five states have laws that prohibit disclosure of genetic
                           information without the consent of the individual; in 23 of these states, the
                           statutes have exceptions that permit disclosure without consent.42 (See
                           table 6.) For example, 14 states’ genetic privacy laws permit disclosure of
                           genetic information without consent for the purpose of research, provided
                           that individuals’ identities are not revealed and/or the research complies
                           with applicable state and federal laws for the protection of humans in
                           research activities.




                           40
                             We found no limitation on the ability of laboratories or state agencies to inform health
                           care providers attending newborns with abnormal screening results. On the contrary, many
                           statutes and regulations require laboratories and state agencies to inform providers of
                           abnormal screening results.
                           41
                            As defined in federal regulations implementing the Health Insurance Portability and
                           Accountability Act of 1996, the term health information would also include newborn
                           screening information.
                           42
                             This analysis is based on National Conference of State Legislatures’ information
                           indicating that 29 states have laws that govern the privacy of genetic information. In 4 of
                           these states, the statutes relate only to collection and/or use of genetic information.




                           Page 24                                    GAO-03-449 State Newborn Screening Programs
Table 6: Exceptions to Confidentiality Requirements in States’ Genetic Privacy Laws

                                                                             Exception
                                                                                                                        In connection with
                                                                          Peer review or                                 law enforcement
State with genetic                           Disclosure to health        quality assurance           Establishing            or legal
privacy law                 Researcha           care provider                  activity               paternity            proceedings
Arizona                        X                      X                           X
Arkansas                       X
Colorado                       X                                                                            X
Delaware                                                                                                    X                      X
Florida                                                                                                     X                      X
Georgia                          X                                                                                                 X
Illinois                                                   X                       X                        X                      X
Louisiana                        X                                                                          X                      X
Maryland                         X                         X
Massachusetts                    X                                                                                                 X
Missouri                         X                                                                                                 X
Nevada                                                     X                                                X                      X
New Hampshire                                              X                                                X                      X
New Jersey                                                                                                  X                      X
New Mexico                       X                         X                                                X                      X
New York                                                                                                                           X
Oregon                           X                                                                          X                      X
Rhode Island                     X
South Carolina                                                                                              X                      X
Texas                            X                                                                          X                      X
Utah                                                                                                                               X
Vermont                          X                                                                          X                      X
Washington                       X                         X                       X

                                         Sources: State statutes.

                                         Notes: GAO analysis of state statutes. States’ genetic privacy laws may also apply to genetic
                                         information obtained from newborn screening.
                                         a
                                          Information may be disclosed for research, subject to conditions concerning the release of
                                         individuals’ identities and/or compliance with state and federal laws for the protection of humans in
                                         research activities.


                                         Most state newborn screening statutes and genetic privacy laws do not
                                         include penalties for lack of compliance. According to the National
                                         Conference of State Legislatures, 17 states have laws that provide specific
                                         penalties for violating genetic privacy laws. In 6 of these states, violations
                                         of genetic privacy statutes are punishable by fine and/or imprisonment. In
                                         addition, the statutes authorize civil lawsuits to obtain damages and, in
                                         most instances, court costs and attorneys’ fees. In 10 of these states, the



                                         Page 25                                         GAO-03-449 State Newborn Screening Programs
                  statutes provide for civil liability only. In 1 state, violation is punishable
                  only as a crime.


