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 apoli-poprotein 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.
with the following addendum: We suggest the following considerations in reaffirming this document: 1. To use the phrase "pathogenic variant" rather than the word "mutation" in discussing pathogenic variants related to autosomal dominant early-onset Alzheimer disease. This would be consistent with current ACMG/AMP Guidelines for Variant Interpretation and Reporting 1. 2. Because this document no longer meets the criteria for an evidence-based practice guideline by either the American College of Medical Genetics and Genomics (ACMG) or National Society of Genetic Counselors (NSGC), NSGC reclassified this document as a Practice Resource in 2016, and ACMG is also classifying it as a Practice Resource as of this reaffirmation.
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