Molecular genetics will soon be part of routine clinical practice. While most genetic screening currently performed for cardiovascular disease is done as part of a research protocol, many diseases, such as the familiar cardiomyopathies or those associated with the long Q-T syndrome, will soon enter the realm of routine genetic screening and diagnosis. It is estimated that less than 5 to 10 percent of cardiologists have any understanding of genetic testing and that even fewer are capable of interpreting the results of genetic testing. It is well recognized that there are too few genetic counselors and medical geneticists to meet present demands, let alone the demands within a few years, following the exposition of the human genome.33 It was realized from the very beginning of the Human Genome Project that, in parallel with the scientific effort, there had to be a formal initiative to plan for the ethical, legal, and societal implications (ELSI) of this new paradigm. The National Institutes of Health have allocated 5 percent of the budget of the Human Genome Project for ELSI and the U.S. Department of Energy has allocated 3 percent of the HGP budget. A detailed review of the Human Genome Project and the ELSI have been prepared by the U.S. Department of Energy and the Human Genome Project and made available on the internet (0+ ;B;http://www. ornl.gov/hgmis/tko/index. html).
The working group for ELSI developed an agenda with the following main goals: (1) stimulate research on issues through grant making; (2) refine the research agenda through workshops, commissioned papers, and invited lectures; (3) solicit public input; (4) provide massive education through multiple media, including the internet; and (5) encourage international collaboration. A major objective would be to develop policies regarding professional, institutional, governmental, and societal levels to ensure that genetic information would be used to maximize benefit to individuals and society. Three issues were identified as particularly important: privacy of genetic information, safety and efficacy of new testing options, and fairness in the use of genetic information.
The Hereditary Susceptibility Working Group of the National Action Plan on Breast Cancer (NAPBC), coordinated by the Public Health Service Office on Women's Health, recently joined with the National Institutes of Health/Department of Energy ELSI group to address the issue of genetic information in the workplace. The working group recommendations are as follows:
1. Employment organizations should be prohibited from using genetic information to affect the hiring of an individual or to affect the terms, conditions, privileges, benefits, or termination of employment unless the employment organization can prove that this information is job related and consistent with business necessity.
2. Employment organizations should be prohibited from using genetic information or requiring collection or disclosure of genetic information prior to a conditional offer of employment, and, under all other circumstances, employment organizations should be prohibited from requesting or requiring collection or disclosure of genetic information unless the employment organization can prove that this information is job related and consistent with business necessity, or otherwise mandated by law. Written and informed consent should be required for each request, collection, or disclosure.
3. Employment organizations should be restricted from access to genetic information contained in medical records released by individuals as a condition of employment, in claims filed for reimbursement of health care costs, and other sources.
4. Employment organizations should be prohibited from releasing genetic information without prior written authorization of the individual. Written authorization should be required for each disclosure and include to whom the disclosure will be made.
5. Violators of these provisions should be subject to strong enforcement mechanisms, including a private right of action.
6. The task force recommends genetic testing be made available to individuals in the context of clinical investigation and research; however, the information obtained must remain available only to the patient, physician, and investigator. Information must not be made available to any other party or individual.
In regard to genetic diagnosis and screening, there is as yet no consensus on who should undergo genetic testing, how to protect the privacy of the results, or how this information should be applied in the routine practice of medicine. Most genetic testing in cardiology at present is performed as part of research and as such is regulated by Recombinant Regulatory Committee (RRC) and the local institutional review board. In a recent Bethesda, Maryland, conference of the American College of Cardiology on Bioethics and Molecular Genetics,33 there was a consensus that certain rules must be followed in the routine use of genetic testing: (1) informed written consent must be obtained prior to obtaining the sample; (2) every effort should be made to provide the necessary education in terms understandable to the concerned individual, and (3) genetic testing must not be performed unless accompanied with counseling. The Bethesda conference offered the following guidelines, recognizing that they will continue to evolve and are as yet not definitive:34
1. The use of genetic testing and diagnosis as a research tool should continue along the guidelines outlined for research.
2. Genetic testing (usually prenatal) for devastating fetal disease or early-onset disease, such as Down's syndrome, is performed routinely and should be continued. It has been shown that, if the results are positive, whether the parents seek an abortion or not, the information provided is considered beneficial.
3. Use of genetic testing in someone with a phenotype to confirm or exclude a genetic cause should be permitted. An example would be FHCM with concomitant hypertension.
4. In families with a known history of a familial disease, genetic testing when sought by a family member should be performed. Testing of other members of the family should be performed only at their request.
5. Testing at birth or during childhood for asymptomatic disorders that develop later in life remains investigational until more data are available.
It has been customary not to perform genetic screening in high school students unless there is an immediate medical benefit. However, recent studies35 from Montreal and Hong Kong show that genetic screening during high schoool has successfully decreased the incidence of Tay-Sachs disease and ^-thalassemia. A major issue associated with the cardiovascular disorder FHCM, the most common cause of sudden death in the young, particularly in the athlete, is whether athletes at the high school and college level with a family history or suspected HCM phenotype should be screened prior to participating in competitive sports.36
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