                  We provided a draft of this report to HHS for comment. Overall, HHS said
Agency Comments   that the report presents a thorough summary of state newborn screening
                  programs’ current practices. (HHS’s comments are reprinted in app. VI.)
                  HHS said that the report needed to reflect that newborn screening is a
                  system that, in addition to testing, includes follow-up, diagnosis, disease
                  management and treatment, evaluation, and education. However, the draft
                  report did identify the various components of the newborn screening
                  system. HHS said that there is a need to more comprehensively address
                  components of the system beyond testing. For example, HHS commented
                  that there is a need for a coordinated effort in states to train and educate
                  health professionals and state newborn screening program directors in the
                  use of newer technologies. In addition, it stated that there is a need to
                  provide information to families and parents about the screening their state
                  provides and the screening options available to them outside of their
                  state’s program. HHS said that it anticipated that the report would, among
                  other things, include recommendations to improve state newborn
                  screening programs. As we noted in the draft report, HRSA has initiated a
                  process to develop recommendations for state newborn screening
                  programs. The scope of our review focused on providing the Congress
                  with descriptive information about state programs.

                  HHS supported the development of benchmarks to help states evaluate the
                  quality of the various components of the newborn screening system. It
                  added that one of the most effective ways the federal government can
                  support state newborn screening programs is by strengthening the
                  scientific basis for newborn screening through funding of systematic
                  evaluation of outcomes and the quality of all components of the newborn
                  screening system.

                  In its comments, HHS provided information on its efforts related to
                  newborn screening. For example, HHS described demonstration projects
                  it funded to examine the use of new technology and initiatives to improve
                  family and provider education. In addition, HHS indicated that all of its
                  programs address the recommendations of the AAP newborn screening
                  task force and encourage the integration of various newborn screening
                  and genetics services into systems of care. HHS provided technical
                  comments. We incorporated the technical comments and other
                  information HHS provided on its programs where appropriate.



                  Page 26                              GAO-03-449 State Newborn Screening Programs
As arranged with your offices, unless you publicly announce its contents
earlier, we will not distribute this report until 30 days after its issue date.
We will then send copies of this report to the Secretary of Health and
Human Services, the Administrators of the Health Resources and Services
Administration and the Centers for Medicare & Medicaid Services, the
Directors of the Centers for Disease Control and Prevention and the
National Institutes of Health, appropriate congressional committees, and
others who are interested. We will also make copies available to others
upon request. In addition, the report will be available at no charge on the
GAO Web site at http://www.gao.gov.

If you or your staff have any questions, please contact me at (202) 512-
7119. An additional contact and the names of other staff members who
made contributions to this report are listed in appendix VII.




Marjorie Kanof
Director, Health Care—Clinical
 and Military Health Care Issues




Page 27                              GAO-03-449 State Newborn Screening Programs
             Appendix I: Scope and Methodology
Appendix I: Scope and Methodology


             To do our work, we surveyed the health officers in all the states during
             October and November 2002 about their newborn screening programs.1 We
             asked each state health officer to work with laboratory and program
             administration/follow-up staff in responding to the questions. The survey
             asked for information on the process for selecting disorders to include in
             newborn screening programs; laboratory and follow-up activities; parent
             and provider education efforts; expenditures and funding sources; efforts
             to evaluate the quality of laboratory testing and program
             administration/follow-up; and states’ retention and sharing of screening
             results. The survey focused only on screening for metabolic and genetic
             disorders. We did not ask for information on disease management and
             treatment services provided by state newborn screening programs, and the
             survey did not collect information on newborn screening for hearing and
             infectious diseases.

             We pretested the survey in person with laboratory and program
             administration/follow-up staff from the Virginia and Delaware newborn
             screening programs. In addition, the survey instrument was reviewed by
             staff at the Department of Health and Human Services’ (HHS) Centers for
             Disease Control and Prevention (CDC), National Center for Environmental
             Health, Newborn Screening Branch, and the National Newborn Screening
             and Genetics Resource Center, a project funded by HHS’s Health
             Resources and Services Administration (HRSA). We refined the
             questionnaire in response to their comments. We received responses from
             all the states. After reviewing the completed questionnaires and checking
             the data for consistency, we contacted certain states to clarify responses
             and edited survey responses as appropriate. In addition, we followed up
             with four states to obtain more detailed information on their processes for
             selecting disorders, evaluations of parent and provider education,
             evaluations of the quality of laboratory testing and program
             administration/follow-up, and mechanisms for identifying abnormal cases
             misclassified as normal.

