Secretary's Advisory Committee on Genetic Testing
Carr, Sarah, Goodwin, Suzanne M., National Forum
Its Emerging Role in Public Policy Deliberation on Genetic Tests
The Secretary's Advisory Committee on Genetic Testing (SACGT) was established by the U.S. Secretary of Health and Human Services, Donna E. Shalala, to provide a public forum for the formulation of policy advice in the complex and growing area of genetic testing. After a careful nomination and selection process, the Secretary announced the appointment of thirteen advisors to the SACGT in June 1999. The first meeting of the SACGT was held June 30, 1999. This article describes the purpose, formation, and function of the SACGT. Before addressing these questions about the role of the SACGT, we first will explain what genetic testing is, how it is currently used, and what new uses it may be put to in the future.
WHAT IS GENETIC TESTING?
Genetic testing is the analysis of genes or gene products to detect mutations that result in genetic disease or increase a person's susceptibility to disease. A mutation is the omission, addition, or alteration of one or more nucleotides, the building blocks of genes. When a mutation occurs, the gene may not be able to produce the protein it is meant to make or may produce an altered form or too much or too little of the protein. Sometimes an entire gene is absent, and the protein it is programmed to produce cannot be made. In other instances, genes switch locations and are inappropriately or permanently turned on or off. When such events occur, chemical processes or reactions in which the protein is involved may happen incorrectly or not at all, leading to a genetic disease.
Mutations can be inherited or develop throughout one's lifetime. Inherited mutations are found in every cell of the body, whereas acquired mutations occur sporadically in individual cells. Currently, more than 4,000 diseases are thought to stem from inherited gene mutations. Some of these diseases, such as sickle cell anemia and cystic fibrosis, are caused by a single gene mutation while others, such as heart disease and most cancers, arise from a complex interplay between multiple genes and between genes and environmental factors.
Genetic testing detects mutations in several ways. DNA and its nucleotides, taken from cells in a sample of blood or from other body fluids and tissues, can be analyzed to detect alterations in the biochemical composition of DNA, in chromosomes, or in gene sequences, indicating the possibility of genetic disease. Genetic tests can also use RNA (DNA directs the production of RNA, which directs the production of proteins) to detect inheritable disease-related mutations. In addition, mutations can be detected by biochemical testing for the presence or absence of key proteins or metabolites that signal aberrant genes.
Newborn screening, which is mandated by law in most states, is currently the most common form of genetic testing. Every infant born in the United States today is screened for phenylketonuria and congenital hypothyroidism, and those born in certain states are screened for additional disorders. Genetic testing is also performed for other purposes, including to establish prenatal and clinical diagnoses, to determine paternity, and to aid forensic investigations. Increasingly, it is used to predict an individual's risk of developing a genetic disease in the future and to identify carriers, individuals who will not develop the disease themselves but may conceive a child who will have the disease. In addition, genetic tests are used to test for genetic defects arising from acquired diseases such as genetic cancers.
According to GeneTests(TM), a directory of clinical laboratories providing testing for genetic disorders, genetic testing is clinically available for 339 diseases, and more than 216 laboratories in the United States perform such tests. Testing is available for an additional 325 diseases on a research basis only;194 laboratories conduct these research tests. Most of these tests are for rare, single or contiguous gene disorders and are used to make or confirm a diagnosis. However, genetic testing is available for about twenty-five more common, complex conditions that do not manifest until later in life. These tests can be used to determine whether currently healthy individuals have a mutation that might increase their susceptibility to these diseases. Susceptibility tests are available for breast, ovarian, and colon cancer, and certain forms of Alzheimer's disease, among other diseases.
WHAT IS THE PURPOSE OF THE SACGT?
The SACGT's mandate is to help the Department of Health and Human Services (DHHS) address the broad array of complex medical, ethical, legal, and social issues raised by genetic testing. According to its official charter the SACGT is to advise and make recommendations to the Secretary through the Assistant Secretary of Health on all aspects of the development and use of genetic tests. It may recommend policies and procedures for the safe and effective incorporation of genetic technologies into health care practice; assess the effectiveness of existing measures for oversight of genetic tests and determine whether there is a need for other measures; and identify research needs related to the Committee's purview.
WHY IS THE SACGT NEEDED?
