practice in health-related matters, Anne extensively reviewed the topic on the Internet and compared the tests offered by several different companies. She is especially concerned about her future risk of diabetes and coronary artery disease, based on her personal and family histories, so she selects the lab that places the greatest emphasis on these conditions on its website.

When Anne returns from vacation, a printed report awaits her. If she understands the report correctly, she is relieved to learn that her risk of type 2 diabetes is 10 percent below that of the general population. On the other hand, her future risk of coronary artery disease is 20 percent above the general population risk. It is unclear from the report if the risks have taken her family or personal histories into account or if the risks were calculated exclusively based on the genomic results. As she continues to read the report, Anne learns that her breast cancer risk is 30 percent above the general population risk and she is dismayed to read that her Alzheimer’s disease risk is double that of the general population. Finally, she is surprised and confused when she reads that she is a carrier for hemochromatosis and alpha-1 antitrypsinase deficiency, two conditions with which she is entirely unfamiliar. She wonders if these findings might explain her recent fatigue.

Anne immediately calls her doctor’s office, but the earliest available appointment is not for two weeks. When she arrives for the appointment she appears to be mildly agitated. She brings a copy of the report and has a two-page list of hand-written questions prepared for her doctor. Here are the questions on the first page:

What is hemochromatosis and alpha-1 antitrypsinase deficiency? Does this explain my fatigue? What other symptoms should I expect? How could I possibly have two rare conditions that I never even heard of before? Does a lab like this ever make mistakes? Do you think I should send a sample to another lab for confirmation of my results?


I remember my obstetrician telling me that my abnormal blood sugar test during pregnancy might increase my later risk for the development of diabetes and now my mother seems to be developing late-onset diabetes. How reassured should I be by the report that says I am at lower risk than the general population for diabetes? I have been watching my sugar intake. Can I relax my diet now?


With my father’s history of an early heart attack I always assumed I might be at increased risk and my test result confirms my suspicions. What should I do about this?


I’m really worried about breast cancer. With a 30 percent increased risk, should I start receiving mammograms earlier than age 40?



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