             To identify which genetic and metabolic disorders are included in states’
             newborn screening programs, we reviewed the Resource Center’s U.S.
             National Screening Status Reports. These reports provide information on
             the disorders for which states require screening and the disorders for
             which screening is provided to selected populations, through pilot
             programs, or by request.


             1
              “States” refers to the 50 states and the District of Columbia.




             Page 28                                     GAO-03-449 State Newborn Screening Programs
Appendix I: Scope and Methodology




To report on efforts by HHS and states to monitor and evaluate the quality
of state newborn screening programs, we reviewed annual summary
reports, proficiency testing results, and other documents from the
Newborn Screening Quality Assurance Program (NSQAP), which CDC
operates with the Association of Public Health Laboratories, and
interviewed CDC staff on states’ participation. We also reviewed report
findings from the seven technical reviews of state newborn screening
programs that HRSA, CDC, and the Resource Center conducted from 1999
to 2001. We interviewed Resource Center staff about the content and
findings of these reviews and interviewed officials in five states about
actions taken in response to the review staff’s findings and
recommendations.

To determine how state laws address consent and privacy issues related to
newborn screening, we analyzed state statutes that provide for newborn
screening for genetic and metabolic disorders and state statutes that relate
to privacy of genetic information generally. We also reviewed state
newborn screening regulations as appropriate. The information on states
that require consent for newborn screening is based on our analysis of
state newborn screening and genetic privacy statutes and the newborn
screening regulations in states that do not have newborn screening
statutes. The information on exemptions from screening is based on our
review of state newborn screening statutes and newborn screening
regulations. Information on privacy is based on our analysis of
confidentiality provisions in state newborn screening statutes and, for
those states that do not have confidentiality provisions in their newborn
screening statutes, on confidentiality provisions in newborn screening
regulations. We also analyzed confidentiality provisions in state genetic
privacy statutes.

To identify the newborn screening statutes and regulations that were
within the scope of our review, we relied on research provided by the
National Conference of State Legislatures (NCSL) in fall 2002 and analyzed
only those newborn screening statutes and regulations identified through
that research. With regard to genetic privacy statutes, we analyzed only
those statutes identified by NCSL in an April 2002 report identifying state
genetic privacy laws.2 We contacted state officials as appropriate to obtain
assistance in locating and interpreting statutory authorities. We also relied



2
National Conference of State Legislatures, Genetics Policy Report, Privacy (Washington,
D.C.: April 2002).




Page 29                                  GAO-03-449 State Newborn Screening Programs
Appendix I: Scope and Methodology




on NCSL’s determination of the number of states that provide penalties for
the violation of those statutes.

Newborn screening programs are governed by a variety of legal
authorities. We did not research or analyze any case law interpreting state
newborn screening statutes and regulations or genetic privacy statutes,
and we did not research or analyze any written interpretive guidance
issued by states.

We also reviewed relevant literature and obtained information from
individual experts, newborn screening laboratory and maternal and child
health staff in several states, and representatives of organizations
interested in newborn screening, including the American Academy of
Pediatrics, American College of Medical Genetics, American College of
Obstetricians and Gynecologists, American Medical Association,
Association of Maternal and Child Health Programs, Association of Public
Health Laboratories, Association of State and Territorial Health Officials,
and the March of Dimes.

We conducted our work from June 2002 through March 2003 in
accordance with generally accepted government auditing standards.




