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Promoting safe and effective genetic tests in the United States: work of the task force on genetic testing.

The Task Force on Genetic Testing was created to review genetic testing in the United States and, when necessary, to make recommendations to ensure the development of safe and effective genetic tests. A survey to explore the state of genetic testing was undertaken for the Task Force and completed in early 1995. The survey, as well as literature reports and other information collected for the Task Force, showed problems affecting safety and effectiveness, as defined by the Task Force: validity and utility of predictive tests, laboratory quality, and appropriate use by healthcare providers and consumers. On the basis of these findings, the Task Force made several recommendations to ensure safe and effective genetic testing. The Secretary of Health and Human Services followed up one recommendation by creating the Secretary's Advisory Committee on Genetic Testing. One of its functions will be to implement other recommendations of the Task Force.

Genetic Techniques↗

Genetic testing: a conceptual exploration.

This paper attempts to explore a number of conceptual issues surrounding genetic testing. It looks at the meaning of the terms, genetic information and genetic testing in relation to the definition set out by the Advisory Committee on Genetic Testing in the UK, and by the Task Force on Genetic Testing in the USA. It argues that the special arrangements that may be required for the regulation of genetic tests should not be determined by reference to the nature or technology of the test, but by considering those morally relevant features that justify regulation. Failure to do so will lead to the regulation of genetic tests that need not be regulated, and would fail to cover other tests which should be regulated. The paper also argues that there is little in the nature of the properties of gene tests, using DNA or chromosomes, that in itself justifies a special approach.

Advisory Committees↗

Quality assurance in human molecular genetics testing: status and recommendations.

OBJECTIVE: The role of genetic testing has expanded with rapidly developing technology and completion of the International Human Genome Project. Development of universally acceptable quality control methods and quality assurance standards trails technology. The principle that high-quality genetic testing is important for public health motivated the Centers for Disease Control and Prevention to formulate ways for improving quality assurance of human molecular genetics testing. PARTICIPANTS: Twenty-eight panelists were chosen based on expertise in molecular genetics testing and knowledge of quality assurance practices. Representatives of professional organizations, industries, and federal agencies participated in one or more of 3 panel meetings. Consensus recommendations were developed by the 15 panelists in the third meeting. EVIDENCE: Evidence was derived from experts' opinion during 3 panel meetings. Data compiled through laboratory visits and literature review were used as reference information. Need for this project was derived from the Final Report of the Task Force on Genetic Testing, produced by the National Institutes of Health and the Department of Energy in 1997, and the Summary Report of the Subcommittee Meeting on Genetics of the Clinical Laboratory Improvement Act Advisory Committee in 1997. CONSENSUS PROCESS: Research and development needs were identified using a participatory visioning approach. A modified nominal group process was used to reach consensus. CONCLUSIONS: Five core consensus recommendations were made: research for developing positive samples for quality assurance purposes, performance evaluation programs supplementing those in existence, establishment and support of laboratory-oriented consortia, establishment of a laboratory-focused database, and support of molecular genetics training programs.

Centers for Disease Control and Prevention, U.S.↗

Ethical issues and policy analysis for genetic testing: Huntington's disease as a paradigm for diseases with a late onset.

This paper discusses the main ethical issues that arise when testing for genetic diseases with a late adult onset, such as Huntington's disease, take place. It is imperative to study genetic testing for HD and similar diseases because of the potential to influence future medical advances and the growing number of individuals who are considered pre-symptomatic. The main ethical issues are consent and privacy, prenatal testing and its implications, in addition to insurance discrimination. These issues are viewed from the perspective of genetic counselors, patients, the families of patients, and insurance companies. Policies put forth by the United States National Society of Genetic Counselors ("NSGC"), the Task Force on Genetic Testing, and the President's Council for Bioethics are also analyzed. Finally, new recommendations are proposed in order to ameliorate the ethical dilemmas encountered in genetic testing. These recommendations are largely based on existing policies and therefore involve amending current policies rather than revamping them.

Abortion, Eugenic↗

Informed consent for BRCA1 and BRCA2 testing.

While the cloning of BRCA1 and BRCA2 in 1994 and 1995 engendered great enthusiasm from cancer patients, their families and physicians, concerns about potential problems faced by those undergoing genetic testing were also evident. Although much can be learned from previous research on informed consent for testing and research for predictive genetic testing in diseases other than cancer, there are some specific issues related to cancer that make the questions more pressing, more difficult, and of larger social concern. Organizations such as the National Advisory Council for Human Genome Research, the American Society for Human Genetics, the American Society of Clinical Oncology and the Task Force for Genetic Testing have presented recommendations about informed consent for cancer susceptibility testing. However, many unanswered questions remain concerning the informed consent process. This review provides background on informed consent, summarizes studies that have been conducted in the area of genetic testing, with a focus on testing for BRCA1 and BRCA2, and details recommendations for achieving informed consent for genetic testing for cancer susceptibility and research on cancer genetics.

Breast Neoplasms↗

Closing the gaps in genetics legislation and policy: a report by the new york state task force on life and the law.

The New York State Task Force on Life and the Law, a state bioethical policy commission, recently completed a project addressing the ethical, legal, and social concerns surrounding the predictive uses of genetic testing. Its report, Genetic Testing and Screening in the Age of Genomic Medicine, makes legislative, public policy, and practice recommendations on a host of issues. As part of this project, the Task Force reviewed the current policy and legislative landscapes related to confidentiality protections for genetic information and the use of genetic information by insurers. It also assessed requirements for informed consent to clinical genetic testing and for the use of clinical samples for genetics research. The Task Force considered gaps and unintended consequences of relevant genetic testing legislation and assessed its flexibility to address new uses of genetic testing, such as pharmacogenetic testing, and new ways of offering tests, such as multiplex testing panels. The Task Force also considered the relevance of the pleiotropic characteristic of genes for issues of informed consent to genetic testing and the confidentiality of genetic information. The Task Force's recommendations, presented here, seek to promote the appropriate uses of clinical genetic testing and research while preventing potential harms.

Bioethics↗

Proposal: a position for the insurance industry on genetic testing.

Proposed legislation to limit the use of genetic test results in insurance underwriting has appeared with increasing frequency at the state and federal level. The proponents seek to protect consumers from unfair discrimination by insurers. Can we not develop a proactive approach, acknowledging that we do not need to do prospective testing while we assert that we must retain the current status of equivalency of information between the underwriter and the applicant?

Genetic Testing↗