The SACGT is needed to help DHHS analyze the challenges and opportunities raised by genetic testing and, through public consultation and deliberation, to develop principles, guidelines, frameworks, or strategies that will help ensure that genetic tests are safely and appropriately incorporated into America's health care system and practice. Today, we are reaping the benefits of decades of genetic research with a wealth of knowledge that has already had a significant effect on the practice of medicine. The Human Genome Project is uncovering an astounding amount of information about genes and gene mutations, and by 2003, the entire human genome is expected to be sequenced. Innovations in molecular genetics and genetic testing are bringing about rapid changes in health care, and they are expected to revolutionize the practice of medicine and health care delivery in the coming decade.
For the most part, there is good reason to celebrate the advances in genetic research and test development. The ability to identify genes that cause or play a role in disease holds promise for preventing disease, understanding and promoting health, and lowering mortality and morbidity. At the same time, these advances are posing significant challenges to the U.S. health care system. New policy constructs are needed to ensure the safety and effectiveness of genetic tests and their appropriate use in clinical and public health practice. Concern about the implications of genetic information has raised the nation's awareness of the need for additional safeguards for the protection of medical information and to prevent it from being used to discriminate against or stigmatize individuals. Health professionals need to be better educated about genetic technologies, and they must be capable of using and interpreting genetic information in practice. Efforts must be made to improve the genetic literacy of the public to enhance understanding of the benefits, risks, and limitations of genetic testing and the meaning and implications of genetic information.
Our current dilemma is that our technological capabilities are outpacing our knowledge and understanding of gene function, disease pathogenesis, and treatment. At this stage in our understanding and knowledge, genetic tests have significant limitations, and they are not without risk, espe cially when they are used for predictive purposes. Tests can have negative consequences if they are flawed or used inappropriately or prematurely in a clinical setting; if rights to privacy and confidentiality are not respected; if test results and their significance are communicated inaccurately or are misunderstood by health care providers and patients; or if tests are administered without adequate attention to the psychosocial ramifications associated with testing.
These negative consequences can affect not only the individual who is being tested, but any person genetically linked to the tested individual. Also, the number of individuals being tested grows each year as the number, accuracy, and accessibility of genetic tests increase. As a result, genetic testing and its implications are affecting the lives of more and more people and will continue to do so, especially as its role in primary care and public health widens. As the potential for serious consequences becomes more real to a greater number of people, it is essential that the issues are considered now and that the public is aware of those issues and contributes to the development of policies to address them.
The critical need for expert policy advice on genetic testing was identified by three recent comprehensive studies on the scientific and social ramifications brought about by genetic research and the sequencing of the human genome (Assessing Genetic Risks: Implications for Health and Social Policy, Institute of Medicine, 1994; Report of the Joint National Institutes of Health-Department of Energy Committee to Evaluate the Ethical, Legal, and Social Implications Program of the Human Genome Project, December 1996; and Promoting Safe and Effective Genetic Testing in the United States, National Institutes of HealthDepartment of Energy Task Force on Genetic Testing, September 1997.) Other scholars have called for the creation of a national advisory body to monitor genetics research developments, to provide a forum for discussions of the ethical, legal, and social issues raised by genetic testing, to coordinate public and professional education, and to advise policy makers, health professionals, and the public. (See, for example, Wilfond, B and Nolan, K in "National Policy Development for the Clinical Application of Genetic Diagnostic Technologies," JAMA, December 22/29, 1999, Vol. 270, No 24.)
WHO ARE THE COMMITTEE MEMBERS?
The current SACGT members are listed on page 30. They are thirteen non-governmental experts who are leading authorities in relevant medical, scientific, and professional fields, including genetic testing, medical genetics, genetic counseling, primary health care, public health, clinical laboratory management, diagnostic technology, ethics, law, psychology, and social sciences, as well as patient/consumer advocates. Because the Clinical Laboratory Improvement Advisory Committee, a committee of the Centers for Disease Control and Prevention, and the Medical Devices Advisory Committee, a committee of the Food and Drug Administration, have relevant roles in ensuring the quality and safety of genetic testing laboratories and genetic test kits, a current member of each of these committees also serves on the SACGT
The Committee also consists of six nonvoting, ex officio members who represent the DHHS agencies that have roles and responsibilities regarding genetic testing. The agencies are the Agency for Health Care Policy and Research; Centers for Disease Control and Prevention; Food and Drug Administration (FDA); Health Care Financing Administration; Health Resources and Services Administration; and National Institutes of Health. These agencies must collectively address the broad array of important and complex policy issues raised by genetic testing, and the service of their representatives on the Committee will help foster program and policy coordination on these matters as well as provide an important source of information about DHHS policies and programs.