Page 30                             GAO-03-449 State Newborn Screening Programs
                                    Appendix II: Number of Disorders Included in
Appendix II: Number of Disorders Included
                                    State Newborn Screening Programs,
                                    December 2002


in State Newborn Screening Programs,
December 2002

                                                                           Number of disorders for which screening is
                                                                          conducted using tandem mass spectrometry
                                  Number of disorders                                        (MS/MS)a,b
                           Screening      Screening conducted for               Screening        Screening conducted for
                       required for all   selected populations, as          required for all     selected populations, as
                           newborns pilot program, or by request                newborns pilot program, or by request
Alabama                              5                           0                        0                             0
Alaska                               6                           1                        0                             0
Arizona                              8                           0                        0                             0
Arkansas                             4                           0                        0                             0
California                           4                          28                        0                            28
Colorado                             7                           0                        0                             0
Connecticut                          8                           1                        0                             0
Delaware                             5                           0                        0                             0
District of Columbia                 7                           0                        0                             0
Florida                              5                           0                        0                             0
Georgia                              8                           0                        0                             0
Hawaii                               7                          28                        0                            28
Idaho                                5                          27                        0                            26
Illinois                            27                           0                       19                             0
Indiana                              9                           0                        1                             0
Iowa                                 6                          30                        1                            27
Kansas                               4                           0                        0                             0
Kentucky                             4                           0                        0                             0
Louisiana                            5                           0                        0                             0
Maine                                9                          18                        1                            18
Maryland                             9                           0                        0                             0
Massachusetts                       10                          20                        1                            19
Michigan                             7                           0                        0                             0
Minnesota                            5                          21                        0                            19
Mississippi                          5                           0                        0                             0
Missouri                             5                           0                        0                             0
Montana                              3                          18                        0                            14
Nebraska                             5                          28                        0                            26
Nevada                               6                           0                        0                             0
New Hampshire                        6                           1                        0                             0
New Jersey                          14                           0                        6                             0
New Mexico                           6                           0                        0                             0
New York                            10                           0                        1                             0
North Carolina                      32                           0                       25                             0
North Dakota                         4                           2                        0                             1
Ohio                                12                          15                        6                            15
Oklahoma                             4                           0                        0                             0
Oregon                              33                           0                       26                             0




                                    Page 31                                  GAO-03-449 State Newborn Screening Programs
                                                                Appendix II: Number of Disorders Included in
                                                                State Newborn Screening Programs,
                                                                December 2002




                                                                                                                         Number of disorders for which screening is
                                                                                                                        conducted using tandem mass spectrometry
                                                     Number of disorders                                                                   (MS/MS)a,b
                                              Screening      Screening conducted for                                          Screening        Screening conducted for
                                          required for all   selected populations, as                                     required for all     selected populations, as
                                              newborns pilot program, or by request                                           newborns pilot program, or by request
 Pennsylvania                                           6                           0                                                   0                             0
 Rhode Island                                           9                           0                                                   1                             0
 South Carolina                                         6                           0                                                   1                             0
 South Dakota                                           3                          29                                                   0                            26
 Tennessee                                              5                           0                                                   0                             0
 Texas                                                  5                           0                                                   0                             0
 Utah                                                   4                           0                                                   0                             0
 Vermont                                                7                           0                                                   0                             0
 Virginia                                               8                           0                                                   0                             0
 Washington                                             4                           0                                                   0                             0
 West Virginia                                          3                           1                                                   0                             0
 Wisconsin                                             21                           5                                                  14                             3
 Wyoming                                                6                           0                                                   0                             0

Source: National Newborn Screening and Genetics Resource Center websites: http://genes-r-us.uthsca.edu/resources/newborn/screenstatus.htm, downloaded on January 9, 2003, and http://genes-r-
us.uthsca.edu/resources/newborn/msmstests.htm, downloaded on January 8, 2003.



                                                                a
                                                                 States may use their own laboratory to conduct MS/MS screening or contract with other laboratories.
                                                                b
                                                                Numbers exclude MS/MS screening for phenylketonuria, maple syrup urine disease, and
                                                                homocystinuria.




