THE CLINICAL INTRODUCTION OF GENETIC TESTING FOR ALZHEIMER-DISEASE - AN ETHICAL PERSPECTIVE

Objective.-Primary caregivers should be aware of recent progress in th e genetics of Alzheimer disease (AD) and of the clinical and ethical c onsiderations 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 clinica lly with dementia, This statement addresses arguments for and against clinical genetic testing. Participants.-The 20 participants were selec ted by the investigators (S.G.P., T.H.M., A.B.Z,, and P.J.W.) to achie ve balance in the areas of genetics, counseling, ethics, and public po licy, and to include leadership from related consensus projects. The c onsensus group met twice in closed meetings and carried on extensive c orrespondence over 2 years (1995-1997). The project was supported by t he National Human Genome Research Institute of the National Institutes of Health. Evidence.-All 4 involved chromosomes were discussed in gro up meetings against a background of information from several focus gro up sessions with AD-affected families. The focus groups comprised volu nteers identified by the Cleveland Area Chapter of the Alzheimer's Dis ease and Related Disorders Association and represented a variety of et hnic populations. Consensus Process.-The first draft was written in Ap ril 1996 by the principal investigator (S.G.P.) after the consensus gr oup had met twice. The draft was mailed to all consensus group members 3 times over 6 months for extensive response and redrafting by the pr incipal investigator until all members were satisfied. Conclusions.-Ex cept for autosomal dominant early-onset families, genetic testing in a symptomatic individuals is unwarranted. Use of APOE genetic testing as a diagnostic adjunct in patients already presenting with dementia may prove useful but it remains under investigation. The premature introd uction of genetic testing and possible adverse consequences are to be avoided.