How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?

Abstract

Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy. Our analysis foregrounds clinicians' role in helping to ensure autonomous decision making as the patient reflects on these clinical options in light of her goals and values. CaseDuring his third-year OB-GYN clerkship in medical school, Samuel is working with Dr. Bowers seeing patients both in the hospital (on the labor and delivery service) and in the outpatient clinic for routine prenatal visits. For the outpatient visits, he sees patients who present for initial appointments to confirm pregnancy and for appointments just prior to delivery.About halfway through his clerkship, Samuel and Dr. Bowers see Mrs. Castle and her husband for an initial visit to confirm a pregnancy. Mrs. Castle is a healthy 41-year-old woman with a strong family history for early-onset Alzheimer's dementia. Her father was diagnosed with Alzheimer's dementia at age 45 and died about five years later. Mrs. Castle's older sister, who is in her late 40s, has also been diagnosed with early-onset Alzheimer's dementia and is currently living in long-term care due to complications of the disease.Mrs. Castle and her husband had tried to conceive for more than a year without success. They had met with a specialist and briefly considered assisted reproductive technology when they put their plans on hold due to Mrs. Castle's sister's illness. The couple thought

The Role of Genetics in Advancing Precision Medicine for Alzheimer’s Disease—A Narrative Review

“…Negative psychological reactions were absent after several months and the testing was perceived to be beneficial. The potential benefits, harms, and dilemmas of genetic testing and impacts on family members were detailed in a case report ( 148 ). If results of risk factors are returned to the participants, counseling needs to be provided and psychosocial support should be made available.…”