                                                                Page 32                                                     GAO-03-449 State Newborn Screening Programs
                                                               Appendix III: Information on Disorders Most
Appendix III: Information on Disorders Most                    Commonly Included in State Newborn
                                                               Screening Programs


Commonly Included in State Newborn
Screening Programs

 Disorder                                      National incidencea Description                                 Potential outcomes          Treatment
 Phenylketonuria                                       1 in 13,947b Deficiency of an enzyme                    Mental retardation,         Low-phenylalanine diet
                                                                     needed to break down the                  seizures
                                                                     amino acid phenylalanine
                                                                   c
 Congenital hypothyroidism                               1 in 3,044 Inability to produce                       Mental retardation,         Thyroid hormone
                                                                     adequate amount of                        stunted growth
                                                                     thyroid hormone
 Galactosemia                                          1 in 53,261d Deficiency of an enzyme                    Brain damage, liver         Galactose-free diet
                                                                     needed to break down the                  damage, cataracts,
                                                                     milk sugar galactose                      death
 Sickle cell diseases                                    1 in 3,721/ Inherited blood disorder                  Organ damage,               Penicillin, vaccinations
                                                                   e
                                                         1 in 7,386 causing hemoglobin                         delayed growth, stroke
                                                                     abnormalities
 Congenital adrenal                                     1 in 18,987 Deficiency of an adrenal                   Death due to salt loss,     Hormone replacement
 hyperplasia                                                         enzyme needed to                          reproductive and            and salt replacement
                                                                     produce cortisol and                      growth difficulties
                                                                     aldosterone
 Biotinidase deficiency                                 1 in 61,319 Deficiency of the enzyme                   Mental retardation,         Biotin supplements
                                                                     biotinidase, needed to                    developmental delay,
                                                                     recycle the vitamin biotin                seizures, hearing loss
 Maple syrup urine disease                            1 in 230,028 Deficiency of the enzyme                    Mental retardation,         Dietary management
                                                                     needed to metabolize                      seizures, coma, death       and supplements
                                                                     leucine, isoleucine, and
                                                                     valine
 Homocystinuria                                       1 in 343,650 Deficiency of the enzyme                    Mental retardation, eye     Dietary management
                                                                     needed to metabolize the                  problems, skeletal          and vitamin
                                                                     amino acid homocysteine                   abnormalities, stroke       supplements

Sources: National Newborn Screening and Genetics Resource Center and newborn screening literature.
                                                               a
                                                                Preliminary data on disorder incidence presented by the National Newborn Screening and Genetics
                                                               Resource Center at the 2002 Newborn Screening and Genetic Testing Symposium. Incidence rates
                                                               are based on data from 1990 to 1999.
                                                               b
                                                               Incidence rate is for clinically significant hyperphenylalaninemia, which includes classical
                                                               phenylketonuria and clinically significant phenylketonuria variant.
                                                               c
                                                               Incidence rate is for primary congenital hypothyroidism and does not include other forms of
                                                               hypothyroidism.
                                                               d
                                                                   Incidence rate is for classical galactosemia and does not include other forms of galactosemia.
                                                               e
                                                                Sickle cell anemia has an incidence of 1 in 3,721, while Hemoglobin sickle C disease has an
                                                               incidence of 1 in 7,386.




                                                               Page 33                                           GAO-03-449 State Newborn Screening Programs
                                                               Appendix IV: Selected Disorders States
Appendix IV: Selected Disorders States                         Screen for Using MS/MS and Number of States
                                                               That Screen for Each, December 2002


