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    Testimony

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    Statement by
    Peter C. Van Dyck, M.D.
    Associate Administrator for Maternal and Child Health, Health Resources and Services Administration
    on
    Reducing Medical Errors and Improving Patient Safety
    before the
    Senate Committee on Health, Education, Labor, and Pensions Subcommittee on Children and Families

    June 14, 2002

    Good Morning. Mr. Chairman, Senator Collins, and members of the Subcommittee. I am Dr. Peter C. van Dyck, Associate Administrator for Maternal and Child Health (MCH), in the Health Resources and Services Administration (HRSA). The Maternal and Child Health Bureau (MCHB), which I direct, administers a $10 million genetic services programs for infants and children. The primary source of funding for these services is the Special Projects of Regional and National Significance (SPRANS) authority of Title V of the Social Security Act. SPRANS is the Federal Set-Aside portion of the MCH Block Grant.

    Thank you for the opportunity to testify today as you consider what new measures may be needed to enhance current newborn screening systems. We are pleased to bring you up to date on newborn screening activities we are undertaking to improve detection of conditions that threaten the life and long-term health of our infants, to expand and improve State newborn screening programs, and to improve information sharing among screening programs and State systems of care for children with special health care needs.

    Newborn screening programs in the United States are a public health activity run by State health departments to detect congenital conditions for which early and timely interventions can eliminate or reduce serious health problems, including death. Screening takes place within a system with the following components: screening; short-term follow-up; diagnosis; management; and evaluation. Partnerships with providers and families are vital in every component of the system. Ensuring that results of newborn screens are shared with the child's ongoing source of comprehensive care, or "medical home," is a vital part of this system.

    Newborn screening was the first population-based genetic screening program in the United States. Its advent in the 1960's initiated the integration of genetic testing into public health programs. States now screen four million infants each year in newborn heelstick programs notable for their efficiency and cost-effectiveness. The program's success has been dependent upon smooth integration of sample collection, laboratory testing, follow-up, diagnosis, timely treatment, and tracking of outcomes. The universal acceptance of newborn screening for specified conditions over the past three decades attests to the benefits that flow from early testing and prompt, appropriate therapy.

    The MCH program has been involved with newborn screening since long before there was a legislative mandate for a Federal genetics services program. Genetic conditions gained recognition in public health with the introduction of the newborn screening program for phenylketonuria (PKU) in the early 1960s. Funding from the Children's Bureau, home to the MCH program for a half-century, sponsored the early work of Dr. Robert Guthrie, who developed the screening test for PKU. In 1962, after Dr. Guthrie devised a practical system for collection and transportation of blood samples, MCH supported the field trial for the PKU test. The field test eventually involved 400,000 infants in 29 states. State laws mandating newborn screening became the foundation of HRSA's current genetics program.

    The MCH program also played an important role in shaping States' newborn heelstick screening programs. Beginning with the National Sickle Cell Anemia Control Act of 1972 (P. L. 92-294), the 1970's witnessed the establishment of community-based sickle cell screening, counseling and educational programs and the first State-based newborn screening programs for sickle cell anemia. Further Federal legislation in the 1970's broadened screening and services to other genetic disorders. As a result of the laws mandating PKU and sickle cell testing and the establishment of health department newborn heelstick screening units, the goal of providing safe screening tests and appropriate follow-up to every newborn was becoming a reality. By 1978, twenty States had successfully competed and received Federal funding to initiate statewide genetics programs.

    In 1981, newborn screening programs for genetic conditions were consolidated into the MCH Block Grant, as one of six SPRANS categories. For a three-year period during the mid-1980s, Congress also augmented State MCH allotments to encourage statewide newborn screening programs for sickle cell disease. This Federal support led to rapid development of such programs nationwide. Federal funding was welcomed by the States, since the cost of screening tests and coordination of screening activities were seldom included in State health department budgets.

    Within five years, over 40 states had implemented programs to screen newborns for sickle cell diseases. SPRANS support was provided to develop DNA diagnosis of sickle cell disease. It was not until 1990, however, that all 50 States, the District of Columbia, Puerto Rico, and the Virgin Islands had begun to develop statewide capacity for testing, counseling, education, and referral for sickle cell and other genetic disorders.

