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The Clinical Introduction of Genetic Testing for Alzheimer Disease An Ethical Perspective

Stephen G. Post, PhD; Peter J. Whitehouse, MD, PhD; Robert H. Binstock, PhD; Thomas D. Bird, MD; Sharen K. Eckert, MS; Lindsay A. Farrer, PhD; Leonard M. Fleck, PhD; Atwood D. Gaines, PhD, MPH; Eric T. Juengst, PhD; Harry Karlinsky, MD; Steven Miles, MD; Thomas H. Murray, PhD; Kimberly A. Quaid, PhD; Norman R. Relkin, MD, PhD; Allen D. Roses, MD; P. H. George-Hyslop, MD; Greg A. Sachs, MD; Bonnie Steinbock, PhD; Edward F. Truschke; Arthur B. Zinn, MD, PhD
JAMA. 1997;277(10):832-836. doi:10.1001/jama.1997.03540340066035.
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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.


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