Assessing Genetic Risks Implications for Health and Social Policy (1994) / Chapter Skim
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Pages 1-28
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The ultimate goals of these scientific advances are the treatment, cure, and eventual prevention of genetic disorders, but effective interventions lag behind the ability to detect disease or increased susceptibility to disease. Thus, many genetic services today consist of diagnosis and counseling; effective treatment is rare.
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Consequently, there must be a significant increase in genetics education, both in the medical curriculum and for all Americans. Finally, there will be a need for centralized oversight to ensure that new genetic tests are accurate and effective, that they are performed and interpreted with close to "zero-error" tolerance, and that the results of genetic testing are not used to discriminate against individuals in employment or health insurance.
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The Committee on Assessing Genetic Risks hopes that this report will be widely read, not only by various health professionals interested in genetics and preventive medicine, but by a wide-ranging audience who makes and influences public~policy in the United States, including members of genetic support groups and the public. The establishment of the Ethical, Legal, and Social Implications (ELSI)
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Genetic counseling refers to the communication process by which individuals and their family members are given information about the nature, recurrence risk, burden, risks and benefits of tests, and meaning of test results, including reproductive options of a genetic condition, as well as counseling and support concerning the implications of such genetic information. Newborn Screening At the present time, there are 10 genetic conditions for which some states screen newborns, although the scope of such screening varies by state (see Table 1~.
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To determine clear benefit to the newborn, well-designed and peer-reviewed pilot studies are required to demonstrate the safety and effectiveness of the proposed screening program. In pilot studies for new population-based newborn screening programs, parents should be informed of the investigational nature of the test and have the opportunity to consent to the participation of their infant.
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, parents should be informed in advance about the benefits and limitations of genetic information, and that this information is not relevant to the health of their child. If they ask for the results of the incidentally determined carrier status for their own reproductive planning, it should be communicated to them in the context of genetic counseling, and they should be informed that misattributed paternity could be revealed.
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Usually, the partner will be found not to be a cattier; however, if both partners are carriers, they should be referred for genetic counseling to help them understand available reproductive options, including the possibility of abortion of an affected fetus identified through prenatal diagnosis. Prenatal Diagnosis Anyone considering prenatal diagnosis must be fully informed about the risks and benefits of both the testing procedure and the possible outcomes, as well as alternative options that might be available.
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It was the consensus of this committee that prenatal diagnosis should only be offered for the diagnosis of genetic disorders and birth defects. A family history of a diagnosable genetic disorder warrants the offering of prenatal diagnosis, regardless of maternal age, as does determination of carrier status in both parents of an autosomal recessive disorder for which prenatal diagnosis is available.
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The committee recommends that the predictive value of genetic tests be thoroughly validated in prospective studies of sufficient size and statistical power before their widespread application. Since there will be a considerable time lag before the appearance of confirmatory symptoms, these studies will require support for long periods of time (see Chapter 3~.
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Research should be undertaken to determine the appropriate age for testing and screening for genetic disorders, both to maximize the benefits of therapeutic intervention and to avoid the possibility of generating genetic information about a child when there is no likely benefit and there is possibility of harm to the child. LABORATORY ISSUES IN GENETIC TESTING The committee's review of laboratory issues in genetic testing included a workshop with the nation's experts in laboratory quality assurance in genetic testing and meetings with federal officials responsible for implementing federal reg
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The committee is concerned that the regulatory burden not impede further development of tests or the offering of genetic testing services by laboratories; nevertheless, the committee believes that the nature of genetic tests and their interpretation, and the magnitude of the personal and clinical decisions that may be made based on those results including the abortion of affected fetuses warrant a standard with close to "zero" chance of error for such tests. Consequently, laboratories and personnel performing these tests should participate in proficiency testing programs, including review of the interpretation provided by the laboratory to referring physicians.
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With its informatics and data base capabilities, the Special Information Services Program of the National Library of Medicine might also maintain a data base of centralized laboratories performing tests for rare disorders, as well as genetic counseling centers and support groups, which should be available to laboratories, providers, and consumers at no charge. CLIA88 The committee recommends that most genetic tests be classified as "high complexity" under CLIA88, primarily to ensure the highest level of federal oversight of laboratories performing genetic tests.
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All genetic tests should either be designated as investigational devices subject to IRB approval and FDA regulation be submitted to the FDA for full premarket approval. An Advisory Panel on Genetic Test Devices to the FDA should be established to ensure appropriate expert review for genetic testing products.