    Over a 20 year period, beginning in 1975, the MCH program established ten regional genetic service networks and a coordinating body, the Council on Regional Genetic Service Networks (CORN). Early on, CORN served as a focal point for collaborative activities and data sharing among the States. As the need for data integration by States and their newborn screening infrastructures became more complex in the late 1990's, these functions were assumed, in large measure, by the Newborn Screening and Genetics Resource Center, at the University of Texas Health Science Center at San Antonio. Under the direction of Dr. Bradford Therrell, this Resource Center was established in 1999, through a cooperative agreement with HRSA, to provide technical assistance to the States for newborn screening and genetics. The Center also provides a forum for interaction between consumers, health care professionals, researchers, organizations, and policy makers in refining and developing public health newborn screening and genetics programs. In addition, through its website, genes-r-us.uthscsa.edu/, it serves as a national resource for information and education on newborn screening and public health genetics. The Newborn Screening and Genetics Resource Center, along with the Association of Public Health Laboratory Directors, currently receives SPRANS funds to assemble and evaluate data collected by the States using a newborn screening data set.

    State newborn screening programs are accountable to HRSA for certain performance measures. One measure monitors State activities in newborn screening for PKU, hypothyroidism, galactosemia, and hemoglobinopathies (e.g. the sickle cell diseases). States report on the percentage of infants that they screen for each of these medical conditions, individually or combined. HRSA also collaborates with the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) to bring their expertise to bear on the full range of activities needed to support quality newborn screening at the State level. NIH and CDC make major contributions to newborn screening in the areas of research, quality assurance, data, and policy.

    Continuing its historic involvement with State public health newborn screening programs, in 1998, HRSA's MCH Bureau asked the American Academy of Pediatrics (AAP) to convene a national Newborn Screening Task Force to evaluate ethical, legal, social, and economic issues surrounding State newborn screening programs in a dramatically changing environment. Comprised of 25 leading health professionals and experts, the Task Force met from 1998-1999 to address the need for greater uniformity in the medical conditions for which screening is required in State newborn screening programs and the need for State infrastructure to keep pace with rapidly evolving newborn screening technologies. The appearance on the horizon of simpler tests to detect a larger group of metabolic and genetic disorders highlighted the urgency of the Task Force's mandate. The Task Force was supported by the National Institutes of Health, the Centers for Disease Control and Prevention (CDC), and other interested Federal agencies; the Genetic Alliance; a consortium of consumer groups; and several public health organizations.

    The Task Force report, "Newborn Screening: A Blueprint for the Future," was published on August 7, 2000, as a supplement to the AAP's scientific peer-reviewed journal, Pediatrics. The report identified a number of problems with existing newborn screening systems with which physicians, public heath officials, parents and public officials have grappled. Among these: an absence of national oversight for policies and procedures for state newborn screening programs; no consistent approach to follow-up, diagnosis and management that is centered in a community system of care; no national standards for treatment and follow-up or quality assurance; and lack of State preparedness for integration of newer technologies--DNA-based or tandem mass spectrometry--into newborn screening programs.

    Based on its findings, the Task Force report called for a national agenda for strengthening each State newborn screening system. Further, it recommended that, as the Federal agency with the most responsibility for newborn screening system development, HRSA should engage in a national process involving Federal and State public health agencies, in partnership with health professionals, and families, to:

    • Better define public health responsibilities for Federal and State public health agencies.
    • Develop and disseminate model state regulations to guide implementation of state newborn screening systems (including disease and test selection criteria).
    • Develop and evaluate innovative testing technologies.
    • Design and apply minimum standards for newborn screening activities (e.g., sample collection, laboratory quality, sample storage, and information systems).
    • Develop and disseminate model follow-up, diagnosis, and treatment guidelines and protocols for health professionals, and other participants in the newborn screening system.
    • Design and evaluate model systems of care that are community-based and family centered.
    • Design and evaluate tools and strategies to inform families and the general public more effectively.
    • Fund demonstration projects to evaluate technology, quality assurance and health outcomes.