Screen for Using MS/MS and Number of
States That Screen for Each, December 2002

                                                                                                                        Number of statesa
                                                                                                                                     Screening conducted for
                                                                                                    Screening required for all  selected populations, as pilot
 Disorder                                                                                                         newborns             program, or by request
 Fatty acid oxidation defects
     Carnitine palmitoyl transferase deficiency type I (CPT-1)                                                                          2                              4
     Carnitine palmitoyl transferase deficiency type II (CPT-2)                                                                         4                             11
     Carnitine/acylcarnitine translocase deficiency (CAT)                                                                               3                              8
     Long-chain hydroxy acyl-CoA dehydrogenase deficiency                                                                               4                             11
     (LCHAD)
     Multiple acyl-CoA dehydrogenase deficiency (GA-II)                                                                                 4                             11
     Short-chain acyl-CoA dehydrogenase deficiency (SCAD)                                                                               5                             11
     Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)                                                                             13                              8
     Trifunctional protein deficiency                                                                                                   3                              8
     Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)                                                                          4                             11
     Long-chain acyl-CoA dehydrogenase deficiency (LCAD)                                                                                4                              6
     2,4 dienoyl-CoA reductase deficiency                                                                                               2                              2
 Organic acidemias
     Glutaric aciduria type I (GA-1)                                                                                                    4                             11
     3-hydroxy-3-methylglutaryl CoA lyase deficiency (HMG)                                                                              4                             11
     Isobutyryl-CoA dehydrogenase deficiency                                                                                            1                              6
     Isovaleric acidemia (IVA)                                                                                                          5                             10
     Malonic aciduria                                                                                                                   0                              5
     3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)                                                                                4                             11
     Methylmalonic acidemia (MMA)                                                                                                       5                             10
     Mitochondrial acetoacetyl-CoA thiolase deficiency (3-                                                                              3                             10
     ketothiolase)
     Propionic acidemia (PA)                                                                                                            5                             10
     2-methylbutyrl-CoA dehydrogenase deficiency                                                                                        2                              6
     Multiple CoA carboxylase deficiency                                                                                                1                              4
 Other amino acidemias
     Argininemia                                                                                                                        2                             10
     Argininosuccinate lyase deficiency (ASA)                                                                                           5                             10
     Citrullinemia                                                                                                                      5                             10
     Hyperammonemia, hyperornithinemia, homocitrullinuria (HHH)                                                                         2                              8
     Nonketotic hyperglycinemia                                                                                                         1                              6
     5-oxoprolinuria                                                                                                                    1                              4
     Tyrosinemia type I                                                                                                                 3                             10
     Tyrosinemia type II                                                                                                                2                              7

Source: National Newborn Screening and Genetics Resource Center website, http://genes-r-us.uthsca.edu/resources/newborn/msmstests.htm, downloaded January 14, 2003.
                                                               a
                                                                “States” refers to the 50 states and the District of Columbia.




                                                               Page 34                                                    GAO-03-449 State Newborn Screening Programs
                       Appendix V: State Newborn Screening
Appendix V: State Newborn Screening
                       Program Fees and Expenditures Per Infant
                       Screened


Program Fees and Expenditures Per Infant
Screened


                                          Newborn screening feea            Expenditures per infant screenedb
Alabama                                                  $34.00                                        $32.11c
Alaska                                                     24.00                                         28.78
Arizona                                             20.00/20.00d                                        25.99e
Arkansas                                                   14.83                                         17.95
California                                                 60.00                                         50.85
Colorado                                                   43.47                                         30.63
Connecticut                                                28.00                                         39.20
Delaware                                                   40.69                                         61.28
District of Columbia                                     No fee                                          25.96
                                                                                                              f
Florida                                                    20.00
                                                                                                              f
Georgia                                                  No fee
Hawaii                                                     27.00                                        26.65
Idaho                                                      18.00                                        16.11
Illinois                                                   32.00                                        31.00
Indiana                                                    39.50                                        28.16c
Iowa                                                       46.00                                        32.73
Kansas                                                   No fee                                         17.37
                                                                                                              f
Kentucky                                                   14.50
Louisiana                                                  18.00                                        25.62
Maine                                                      33.00                                        34.37
                                                                                                             c
Maryland                                                   30.00                                        30.90
Massachusetts                                              49.55                                        50.12
                                                                                                             c
Michigan                                                   42.61                                        25.69
                                                                                                              f
Minnesota                                                  21.00
Mississippi                                                25.00                                        25.00
Missouri                                                   25.00                                        26.02
Montana                                                    36.92                                        48.35
                                                               g
Nebraska                                            50.00/54.60                                         44.01
Nevada                                                     30.00                                        22.96
New Hampshire                                              18.00                                        22.24
                                                                                                              c
New Jersey                                                 34.00                                        38.27
New Mexico                                                 32.00                                        31.59
New York                                                 No fee                                         39.92
North Carolina                                             10.00                                        14.75
North Dakota                                               18.00                                        20.81
Ohio                                                       33.75                                        21.77c
Oklahoma                                                   10.50                                        23.43
Oregon                                                     27.00                                        25.05
Pennsylvania                                             No fee                                         19.91
Rhode Island                                               59.00                                        38.52
South Carolina                                             21.00                                        38.28




