Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

Jill S. Goldman, Susan E. Hahn, Jennifer Williamson Catania, Susan Larusse-Eckert, Melissa Barber Butson, Malia Rumbaugh, Michelle N. Strecker, J. Scott Roberts, Wylie Burke, Richard Mayeux, Thomas Bird

Research output: Contribution to journalArticle

163 Scopus citations

Abstract

Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.

Original languageEnglish (US)
Pages (from-to)597-605
Number of pages9
JournalGenetics in Medicine
Volume13
Issue number6
DOIs
StatePublished - Jun 2011

Keywords

  • Alzheimer disease
  • dementia
  • genetic counseling
  • genetic testing
  • guideline

ASJC Scopus subject areas

  • Genetics(clinical)

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    Goldman, J. S., Hahn, S. E., Catania, J. W., Larusse-Eckert, S., Butson, M. B., Rumbaugh, M., Strecker, M. N., Roberts, J. S., Burke, W., Mayeux, R., & Bird, T. (2011). Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine, 13(6), 597-605. https://doi.org/10.1097/GIM.0b013e31821d69b8