WHAT SPECIFIC ISSUES WILL IT TACKLE?
The SACGT held its first meeting June 30, 1999. The Committee's main objectives for the first meeting were to be briefed on their role and function; to review and establish a plan for addressing questions associated with the oversight of genetic tests, which it was assigned to do by Assistant Secretary for Health and U.S. Surgeon General David Satcher, M.D., Ph.D.; and to discuss and identify other high priority issues for future study. The SACGT heard presentations on advancements in the Human Genome Project and the impact this knowledge is likely to have on genetics research and the development and application of genetic tests; the major findings and recommendations of the NIH/DOE Task Force on Genetic Testing that relate to the activities of the SACGT; the role of the Clinical Laboratory Improvement Amendments (CLIA) in regulating laboratories that conduct genetic tests and the role of the Clinical Laboratory Improvement Advisory Committee (CLIAC); recent recommendations of the CLIAC with regard to providing more specific CLIA requirements to govern the performance of genetic tests; and the FDA's role in regulating genetic test kits and components of genetic tests and the role of the Medical Devices Advisory Committee. The SACGT also heard from members of the public and considered their views in identifying the high-priority issues.
After these presentations, the Committee discussed its assignment to analyze the adequacy of current federal government oversight of genetic tests and to consider several questions about whether other mechanisms were necessary to ensure test safety and effectiveness before clinical application. A crucial part of the analysis must involve gathering and assessing public perspectives on the need for additional oversight. The Committee decided to divide into two working groups to complete their assignment - one to develop a framework for addressing the oversight questions and another to identify options for seeking public perspectives on oversight of genetic tests that is, beyond the traditional method of requesting comments through the Federal Register. The Committee will meet again in the fall to finalize the framework and to come to agreement on the outreach mechanisms.
The Committee then turned to a discussion of other high priority issues to be considered over the next one or two years. After an extensive discussion of a broad range of issues, the Committee identified the following issues as high priority:
education, including counseling and comprehensive education of professionals and the public;
access to testing;
diversity issues, particularly special concerns raised by the use of genetic tests in ethnic and minority populations;
stigmatization, including concerns about insurance discrimination and privacy and confidentiality;
rare disorders, including access to rare disease testing;
introduction of tests into clinical practice;
use of evidentiary-based models and outcomes assessment;
economic issues in genetic testing and oversight; and
the impact of direct marketing of tests.
Committee members acknowledged the broad scope of these issues, and the role of other entities in addressing some of them. They recognized the need to focus their attention on matters upon which they can make a unique contribution and have the highest impact. The SACGT also made a commitment to evaluate its role, effectiveness, and accomplishments at the end of two years of operation.
WHAT WILL THE SACGT ACCOMPLISH?
The SACGT will provide a national public forum for discussion of the critical issues related to genetic testing. It will identify emerging issues and gather additional expert input from a wide variety of individuals, organized groups, researchers, and private industry as new issues emerge. It will promote public awareness of genetic testing and the related issues, consider the questions that remain unanswered, and formulate policy recommendations to address them. Thus, the SACGT will have a role to educate and consult the public, as well as a policy advisory role. It will monitor efforts and responses to the issues made by the many groups who are interested in and potentially affected by the proper integration of genetic testing into clinical and public health practice, including concerned members of the public, voluntary health groups, professional societies, the research community, government agencies, and Congress. It will also serve as a forum for the coordination of information, activity, planning, and policy development among the six ex officio agencies that have a role in these issues.
HOW CAN YOU PARTICIPATE?
If you have an interest in the issues raised by genetic testing and would like to learn more about or participate in the proceedings of the SACGT, visit our website at http://www.nih.gov/od/orda/ sacgtdocs.htm. To correspond with the SACGT, please contact Sarah Carr via e-mail at sc firstname.lastname@example.org or by writing to the Office of Recombinant DNA Activities, Office of Science Policy, National Institutes of Health, 6000 Executive Boulevard, Suite 302, Bethesda, Maryland, 20892-7010.
SECRETARY'S ADVISORY COMMITTEE ON GENETIC TESTING
Edward R.B. McCabe, M.D., Ph.D.
