June 14, 2002

Good morning. Mr. Chairman, members of the Committee, I am Jeffrey Botkin, MD, MPH, FAAP, a general pediatrician in Salt Lake City with 20 years of clinical experience in both private practice and academic practice. In addition to taking care of infants, children and adolescents, I currently teach at the University of Utah School of Medicine in the Departments of Pediatrics, Internal Medicine and Human Genetics.

I am pleased to be here today representing the American Academy of Pediatrics, the American Pediatric Society, the Association of Medical School Pediatric Department Chairs, and the Society for Pediatric Research. Together, these organizations represent the nation's primary care pediatricians, pediatric medical subspecialists, pediatric surgical specialists, pediatric educators and pediatric researchers. Through our combined work providing clinical care, conducting research and educating tomorrow's pediatric workforce, we know first hand the opportunities and responsibilities surrounding newborn screening.

Currently, I serve as the chairperson of the Academy’s Committee on Bioethics. In addition, I have served as the Chair of the Genetics Advisory Board to the Utah State Department of Health, and I am an advisory board member for the Utah State Birth Defects Registry. I was a member of the Academy's Newborn Screening Task Force. I also have published extensively on the ethical, legal and social issues of genetic testing.

On behalf of the organizations I represent today, I would like to thank the Committee for the opportunity to testify on the important matter of newborn screening. With early identification and timely intervention, we have the ability to significantly reduce morbidity, mortality and associated disabilities in infants affected with certain genetic, metabolic and infectious conditions. With these opportunities, however, we also have a responsibility to ensure that careful consideration is given to the testing and screening of children so that emerging technologies are used in ways that promote the best interest of the child. For example, although many states have made great progress in the area of newborn screening, we still have a long way to go to ensure that every child, born in any state, has the same opportunity for detecting if he or she has a metabolic or genetic disorder. We also have much work to do to ensure that all children who are identified through newborn screening receive early and appropriate treatment and care coordination through a medical home.

The pediatric community strongly supports the work of this Committee in leading congressional efforts to enhance, improve and expand the ability of all states to provide newborn screening, counseling and health care services. Your efforts, exemplified by Title XXVI of the Children's Health Act of 2000 (P.L. 106-310), potentially could improve the lives of children. Similarly, the work of HRSA's Maternal and Child Health Bureau, the National Institutes of Health, and the Centers for Disease Control and Prevention have clearly helped to advance the important science of newborn screening nationwide.

Now more than ever, it is important for us to build on and expand the knowledge and information we have and to make smart, sensitive decisions about how best to effectively integrate new technology and resulting capabilities into the nation's newborn screening systems. I offer the following testimony to assist federal efforts to improve and enhance state newborn screening programs.

Throughout my testimony, I will highlight several key findings of the Academy's Newborn Screening Task Force, which was convened by the Academy and the Maternal and Child Health Bureau in 1999. The findings and recommendations of this Task Force are applicable and relevant today. In addition, I will provide specific examples based on my experience as a pediatrician that I hope will help illustrate both the value of newborn screening and its potential given proper resources and support.

I. The Importance of a Strong Public Health Infrastructure

Because newborn screening involves more than just testing, it is imperative that newborn screening systems be placed within a strong public health infrastructure. An effective screening system includes: pre-testing education for the consumer and public, sample collection, laboratory testing, follow-up (both short-term and long-term), prompt diagnosis, appropriate treatment, information management and system evaluation. Public health agencies, at both the state and federal level, have a responsibility to ensure the quality of newborn screening systems. As you look to support and strengthen newborn screening programs within the public health infrastructure, federal attention should be given to (1) developing uniform, national standards, guidelines and systems; (2) building a quality assurance program to assist state labs; and (3) creating opportunities for greater coordination and collaboration within and between states.

1. Developing Uniform, National Standards, Guidelines and Systems: Since the technology was first realized, states and territories around the United States have moved to include newborn screening as part of their preventive public health system. However, considerable variability currently exists at the state level in such critical areas as the number and types of conditions included as part of the screening panel, laboratory capacity, treatment protocols, and the scope and availability of follow-up care. For example, all 50 states and the District of Columbia currently test for PKU and congenital hypothyroidsim and all but one screen for galactosemia. However, 24 states require testing for biotinidase; 23 states require testing for maple syrup urine disease and 15 states require testing for homocystinuria. Because advances in science and technology are continually making it possible to screen for additional conditions, the decision about which tests to include in a newborn screening panel are complex. Without minimum standards or guidelines in place to help states assess what tests are effective and relevant to their population, children are being subjected to a different panel of tests depending on the state in which they are born.