    Since publication of the report of the Task Force on Newborn Screening, HRSA has established SPRANS funding priorities to implement as many of its recommendations as possible within existing resources. I would like to share with the Committee some examples of projects we are sponsoring that are aimed at moving us into the future of newborn screening.

    The Task Force report noted that State newborn screening programs are not uniform in infrastructure, policy establishment, laboratory capacity, screening techniques, or legal requirements for the scope of services. Reflecting differences in community values, State political and economic environments, and public health technical capabilities, the array of screening tests conducted by the States varies widely and changes periodically, resulting in unequal access to screening across States. Mechanisms for deciding which tests to perform also vary widely by State.

    • In FY 2001, with the need for more uniformity a high priority, MCHB contracted with the American College of Medical Genetics (ACMG) to convene a group of experts to outline a process, based on the best scientific evidence, to standardize outcomes and guidelines for State newborn screening programs, and to define responsibilities for collecting and evaluating outcome data. MCHB expects this contract to produce a definitive recommendation for a uniform panel of medical conditions for States to adopt in their newborn screening programs. The contract also includes the development of model policies and procedures, minimum standards for State newborn screening programs, and minimum treatment guidelines for identified medical conditions. In addition, the project will develop a protocol for determining future additions and deletions of conditions to newborn screening programs. This protocol will include a matrix that outlines the best evidence for screening a particular medical condition. The matrix is intended as a tool for State health departments to facilitate decisions, now and in the future, as to what conditions and technologies to make part of their State newborn screening programs. Results of the ACMG contract will be available in the Fall of 2003.

    State newborn screening systems are expected to assure coordination among the entities that comprise the backbone of newborn screening systems–the hospitals, the laboratory and diagnostic centers, the infant's medical home, and the subspecialists to whom the infant is referred for further diagnosis and treatment. However, linkages between screening programs and early intervention programs are still not well established. Data management and tracking of infants through this process are in the developmental stage. The Task Force endorsed continuation of grants to States for development of newborn screening information systems, with a focus on process and outcome evaluation, development of standardized data sets, analyses of efficiency and cost-effectiveness, and integration with other public health data sets.

    • In 1998, MCHB began support for an initiative to stimulate the integration of newborn screening information systems among the hospitals, the laboratory and diagnostic centers, the infant's medical home, and the subspecialists to whom the infant is referred for further diagnosis and treatment. Several States--Rhode Island, Massachusetts, Missouri, Iowa, Hawaii, Washington, Michigan, Oklahoma, and Utah and the District of Columbia--have progressed from planning to implementation grants to proceed with program and information system integration. These projects are expected to enhance States' capacity to monitor access to care and outcomes related to maternal and child health; and to better integrate State genetic newborn screening programs with the State Title V community-based system of services for Children with Special Health Care Needs. MCHB plans to continue with this initiative over the next several years.

    Technological advances will continue to have a significant impact on newborn screening programs. Each new test or technology brings with it the ability to screen for and diagnose a larger group of disorders in a single process, including disorders for which no effective treatment now exists or for which early intervention may not alter the clinical course or outcome. Often, little is known about the clinical course of these disorders, including the point at which interventions should occur and the mechanisms through which access to expert follow-up treatment can be assured for all who need it. Little is also known about the cost-effectiveness of these technologies within newborn screening programs. With the aim of providing more sensitive, more specific, and less costly tests, the Task Force endorsed demonstration projects to evaluate new and evolving technologies (e.g., tandem mass spectrometry, and DNA-based screening technology). The Task Force recommended that support for any new innovations in testing technology also recognize the need for integrated information systems.

    • In FY 2001, MCHB funded demonstration projects to identify strategies and develop materials for examining the clinical validity and utility of new and emerging technologies within newborn screening programs. States funded in FY 2001 were California and Massachusetts. These are multi-state grants; California is partnering with Hawaii, and Massachusetts is partnering with New York. Another group of States will be awarded grants before the end of FY 2002.
    • This year, HRSA and the National Newborn Screening and Genetics Resource Center has conducted two sessions to train State newborn screening program laboratory scientists in the use of tandem mass spectrometry. These sessions are co-sponsored by CDC and the Association of Public Health Laboratory Directors. As part of this initiative, HRSA also co-sponsored two national meetings which addressed issues faced by States in implementing tandem mass spectrometry screening.