Professor and Executive Chair
Department of Pediatrics
University of California, Los Angeles
Mattel Children's Hospital
10833 Le Conte Avenue, 22-412 MDCC
Los Angeles, CA 90095
Patricia A. Barr
Bar, Stemberg, Moss, Lawrence, & Silver, PC
507 Main Street
North Bennington, VT 05257
Kate C. Beardsley, J.D.
Buc & Beardsley
919 Eighteenth Street, N.W
Washington, DC 20006
Ann Happ Boldt, M.S.
Certified Genetic Counselor
Maternal Fetal Medicine and Genetics Center
St. Vincent Hospital Family Life Center
2001 West 86th Street
Indianapolis, IN 46240
Joann Boughman, Ph.D.
Vice President for Academic Affairs
Dean of the Graduate School
University of Maryland, Baltimore
520 West Lombard Street
Baltimore, MD 2120I
Wylie Burke, M.D., Ph.D.,
Associate Professor of Medicine
Department of Medicine
Division of General Internal Medicine
University of Washington School of Medicine
4245 Roosevelt Avenue, N.E.
Seattle, WA 98105
Patricia Charache, M.D.
Quality Assurance and Outcomes Assessment
Department of Pathology
Johns Hopkins University Hospital
600 North Wolfe Street
Baltimore, MD 21205
Mary E. Davidson, M.S.W, Executive Director
Alliance of Genetic Support Groups
4301 Connecticut Avenue, N.W, Suite 404
Washington, DC 20008
Elliott D. Hillback, Jr.
Senior Vice President, Corporate Affairs
One Kendall Square
Cambridge, MA 02139
Barbara A. Koenig, Ph.D.
Stanford Center for Biomedical Ethics
701A Welch Road, Suite 1105
Palo Alto, CA 94304
Judith A. Lewis, Ph.D., R.N.
Maternal Child Nursing
Director of Information Technology
School of Nursing
Medical College of Virginia
Virginia Commonwealth University
1220 East Broad Street
Richmond, VA 23298
Victor B. Penchaszadeh, M.D., M.S.PH.
Professor of Pediatrics
Albert Einstein College of Medicine
Chief, Division of Medical Genetics
Department of Pediatrics
Beth Israel Medical Center
First Avenue at 16th Street
New York, NY 10003
Reed V Tuckson, M.D.
Senior Vice President
American Medical Association
515 North State Street
Chicago, IL 60610
Ex Officio Members:
Agency for Health Care Policy and Research
John M. Eisenberg, M.D.
David Lanier, M.D.
Acting Director, Center for Primary Care
Centers for Disease Control and Prevention
Jeffrey P Kaplan, M.D., M.PH.
Muin Khoury, M.D, Ph.D.
Office of Genetics and Disease Prevention
Food and Drug Administration
Jane E. Henney, M.D.
David W. Feigal, Jr., MD., MPH.,
Center for Devices and Radiological Health
Health Care Financing Administration
Nancy-Ann Min DeParle, J.D., M.PH
Jeffrey L. Kang, M.D., M.PH.
Office of Clinical Standards and Quality
Health Resources and Services
Claude Earl Fox, M.D., M.P.H.
Michele Lloyd-Puryear, M.D., Ph.D.
Chief, Genetic Services Branch
Maternal and Child Health Bureau
National Institutes of Health
Harold Varmus, MD
Francis Collins, MD., PhD
National Human Genome Research Institute
Secretary's Advisory Committee on
Office of Recombinant DNA Activities
Office of Science Policy
National Institutes of Health
6000 Executive Boulevard, Suite 302
Bethesda, Maryland 20892
Sarah Carr is the Executive Secretary of the Secretary's Advisory Committee on Genetic Testing and Suzanne M. Goodwin is entering her fourth year at Brandeis University and is studying Genetics, Health, and Society.…
Questia, a part of Gale, Cengage Learning. www.questia.com
Publication information: Article title: Secretary's Advisory Committee on Genetic Testing. Contributors: Carr, Sarah - Author, Goodwin, Suzanne M. - Author. Magazine title: National Forum. Volume: 79. Issue: 3 Publication date: Summer 1999. Page number: 26+. © 1999 Honor Society of Phi Kappa Phi. Provided by ProQuest LLC. All Rights Reserved.