                       Page 35                                    GAO-03-449 State Newborn Screening Programs
                                                               Appendix V: State Newborn Screening
                                                               Program Fees and Expenditures Per Infant
                                                               Screened




                                                                                           Newborn screening feea              Expenditures per infant screenedb
                                                                                                                                                                     h
 South Dakota                                                                                             No fee
 Tennessee                                                                                                 17.50                                               19.34
 Texas                                                                                                     19.50                                               19.74
 Utah                                                                                                      31.00                                               19.62
 Vermont                                                                                                   27.00                                               27.60
 Virginia                                                                                                  27.00                                               30.89
 Washington                                                                                                40.40                                               39.31
 West Virginia                                                                                            No fee                                               15.98
 Wisconsin                                                                                                 59.50                                               33.35
 Wyoming                                                                                                  No fee                                               16.23

Source: GAO Survey of State Newborn Screening Programs for Genetic and Metabolic Disorders, October 21, 2002.
                                                               a
                                                               We asked states to report their current fee. States responded to the survey in October and
                                                               November 2002.
                                                               b
                                                                   State fiscal year 2001.
                                                               c
                                                                State’s expenditures per infant screened may not reflect a typical year because the state reported
                                                               that its expenditures for state fiscal year 2001 included a significant, nonrecurring expenditure.
                                                               d
                                                                   State charges two fees, one at initial screening and another at the second screening.
                                                               e
                                                                   Expenditures include disease management and treatment services.
                                                               f
                                                               Expenditure per infant screened not calculated because state did not report number of infants
                                                               screened.
                                                               g
                                                                   Fee varies depending on laboratory conducting the screening.
                                                               h
                                                                   Expenditure information not available for state fiscal year 2001.




                                                               Page 36                                            GAO-03-449 State Newborn Screening Programs
             Appendix VI: Comments from the Department of Health and Human Services
Appendix VI: Comments from the
Department of Health and Human Services




             Page 37                                GAO-03-449 State Newborn Screening Programs
Appendix VI: Comments from the Department of Health and Human Services




Page 38                                GAO-03-449 State Newborn Screening Programs
Appendix VI: Comments from the Department of Health and Human Services




Page 39                                GAO-03-449 State Newborn Screening Programs
Appendix VI: Comments from the Department of Health and Human Services




Page 40                                GAO-03-449 State Newborn Screening Programs
Appendix VI: Comments from the Department of Health and Human Services




Page 41                                GAO-03-449 State Newborn Screening Programs
                  Appendix VII: GAO Contact and Staff
Appendix VII: GAO Contact and Staff
                  Acknowledgments



Acknowledgments

                  Helene F. Toiv, (202) 512-7162
GAO Contact
                  In addition to the person named above, key contributors to this report
Acknowledgments   were Janina Austin, Emily Gamble Gardiner, Ann Tynan, Ariel Hill, Kevin
                  Milne, Cindy Moon, and Susan Lawes.




(290202)
                  Page 42                               GAO-03-449 State Newborn Screening Programs
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