Fast Five Quiz: Alzheimer's Disease Workup

Jasvinder P. Chawla, MD, MBA


February 22, 2022

Health care providers have approached genetic testing with caution in the past. Many worried that results which identified increased risk could prompt an unduly negative psychologic response in otherwise asymptomatic individuals. However, in a 2009 trial that explored the effect of disclosing APOE genotyping results in 162 asymptomatic adults with a family history of AD, follow-up testing revealed no significant differences with disclosure vs nondisclosure on time-averaged measures of anxiety, depression, or test-related distress.

According to guidelines from the American College of Medical Genetics and the National Society of Genetic Counselors, testing for the APP and PSEN genes associated with early-onset autosomal-dominant AD should be offered in these clinical scenarios:

  • In symptomatic patients with early-onset AD who have either a family history of dementia or an unknown family history (eg, because of adoption)

  • In patients with a family history of autosomal-dominant dementia including one or more cases of early-onset AD

  • In relatives of patients with a mutation consistent with early-onset AD (PS-1, PS-2, APP)

Learn more about genetic testing in AD.

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