A 38-year-old woman is evaluated by her family physician for recent-onset chorea, irritability, and progressive cognitive decline. Her parents died in a motor vehicle collision when she was a young child, so her detailed family medical history is unknown. Subsequent genetic testing confirms a diagnosis of Huntington disease. During a follow-up visit to discuss the results, the patient states, "Please do not tell my younger sister about this. I know she is undergoing in vitro fertilization next week to start her family, and this news will devastate her. I forbid you from telling her." The patient's 34-year-old biological sister is also an established patient of the same family physician. Two days later, the sister presents to the clinic for a routine pre-procedural physical examination required by her fertility clinic prior to an upcoming embryo transfer. She expresses great excitement about finally becoming pregnant. Which of the following is the most appropriate next step by the physician?
- AInform the younger sister about the diagnosis due to the high risk of transmitting a fatal genetic condition to her future offspring
- BAdvise the younger sister to postpone her embryo transfer and recommend genetic counseling based on new familial medical information
- COrder a targeted genetic test for the Huntington disease mutation as part of the younger sister's routine pre-procedural laboratory workup
- Proceed with the younger sister's pre-procedural examination as requested while separately continuing to encourage the older sister to disclose her diagnosisAnswer
- EContact the medical director of the fertility clinic to anonymously recommend pausing the embryo transfer due to a newly discovered genetic risk