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And since manufacturers may be unwilling to go through premarket approval of tests for rare diseases, Congress should also consider the need for legislation in the spirit of the Orphan Drug Act that would give manufacturers an incentive to develop diagnostic medical devices for genetic tests of limited marketability. GENETIC COUNSELING Genetic counseling and education must be an integral part of genetic testing.
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Nondirectiveness should always remain the standard of care for reproductive planning and decisions, and full informed consent before genetic testing will continue to be essential. Since genetics education and counseling are likely to be provided increasingly by primary care practitioners, these practitioners will need training to help them perform these functions appropriately and to know when to refer patients to specialized genetics personnel.
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Should a counselor anticipate a professional or personal need to disclose genetic information to a party other than the patient with whom he or she is consulting, then the potential for that disclosure should be addressed before any genetic testing services are rendered. Tailoring Counseling to the Client Research on the best ways to provide essential genetics education and counseling by a variety of providers in a variety of settings must precede efforts to streamline genetic counseling (see Chapters 6 and 91.
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enhancing consumers' knowledge and ability to make informed decisions in either seeking or accepting genetic tests; (4) establishing systems for designing, implementing, and maintaining community-based genetics education among population groups at higher risk of particular genetic disorders (e.g., increased risk related to race or ethnicity)
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PROFESSIONAL EDUCATION The committee sees no prospect, in the foreseeable future, of having enough highly specialized genetics personnel to handle all genetic testing, including essential genetics education and genetic counseling. Therefore, policy discussion
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Of particular importance is training to deal with the sensitivities of genetics education and counseling, including the need for nondirectiveness, in counseling about reproductive options and about disorders for which no treatment exists. Expanded undergraduate and graduate training of nurses in genetics, genetics education, and genetic counseling is also needed, along with the training of social workers in the special requirements of genetics education and counseling.
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They may fear that the genetic information they sought might be used to evaluate and deny their future applications for health or life insurance coverage, or lead to higher premiums or limited coverage. And, because so much coverage in the United States is employment based, people may also worry that their employer will have access to the information and use it (overtly or covertly)
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In addition, the insurance concept of what is considered medically necessary (and therefore reimbursable) should be expanded to include the offering of appropriate genetic testing and related education and counseling, making these genetic services reimbursable under health insurance plans.
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In addition, since people will be facing the possibility of undergoing many more genetic tests in their lifetimes, the disclosure of information to parents about newborn screening prior to the event can be an important tool for education about genetics. Informed Consent Obtaining informed consent should be the method of ensuring that genetic testing is voluntary.
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Patients should be encouraged and aided in sharing appropriate genetic information with spouses and relatives. To facilitate the disclosure of relevant genetic information to family members, accurate and balanced materials should be developed to assist individuals in informing their families, and in providing access to further information, as well as access to testing if relatives should choose to be tested.
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As health insurance reform proposals are developed, those concerned with genetic disorders will need to assess whether they adequately protect genetic information and persons with genetic disorders from health insurance discrimination and discrimination in the provision of medical services (see Chapters 7 and 81. Genetic Discrimination in Employment Legislation should be adopted that forbids employers to collect genetic information on prospective or current employees unless it is clearly job related.
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Policy Oversight The committee strongly believes that effective oversight will be essential as genetic testing develops to ensure that genetic tests are validated and used appropriately, with respect for the potential harms such testing may pose. For effective overall and continuing policy oversight, the majority of the committee recommends the creation of a broadly representative National Advisory Committee and Working Group on Genetic Testing to oversee professional practices and determine when new genetic tests are ready for wide-scale use in medical practice (see Chapters 1 and 91.
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This is especially significant where there is no treatment available for the disorders, as will often be the case in the near future. In developing requests for proposals and requests for applications and in reviewing research, demonstration projects, pilot studies, clinical trials, and family studies in genetics, funding agencies should pay particular attention to psychosocial issues and should assess the availability of appropriate genetic counseling and follow-up services as elements of study design.
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Innovative methods are needed to group tests by related types of disorders that raise similar issues (including the availability of effective treatment and how soon treatment needs to be instituted) , as a basis for appropriate education, informed consent, and genetic counseling.
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28 ASSESSING GENETIC RISKS · pilot studies of new tests before wide-scale introduction; · cost-effectiveness analysis of genetic testing; · critical deficiencies in data on genetic services; · research on~population distribution and heterogeneity of traits involved in genetic or genetically influenced disease; and · assessment of what has been learned thus far from ELSI research and policy studies.
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