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March 12, 1997

The Clinical Introduction of Genetic Testing for Alzheimer DiseaseAn Ethical Perspective

Author Affiliations

From the Center for Biomedical Ethics (Drs Post, Juengst, and Murray), and Departments of Genetics (Dr Zinn) and Epidemiology and Statistics (Dr Binstock), School of Medicine, and Department of Anthropology (Dr Gaines), Case Western Reserve University, Cleveland, Ohio; the Alzheimer Center of University Hospitals of Cleveland (Dr Whitehouse); Department of Neurology, Veterans Affairs Medical Center, Seattle, Wash (Dr Bird); Cleveland Area Chapter, Alzheimer's Disease and Related Disorders Association (Ms Eckert); Department of Neurology, Boston University School of Medicine, Boston, Mass (Dr Farrer); the Center for Ethics and Humanities in the Life Sciences, Michigan State University, East Lansing (Dr Fleck); Alzheimer's Disease Research Program, Riverview Hospital, Port Coquitlam, British Columbia (Dr Karlinsky); Center for Biomedical Ethics, University of Minnesota, Minneapolis (Dr Miles); Department of Philosophy, College of Humanities and Fine Arts, State; University of New York at Albany (Dr Steinbock); the Alzheimer's Disease and Related Disorders Association, Chicago, III (Mr Truschke); Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis (Dr Quaid); Department of Neurology and Neuroscience, New York Hospital-Cornell Medical Center, New York, NY(Dr Relkin); Department of Neurology and Neurobiology, Duke University Medical Center, Durham, NC (Dr Roses); Center for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario (Dr St George-Hyslop); and Department of Medicine, University of Chicago Medical Center, Chicago, III (Dr Sachs).

JAMA. 1997;277(10):832-836. doi:10.1001/jama.1997.03540340066035

Objective.  —Primary caregivers should be aware of recent progress in the genetics of Alzheimer disease (AD) and of the clinical and ethical considerations raised regarding the introduction of genetic testing for purposes of disease prediction and susceptibility (risk) analysis in asymptomatic individuals and diagnosis in patients who present clinically with dementia. This statement addresses arguments for and against clinical genetic testing.

Participants.  —The 20 participants were selected by the investigators (S.G.P., T.H.M., A.B.Z., and P.J.W.) to achieve balance in the areas of genetics, counseling, ethics, and public policy, and to include leadership from related consensus projects. The consensus group met twice in closed meetings and carried on extensive correspondence over 2 years (1995-1997). The project was supported by the National Human Genome Research Institute of the National Institutes of Health.

Evidence.  —All 4 involved chromosomes were discussed in group meetings against a background of information from several focus group sessions with AD-affected families. The focus groups comprised volunteers identified by the Cleveland Area Chapter of the Alzheimer's Disease and Related Disorders Association and represented a variety of ethnic populations.

Consensus Process.  —The first draft was written in April 1996 by the principal investigator (S.G.P.) after the consensus group had met twice. The draft was mailed to all consensus group members 3 times over 6 months for extensive response and redrafting by the principal investigator until all members were satisfied.

Conclusions.  —Except for autosomal dominant early-onset families, genetic testing in asymptomatic individuals is unwarranted. Use of APOEgenetic testing as a diagnostic adjunct in patients already presenting with dementia may prove useful but it remains under investigation. The premature introduction of genetic testing and possible adverse consequences are to be avoided.