Choosing Wisely:

Don’t order apolipoprotein E genetic testing as a predictive test for Alzheimer disease.

Rationale and Comments: Apolipoprotein E is a susceptibility gene for later-onset Alzheimer disease, the most common cause of dementia. The presence of an ε4 allele is neither necessary nor sufficient to cause Alzheimer disease. The relative risk conferred by the ε4 allele is confounded by the presence of other risk alleles, gender, environment, and possibly ethnicity. Apolipoprotein E genotyping for Alzheimer disease risk prediction has limited clinical utility and poor predictive value.
Sponsoring Organizations:
  • American College of Medical Genetics and Genomics
  • Sources:
  • American College of Medical Genetics and Genomics guideline
  • Disciplines:
  • Genetic
  • Neurologic
  • References: • American College of Medical Genetics, American Society of Human Genetics. Statement on the use of apolipoprotein E testing for Alzheimer disease. American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer disease. JAMA. 1995 Nov 22-29;274(20):1627-9.
    • Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeaux R, Bird T; American College of Medical Genetics and the National Society of Genetic Counselors. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011 Jun;13(6):597-605.
    • Alzheimer’s disease genetics fact sheet. Baltimore (MD): National Institute on Aging; 2011 Jun. 8 p. Report No.: 11-6424.

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