Genetic counseling for Apolipoprotein E (APOE), an Alzheimer’s disease risk gene, can help patients understand the implications of genetic testing for themselves and family members. There are multiple reasons patients may seek APOE genetic counseling such as antiamyloid therapy eligibility, a desire to know one’s Alzheimer’s disease risk, and understanding direct-to-consumer testing results. Due to widespread access to APOE testing, it is vital that providers understand how to appropriately counsel patients seeking this service. APOE genetic counseling can differ depending on the individual’s disease status and motivations for testing. Factors such as ancestry, age, and sex also impact risk assessment at an individual level. Recommended topics for discussion include APOE inheritance and alleles, implications of APOE results for patients (benefits and limitations), implications of APOE results for biologically related family members, and possibility for insurance discrimination. Further testing of causative dementia genes may also be indicated based on the patient’s personal or family history.

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APOE and Genetic Counseling for Dementia in Clinical Practice

  • Malia Rumbaugh,
  • Amanda K. Chan

摘要

Genetic counseling for Apolipoprotein E (APOE), an Alzheimer’s disease risk gene, can help patients understand the implications of genetic testing for themselves and family members. There are multiple reasons patients may seek APOE genetic counseling such as antiamyloid therapy eligibility, a desire to know one’s Alzheimer’s disease risk, and understanding direct-to-consumer testing results. Due to widespread access to APOE testing, it is vital that providers understand how to appropriately counsel patients seeking this service. APOE genetic counseling can differ depending on the individual’s disease status and motivations for testing. Factors such as ancestry, age, and sex also impact risk assessment at an individual level. Recommended topics for discussion include APOE inheritance and alleles, implications of APOE results for patients (benefits and limitations), implications of APOE results for biologically related family members, and possibility for insurance discrimination. Further testing of causative dementia genes may also be indicated based on the patient’s personal or family history.