    The Task Force recommended that cost-effectiveness studies be conducted to evaluate tests and technologies used in newborn screening programs.

    • Both the previously described California and Massachusetts programs will collect information on this issue. In addition, in FY 2001, MCHB funded the Hastings Center to examine the fair distribution and costs benefits of newborn screening. The results of that report are expected during the Summer of 2002.

    The Task Force viewed as critical the need for health professionals to be familiar with their State's newborn screening program. Since its inception, newborn screening has been a shared concern of public health departments, health professionals, and families. Within newborn screening systems, there are critical intersections between system components where responsibilities and coordinated activities must be seamless and not duplicative. The importance of effective partnerships between public programs and primary care physicians is most evident in these intersections.

    • While much of the educational effort for health care professionals devolves to State programs, since 1999, MCHB has funded the AAP to educate its membership about newborn screening. The Academy maintains a member website dedicated to screening initiatives. The AAP also performed two surveys–one of pediatricians to ascertain their knowledge of their States' newborn screening programs and how well pediatricians thought the programs were performing. The second survey was of State programs to ascertain how they defined the roles and responsibilities assigned to the screening program and those assigned to the community-based pediatrician. The surveys showed that improvements in communications are needed to achieve the Task Force's recommendation that primary care physicians be notified of screen-positive results within 5-7 days of testing. This is especially crucial for disorders that are life-threatening.

    The Task Force also recognized the need to educate families. A particular concern was the need to evaluate more thoroughly the process of informed consent, especially in relationship to the use and storage of the residual newborn screening sample.

    • MCHB has funded two national cooperative agreements since FY 2000, that focus on the education of families. One project is with the March of Dimes; the second project is with the Genetic Alliance. Both feature special initiatives to educate families about newborn screening.
    • MCHB has funded the University of California at Los Angeles to examine the informed consent process used in State newborn screening programs. UCLA will carry out this project in partnership with three States--Utah, Maryland and California.

    We feel strongly that newborn screening is more than a screening test. The screening test is only part of a newborn screening system that includes follow-up, diagnosis, management and treatment, evaluation and education. In the coming years, we plan to address more comprehensively these components of the system. For example, the Task Force recommended a concerted and coordinated effort at the State level to train and educate our health professionals and State newborn screening program directors in the use of newer technologies, such as tandem mass spectrometry. To advance health care expertise, we would implement the Task Force's suggested regional approach to organizing metabolic centers for referral and treatment. For laboratory personnel and health professionals, we would need to support education, technical assistance, and training in new discoveries and use of its related technology. The effort must include training in evaluating what screens an infant should receive, and when and where screening should take place. It must also train them in the use of a family history approach to communicate the risk of certain newborn disorders.

    A similar effort needs to be made with families and parents. They need to understand what newborn screening is, how is it done, who performs it, and where. They also need information about the medical conditions the State mandates and offers in its screening program, and the options available for screening for conditions in addition to those for which the State screens. To enhance the awareness of prospective parents to the benefits and potential risks associated with newborn screening, we would mount a multimedia campaign similar to the highly successful "Back to Sleep" initiative co-sponsored by MCHB and the National Institute on Child Health and Human Development to educate parents and the public about SIDS.

    CONCLUSION

    Through the MCH program, HRSA has served as the primary agency for exerting Federal leadership to improve State and local systems that provide for screening, counseling, testing or specialty services for infants and children at risk for heritable disorders; to improve access of medically underserved populations to these services; and to establish guidelines for newborn screening systems and the health care professionals who serve as the medical home or provide subspecialty care to infants identified through screening.

    In keeping with its past, the MCH program continues to be committed to strengthening the Nation's newborn screening programs. We need to be particularly strong at the Federal level in equalizing access to newborn screening services across States, as well as in assuring access to expert follow-up treatment for all infants who need it. Our efforts continue, with funding priorities clearly focused on implementing the recommendations of the Task Force on Newborn Screening, while operating within the structural limits of the MCH Block Grant.

    Thank you, Mr. Chairman and members of the Subcommittee, for the opportunity to testify before you today. I would be happy to answer any questions that you might have.


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Last revised: September 23, 2002