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In July 2000, the SACGT delivered its first report, which recommended that all new genetic tests be reviewed by the Food and Drug Administration (FDA) before they are used for clinical care or public health purposes, and that the Centers for Disease Control and Prevention extend its efforts to collect genetic testing data.

Genetic Testing: Oversight and Regulation

Genetic testing analyzes chromosomes, genes or gene products to detect mutations that are generally considered to be predictive of certain inheritable diseases, such as cancer, sickle cell anemia, Down syndrome and cystic fibrosis. Currently, inherited gene mutations are thought to contribute to more than 4,000 diseases.

Genetic tests are developed in two ways: manufacturers who wish to package and sell genetic tests as kits to multiple laboratories may develop them under the Food and Drug Administration's (FDA) guidance and clearance process. This requires premarket review that involves an analysis of the device's accuracy, precision or repeatability, and analytical sensitivity and specificity.

However, most new genetic tests are developed by individual laboratories for their own use. While FDA at this time does not regulate these "in-house" or "home brew" laboratory tests, it does require certain controls, such as good manufacturing practices.

The question regarding the need for increased oversight of genetic testing has many significant implications. More oversight should ensure appropriate use and accurate interpretation of genetic tests and may increase the confidence of providers and patients in using the tests.

At the same time, many people worry that more oversight or regulation might slow the development of genetic tests, particularly for rare genetic diseases. In those instances, only a small number of people who are at risk or affected with the disease are available to participate in clinical trials large enough to cull conclusive results.

More oversight also might increase the willingness of health insurers to cover the costs of individual genetic tests if their usefulness can be established. Increased utilization also might increase overall health care costs, however, subsequent acceptance and widespread use of a genetic test may increase demand and thereby lower the cost of each test.

The Role of SACGT

• The SACGT was chartered to advise the department on the medical, scientific, ethical, legal and social issues raised by the development and use of genetic tests. In June 1999, the Assistant Secretary for Health and Surgeon General asked SACGT to assess the adequacy of oversight of genetic tests, to recommend options for additional oversight, and to ensure public access to quality genetic tests.

In July 2000, SACGT issued a report -- Enhancing the Oversight of Genetic Tests -- that recommended that all new genetic tests be reviewed by the FDA before they are used for clinical care or public health purposes. SACGT suggested that FDA pay particular attention to tests that are used to predict diseases in otherwise healthy individuals for which no safe and effective interventions are available. It also suggested that FDA's review be accomplished through new oversight mechanisms that will not limit the development of new tests or inordinately delay their availability. The SACGT also recommended that laboratories that develop a "home-brew" test for their own use and without government research money should be subject to FDA regulations.

In the report, SACGT emphasized the critical role of data gathering and analysis to advancing broader knowledge of genetic tests. It recommended that the CDC, in collaboration with other HHS agencies and public and private sector entities, extend its efforts to collect, share and evaluate genetic testing data. SACGT recommended that the Clinical Laboratory Improvement Amendments (CLIA) regulations be strengthened to enhance quality assurance of genetic testing laboratories.

In addition, SACGT recommended that documentation of informed consent be obtained for certain genetic tests, and that protections should be in place to prevent discrimination in employment and health insurance based on genetic information. The report also calls for legislation to protect the privacy of genetic information and medical information in general. The SACGT report can be found at www4.od.nih.gov/oba/.

Ensuring Quality Assurance of Testing Laboratories

The number of genetic tests performed each year is growing dramatically. A recent survey of genetic testing laboratory directors found that between 1994 and 1996, the total number of tests performed by laboratories grew by at least 30 percent each year, rising from 97,518 in 1994 to 175,314 in 1996. And the rate of increase continues to grow.

CDC and the Health Care Financing Administration (HCFA) implement and enforce the CLIA. CDC sets the standards for laboratory certification and performs laboratory scientific research to enhance the tools used to ensure laboratory quality. HCFA ensures that laboratories providing genetic test results to patients are, in fact, certified under CLIA. Biennially, HCFA or a HCFA contractor conducts on-site inspections to comprehensively evaluate the laboratory's operating environment, personnel, quality control, proficiency testing and quality assurance.

The 1997 Task Force report recommended that CLIA regulations should be augmented to strengthen clinical laboratory practices for genetic tests by requiring specific provisions for quality control, personnel qualifications and responsibilities, patient test management, proficiency testing, quality assurance, confidentiality and informed consent. In 1999, the Clinical Laboratory Improvement Advisory Committee (CLIAC) made specific recommendations for such changes. HCFA and CDC are currently reviewing those recommendations.

Providing Patients with Protection in Research and Clinical Practice Settings

The risk of incorrect test results can be significant. False negative test results can mean delays in diagnosis and treatment. False positive results can lead to follow-up testing and therapeutic interventions that are unnecessary, inappropriate and even potentially harmful.

Many are concerned that test results could cause social harm if the information is used to stigmatize or discriminate against a person. For example, few people reportedly have been denied health insurance; some have lost jobs or promotions, and some have been turned down for adoptions because of their gene status.

These are some of the complex issues on which SACGT is providing guidance as HHS shapes its involvement and regulatory authority in genetic testing to safeguard patients as much as possible, without interfering with scientific advancement.

