H.T. is a 44-year-old white male hospitalized for impaction. He is mentally retarded and has physical deformities, which have been present since birth. He has one “normal/functional” limb, his right arm, and three abnormal ones (short, clubbed, stiff, drawn in). His family lives far away from town but wants to transfer his care to the outpatient service; they like the care he has received while a patient at the hospital. After examining the patient and seeing his niece, the attending physician begins to wonder whether H.T. has a genetic syndrome. A resident also comments that he has seen other members of the family (nieces, nephews, and siblings) who have a very similar appearance (face, skin, hair, body size, and build). H.T. is currently living with his niece. The plan of care is to stabilize his medications and send him home with a prescription for a laxative and recommend some physical therapy to help him with constipation. The team will also schedule a follow-up appointment at the outpatient clinic. The attending physician comments that this would be an interesting case to publish as a Case Report, and that it might be worth testing the family to identify genes or genetic variants responsible for the condition.
• Should the team bring up the issue of genetic tests for H.T. or possibly family members?
• What are the possible benefi ts and risks of these tests?
• Should the family be tested under the guise of therapy or under a research protocol?
