American College of Medical Genetics and Genomics

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Released July 10, 2015; sources updated September 15, 2016

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

APOE is a susceptibility gene for later-onset Alzheimer disease (AD), the most common cause of dementia. The presence of an ε4 allele is neither necessary nor sufficient to cause AD. The relative risk conferred by the ε4 allele is confounded by the presence of other risk alleles, gender, environment and possibly ethnicity. APOE genotyping for AD risk prediction has limited clinical utility and poor predictive value.


The items on the ACMG list are provided solely for informational purposes and are not intended as a substitute for consultation with a medical professional. In determining the propriety of any specific procedure or test, patients should consult with their individual providers and providers should apply their own professional judgment to the specific clinical circumstances presented by each individual patient.

How The List Was Created

The American College of Medical Genetics and Genomics (ACMG) list relies on input from a number of committees in developing clinical practice guidelines and laboratory technical standards and guidelines. For the Choosing Wisely® campaign, input from the Laboratory Quality Assurance Committee, Professional Practice and Guidelines Committee and Therapeutics Committee was solicited. A list of 18 items was reviewed by the ACMG Board of Directors and the five items currently thought to most likely improve quality and reduce waste related to genetic testing were selected. The recommended list was approved by the ACMG Board of Directors, March 24, 2015.

For the ACMG’s disclosure and conflict of interest policy, please visit www.acmg.net.

Sources

Alzheimer’s disease genetics fact sheet. Baltimore (MD): National Institute on Aging; 2011 Jun. 8 p. Report No.: 11-6424

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.