{"id":2174,"date":"2025-09-08T08:22:10","date_gmt":"2025-09-08T08:22:10","guid":{"rendered":"https:\/\/www.newsbeep.com\/il\/2174\/"},"modified":"2025-09-08T08:22:10","modified_gmt":"2025-09-08T08:22:10","slug":"experts-vary-in-responses-to-learning-alzheimers-genetic-risk","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/il\/2174\/","title":{"rendered":"Experts vary in responses to learning Alzheimer\u2019s genetic risk"},"content":{"rendered":"

This week NPR<\/a> published an article describing the reactions of three scientists who learned and subsequently shared their APOE genetic results.\u00a0 What makes this story unique is the way these highly informed people responded to learning their results and their convergent paths of using this knowledge to help advance Alzheimer\u2019s research.<\/p>\n

The three scientists discovered at various points in their life that they were homozygous for the e4 allele of the apolipoprotein E (APOE) gene. APOE codes for a protein that functions primarily to move cholesterol around the body.\u00a0\u00a0 The e4 allele of the APOE gene is also the strongest known risk gene for Alzheimer\u2019s disease.\u00a0 People who carry one or two copies of the e4 allele, also known as heterozygous or homozygous, respectively, have an increased risk of developing dementia due to Alzheimer\u2019s disease.<\/p>\n

One scientist chose to remain anonymous for the story, but turned her initial fear into personal action, making lifestyle changes to reduce her risk and joining a research study.\u00a0 Another used knowledge of his own genetics to inspire his career pursuits, conducting clinical trials in the hopes of one day finding effective treatments.\u00a0 The third, in seeking answers on her own, found her voice through advocacy, pushing for increased federal funding for research.<\/p>\n

Two of the scientists learned their APOE status through direct-to-consumer genetic tests<\/a>.\u00a0 As mentioned in this<\/a> blog, results from these types of tests are generally given without guidance or interpretation, often leaving people with unanswered questions.\u00a0 Genetic testing for Alzheimer\u2019s disease should always be considered carefully and with the guidance of a genetic counselor who can help families determine if testing is appropriate, can contextualize risk, and can help guide interpretation and implications for the individual and their family.<\/p>\n

People who carry one or two e4 alleles are not predestined to get Alzheimer\u2019s disease.\u00a0 There are approximately 75 genes that have been identified as having some impact on risk and even knowledge of all genes cannot be used to predict who will and who will not develop AD.<\/p>\n

Finally, one of the scientist\u2019s desire to remain anonymous stands out. We still do not live in a dementia friendly society. She may have feared job discrimination, insurance loss or other unfair treatment because of her genetic risk.<\/p>\n

To learn more about these issues, join us on October 24th, when we partner with Alzheimer\u2019s Orange County and the Alzheimer\u2019s Association Orange County Chapter to hold our 36th Annual Southern California Alzheimer\u2019s Disease Research Conference<\/a>, which will focus on the contribution of genetics and environment in determining Alzheimer\u2019s disease risk.<\/p>\n

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