   This inconsistency among states may lead to negative health effects for children due to the potential use of tests of limited efficacy in some states and the failure to use beneficial tests in others. These discrepancies highlight the need for uniform national policy on the selection of newborn screening tests, as well as common guidelines for newborn screening systems, including development of follow-up systems that provide continuity of care. Because it is important to have a system of guidelines in place that can be modified as the environment changes and as technology advances, the Academy supports the development of criteria that would be used to determine when a test should be included in a list of recommended screenings. Such criteria would help to ensure that infants across the country have - and continue to have - equitable access to newborn screening and its potential benefits.

2. Building a Quality Assurance Program: Today, all newborn screening testing must be performed by laboratories that meet the requirements of the Clinical Laboratory Improvement Amendments (CLIA) of 1988, which include criteria for quality control and proficiency testing programs. With the support of HRSA, the Centers for Disease Control and Prevention (CDC) initiated the Newborn Screening Quality Assurance Program (NSQAP) more than 23 years ago. This program has enabled laboratories to meet the CLIA quality assurance requirement for verifying test accuracy. Given the many emerging issues in the area of newborn screening, there is currently a need to build and fund a new mechanism for providing oversight and assuring quality in laboratories nationwide. Such a mechanism must be both sustained and expanded as states adopt new screening technologies and modalities.
3. Creating Opportunities for State Collaboration and Coordination: Once uniform national guidelines and appropriate quality assurances are in place, states should be encouraged to integrate their screening programs with other child health programs, including birth registration, immunization, newborn hearing screening and WIC. The fact that these various activities are supported by different federal agencies means all agencies must work together to maximize resources and improve results. Federal support should be made available for demonstration projects to explore information and services linkages, and to establish interdisciplinary, interagency advisory boards comprised of state public health officials, health professionals and parents. It is only through such coordination that states will be able to significantly improve the efficiency and effectiveness of their newborn screening systems.

II. The Need to Build Partnerships Among All Stakeholders

In addition to a strong public health infrastructure with national guidelines, extensive quality assurances and state and local coordination, an efficient, effective newborn screening system requires the concerted and dedicated effort of multiple stakeholders. For each baby, newborn screening programs involve the participation of a number of individuals including one or more physicians, hospital personnel, laboratory personnel, state health department personnel and parents. The effectiveness of the programs will be limited unless each of these stakeholders is an active, knowledgeable participant in the process: Simply put, the chain of participants is only as strong as its weakest link. As such, it is critical that all health care professionals and parents are knowledgeable of their state’s newborn screening program and are prepared to engage in the process. The federal government can support these stakeholders through programs that educate and build awareness of the roles and responsibilities of each stakeholder in the newborn screening process, as well as through programs that foster strong partnerships between the various stakeholders. In providing this support, two key stakeholders that must be considered are (1) health care professionals and (2) parents.

1. Health Care Professionals and the Medical Home: Effective newborn screening programs require the participation of health care professionals who can educate parents about the newborn screening program, respond promptly and appropriately to positive, negative and even ambiguous` screen results, and collaborate with families and health departments in managing the diagnosis and treatment of infants. One current challenge is the ability of the state newborn screening program to identify a pediatrician or other health care professional who is responsible for responding to screening test results. These professionals may not have been identified in hospital records, or may not have been selected by parents at the time of birth. It is important that prenatal health care professionals, primary care health professionals and parents work together to ensure that at the time of birth a child has an identified medical home to help provide a seamless system of care throughout the newborn screening process. The Academy believes that every child should have a medical home, which is defined as care that is accessible, family-centered, continuous, comprehensive, coordinated, compassionate and culturally-effective. In addition to managing all aspects of newborn’s screening process, a pediatrician or other primary care health professional who is responsible for establishing a child’s medical home needs to assist the family in understanding the system of screening and the resources available to support the care of the child.

   A second goal is ensuring that pediatricians and other primary care professionals are sufficiently educated about newborn screening tests and conditions. Conditions for which newborn screening programs test are relatively rare. Therefore, most primary care professionals have limited experience with many of these conditions in their practices. There are significant challenges in maintaining the expertise of physicians to that they can be active, knowledgeable participants in newborn screening programs. These challenges will be heightened by the progressive introduction of new tests and new test technology in screening programs.

2. Educating and Involving Parents: In addition to the health care professionals' responsibilities, the parents’ active role is essential to an effective newborn screening process. At a minimum, parents should understand that the "heelstick" involves screening for a number of uncommon conditions that could seriously affect the health of their child. In the event of a positive test result, parents should understand that a prompt evaluation of the infant is essential. Parents should also understand that many initially positive tests prove to be false positives, meaning that the child is not affected with the condition. Unfortunately, parents currently do not always obtain a basic knowledge of the program unless or until their child receives a positive test result. Inadequate education of parents may lead to a slow response to a critical situation if the result proves to be a true positive, or excessive alarm about the child’s health if the test result proves to be a false positive. Prospective parents should receive information about newborn screening during the prenatal period, and pregnant women should be made aware of the process and benefits of newborn screening and their right of refusal before testing. This knowledge should be enhanced after delivery by further educational materials, as well as discussions with the infant’s primary care health professional.

