You start the day accompanying a physician and medical geneticist on a visit to an in-patient with an unclear diagnosis. You observe the patient and the doctor's exam, and then the three of you walk to your small office to collaboratively develop the diagnosis. You have already conducted the most in-depth interview of the patient and family, including its genetic history, so you end up doing much of the talking, but the final diagnosis is made by the physician.
Next, you meet the first of two pairs of prospective parents. In the first couple, both suffer from major depression and wonder if they should have children. Both members of the second couple have serious learning disabilities. As with many conditions that are only partly under genetic control, you can only provide rough estimates. You present the pros and cons of low-tech options such as adoption and higher-tech ones such as egg or sperm donation.
Next, you meet with a 40-year-old with a family history of heart disease. There's a new genetic test that predicts the likelihood of developing early cardiovascular disease. He worries that if he takes it and the results are positive, he will feel that he's a walking time bomb and that fear will outweigh the benefits of the additional preventive efforts he'd make.
You write reports on those sessions and E-mail them to the patients' physicians. Then you unearth support resources for a patient with Huntington's disease and end the day by meeting with a group of prospective mothers who have had multiple miscarriages, where you present to them and their partners the latest data on risk reduction and answer questions.
