Almost all state  programs provide information for parents and conduct provider education,  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  program. The number of disorders included in state programs ranges from 4 to 36. The criteria that state newborn screening programs reported they consider  in selecting disorders to include in their programs are generally consistent  across states. 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. 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. Nationwide, newborn screening fees funded 64 percent of  newborn screening program expenditures in state fiscal year 2001.28, 29 (See  table 4.) Newborn Screening Quality Assurance Efforts Focus on Laboratory Testing and Performance Monitoring

CDC and HRSA offer services to assist states in evaluating the quality of  their newborn screening programs. However, most state  newborn screening statutes or regulations allow exemptions from  screening for religious reasons, and several states allow exemptions for  any reason. While all states require newborn screening, most newborn screening  statutes or regulations provide exemptions in certain situations. Overall, HHS said  that the report presents a thorough summary of state newborn screening  programs’ current practices. 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. 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). 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. 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  (MS/MS)
Number of disorders for which screening is  conducted using tandem mass spectrometry  (MS/MS)

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

	National incidence Description

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

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

Expenditure per infant screened not calculated because state did not report number of infants  screened.
Why GAO Did This Study

Each year state newborn screening programs test 4 million newborns for disorders that require early detection and treatment to prevent serious illness or death. GAO was asked to provide the Congress with information on the variations among state newborn screening programs, including information on criteria considered in selecting disorders to include in state programs, education for parents and providers about newborn screening programs, and programs' expenditures and funding sources. To collect this information, GAO surveyed newborn screening programs for genetic and metabolic disorders in all 50 states and the District of Columbia. GAO was also asked to provide information on efforts by the Department of Health and Human Services (HHS) and states to evaluate the quality of newborn screening programs, state laws and regulations that address parental consent for newborn screening, and state laws and regulations that address confidentiality issues.

What GAO Found

While the number of genetic and metabolic disorders included in state newborn screening programs ranges from 4 to 36, most states screen for 8 or fewer disorders. In deciding which disorders to include, states generally consider similar criteria, such as whether the disorder is treatable. States also consider the cost of screening for additional disorders. HHS's Health Resources and Services Administration 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. Most state newborn screening programs have similar practices for administering and funding their programs. Almost all states provide education on their newborn screening program for parents and providers, but fewer than one-fourth inform parents of their option to obtain tests for additional disorders not included in the state's program. State programs are primarily funded through fees collected from health care providers, who may receive payments from Medicaid and other third-party payers. Nationwide, fees funded 64 percent of states' 2001 fiscal year program expenditures of over $120 million. All newborn screening laboratories participate in a quality assurance program offered by HHS's Centers for Disease Control and Prevention, which assists programs in evaluating the quality of their laboratories. All states require newborn screening, and state statutes that govern screening usually do not require parental consent. However, 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 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.