   To build this foundation of knowledge and formation of effective partnerships, studies should be conducted to broaden our understanding of the ways in which communication can be done more effectively to benefit the various stakeholders. With input from parents and health professionals, states need to also be provided with the support to develop and distribute educational materials. These materials should be evaluated and updated on an ongoing basis.

   In addition, as new newborn screening tests are evaluated through clinical research, it will be essential to have an infrastructure in place by which parents can make informed choices about their participation and their child’s participation in newborn screening research.

III. The Role For Surveillance and Research

Surveillance and research are important activities that impact the growth of the newborn screening system. Without surveillance activities, such as performance measurement or outcome evaluations, it is difficult to assess the degree to which a particular newborn screening program benefits infants. The federal government has and should continue to have a major role in strengthening newborn screening surveillance and research activities by (1) setting a national research agenda and (2) providing federal research grants.

1. Setting a National Research Agenda: A federally-funded newborn screening research agenda should aim to: develop better tests (e.g., more sensitive, more specific, and less costly); assess the validity and utility of new technologies (e.g., tandem mass spectrometry, DNA-based testing, and other evolving technologies); and define appropriate uses of residual biologic samples for a population-based research and surveillance.

   Pilot studies should be undertaken to demonstrate the safety, effectiveness, validity, and clinical utility of tests for additional conditions and new test modalities. Since the 1960s, decisions about which tests to use in newborn screening programs often have been made in an extemporaneous fashion, depending on recommendations from various stakeholders. Screening for sickle cell disease is one of the few instances where empirical evidence of safety and efficacy from a clinical trial influenced the use of a newborn screening test. Surveillance and research are essential to provide the evidence needed for state-level decisions and nationally recognized standards. The federal government can play a significant role in initiating and sustaining this type of research.

2. Providing Federal Research Grants: In addition, federal grants should be provided to states to stimulate the development of newborn screening information systems that are connected to the medical home, with a focus on newborn screening system process and outcome evaluation, development of standardized datasets, analyses of cost-efficiency and effectiveness, and integration with other public health data systems. Record linkages, or the process of relating information about individual newborns from different information systems, provides an approach to integrating information management within a program and integrating information across programs.

   IV. Translating Federal Leadership Into State Action

   While the recommendations outlined above relate most directly to the federal government, their implementation would have immediate and profound effects at the state level. Take for example my home state of Utah. Our newborn screening program is staffed by excellent, knowledgeable professionals. In addition, we have a number of primary care providers, subspecialty physicians and parents who volunteer their time and expertise to support the newborn screening program. However, our program is simply too small to quickly undertake the comprehensive evaluation necessary to consider new tests. Similarly our program is challenged to promote the on-going education of physicians, parents and hospital personnel that is essential to maintaining the efficacy of the program. To best serve the families of Utah, our newborn screening program would benefit substantially from a coordinated, national effort to define appropriate and effective tests and to develop efficient and effective educational approaches and materials for parents, physicians and hospital personnel. There is no good reason for states to independently undertake these complex analyses and decisions. A national collaboration to support these critical public health programs will be a great benefit to children in all states and, indeed, to children of other nations that may look to the United States for leadership on these issues.

   V. Next Steps

   Efforts to review, enhance and sustain strong systems of newborn screening in every state are extremely valuable. Title XXVI of the Children’s Health Act currently provides a framework for pursuing many of the goals and objectives we support and we therefore encourage Congress to fully fund Title XXVI. In addition, we recommend building upon the tenants of Title XXVI to further enhance and support newborn screening programs. Specifically, we recommend that Congress:

   • Support a National Advisory Committee to develop uniform national policy on the selection of newborn screening tests, as well as common guidelines for newborn screening systems, including development of follow-up systems that provide continuity of care.
   • Build and fund a mechanism for providing oversight and assuring quality in laboratories nationwide.
   • Strengthen current mechanisms to improve coordination of infant health programs and initiatives within the state and/or between states, including continuation of funding in support of newborn screening program reviews.
   • Support research on education and develop programs that strengthen and enhance communication and partnership between the various stakeholders, including pediatricians and other health care professionals, parents and public health officials. This may include creating and distributing educational materials.
   • Strengthen the infrastructure for newborn screening surveillance and research activities, including developing better tests, assessing the validity and utility of new technologies, and defining appropriate uses of residual biologic samples for population-based research and surveillance.
   • Fund state demonstration programs that support the development of newborn screening information systems, including linkages with other infant health services and programs, that are connected to the medical home.

   I appreciate the opportunity to present the thoughts and recommendations of the American Academy of Pediatrics, American Pediatric Society, Association of Medical School Pediatric Department Chairs, and the Society for Pediatric Research. We look forward to working with Congress on the issue of newborn screening. I would be pleased to answer any questions you may have.

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