Enhancing Genetics Knowledge of Health Professionals and the Public

By enhancing information sharing between researchers, HHS assists conscientious health care providers in providing the best science available to their patients. CDC's Human Genome Epidemiology Network (HuGE Net) serves as an important patient protection tool to advance the collection, analysis, dissemination and use of peer-reviewed epidemiologic information on human genes.

The goals of HuGE Net are to:

Establish an information-exchange network that promotes global collaboration in developing and disseminating peer-reviewed epidemiologic genetic information; Develop an updated and accessible knowledge base on the World Wide Web; and Promote the use of this knowledge base by health care providers, researchers, members of industry and government, and the public to make decisions involving the use of genetic tests and services for disease prevention and health promotion.

HRSA has funded many projects to develop information resources for health care providers to aid in translating genetic information and technology into practice and services. In 1998, HRSA started the Genetics in Primary Care: A Faculty Development Initiative, which is a three-year project to develop training programs in genetics which target primary care faculty (i.e. family medicine, internal medicine and pediatrics). The project aims to enhance how faculty incorporate the clinical application of genetic information into undergraduate and graduate primary care medical education. Both NIH and the Agency for Healthcare Research and Quality (AHRQ) co-fund this project.

Additionally, through an interagency collaboration led by CDC, HHS is in the early stages of exploring how voluntary, public-private partnerships might help encourage and facilitate the coordination of data collection on the clinical validity of genetic tests.

NIH has published a booklet, Understanding Gene Testing, that provides basic information and reviews key concepts about genetics and genetic testing. It is available on the Internet at rex.nci.nih.gov/PREV_AND_ERLYDETC/PREVED_MAIN_DOC.html.

Equal Access to Genetic Testing

As with so many scientific achievements, it is important to ensure that patients have equal access to state-of-the-art medical treatment. At HRSA, a new Genetics Services Branch helps to identify individuals who have genetic conditions early on and integrate them into systems of service and care that are accessible, available, affordable, acceptable, population- and community-based, culturally appropriate, and family-centered. It has developed several programs to assist in reaching that goal, including:

• Encouraging the link between state newborn screening programs and other points of early identification of individuals with genetic conditions to systems of care and appropriate treatment interventions through its National Newborn Screening and Genetic Resource Center.

• Supporting the Hemophilia Treatment Centers program as a model for the comprehensive management of a population with special health needs that would include genetic testing, including carrier status, counseling, early identification, intervention, education and coordinated care.

• Facilitating the development of well-prepared health care, social service and public health professionals capable of communicating the benefits, risks and limitations of genetic screening and testing and accurately interpreting and appropriately utilizing genetic information in clinical and public health practice.

Improving the State of Genetic Testing through Rigorous Research

The process of discovering and understanding genetic mutations is extremely complex. Researchers begin by looking for genetic markers -- detectable traits or distinctive segments of DNA inherited along with the gene -- that are consistently inherited by persons with the disease but that are not found in relatives who are disease-free. One method of looking for a gene is to narrow down the target DNA area, identify candidate genes and look for specific mutations.

HHS is funding and participating in several activities to further research in genetic testing:

The Human Genome Project: A Forum for Cutting-Edge Genetic Research

A major international collaborative effort supported in the United States principally by NIH, The Human Genome Project is generating an unprecedented amount of genetic information. This expansion of knowledge will help determine the role of genetics in many common, albeit complex, diseases -- such as heart disease, cancer and diabetes --and may enable the development of more individually tailored medical treatments.

Discovery of Genes for Breast Cancer

Breast cancer research has expanded rapidly at NIH. Promising news first came in 1994 when a team of investigators at the University of Utah, Myriad Genetics and the National Institute of Environmental Health Sciences (NIEHS) identified a breast cancer susceptibility gene (BRCA1) that may account for 5-10 percent of the breast cancers diagnosed each year. The discovery of a second, entirely different breast cancer susceptibility gene, BRCA2, has helped us understand even more about the genetics of breast cancer. While only 5-10 percent of all breast cancers are the result of a currently identifiable inherited anomaly, these findings hold promise for the development of new prevention and treatment strategies.

On October 27, 1996, President Clinton announced $30 million in new funding for research into the genetic basis of breast cancer through a collaborative initiative between the Department of Defense and NIH. A recent initiative under NCI's Cancer Genome Anatomy Project, the Tumor Gene Index, a partnership with academic centers and private companies to compile on the Internet the first comprehensive record of genes involved in human cancer, is identifying and cataloguing genes in the breast that are active in cancer. Additionally, the National Institute for Environmental Health Sciences also has initiated significant research on genes that interact with environmental influences.

Annual Conference on Genetics and Public Health

Sponsored by CDC, HRSA, the National Human Genome Research Institute, and the Association of State and Territorial Health Officials (ASTHO) and affiliates, these annual conferences began in May 1998. The purpose was to address the public health opportunities and challenges presented by advances in human genetics research. The conference agenda was aimed at establishing awareness about the scope and process for integrating advances in human genetics into public health programs and strengthening partnerships for disease prevention and health promotion efforts.

Funding Additional Promising Research

AHRQ also has provided grant money for genetic testing research that could shed light on this complex subject. Some of those research grants include a study on the costs associated with screening for hemachromatosis, a recessive disorder characterized by iron overload in the liver, heart, pancreas, pituitary gland, and joints; a study of various screening issues for children; and an examination of ethical issues that arise in screening programs, using cystic fibrosis screening as a model.

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Note: All HHS press releases, fact sheets and other press materials are available at http://www.hhs.gov/news.