Genomic medicine

Genomics or gene-related medicine has advanced rapidly over the last decade. According to a new study, the field is shifting from testing rare genetic disorders to the diagnosis of more common chronic diseases like heart disease, diabetes, stroke, osteoporosis and cancer.

Maren Scheuner, a medical geneticist with the non-profit RAND Corporation and lead author of the study, says that these tests can change the way family doctors practice medicine. "There is a shift from diagnosing a condition in a patient that may have signs and symptoms of a disease to now being more predictive and testing people who are otherwise healthy but want to have a sense of what they can do about that risk."

In an attempt to better integrate appropriate tests and therapies into routine medical practice, Scheumer and colleagues analyzed genomic research studies and surveys. She says the findings point to a lack of trained professionals. "There are not many medical geneticists in the country and among those 60 percent feel that there are too few in their geographic area." 

Patients can expect more genetic diagnostic tools to predict their risk for common diseases like cancer, stroke and osteoporosis

Only 5 percent of physicians are trained in adult medicine practices like internal medicine or family practice. The others, she says, "are trained in pediatrics or obstetrics, which is also the focus of their genetics practice."

Scheuner says medical education must integrate genomics into the curriculum. "I think that it would be ideal have some core competencies taught around genetics concepts and it just may take a generation to move these health professionals along." She adds that it is a low priority for most clinicians. "I think that it is a perception that it is not common, and so they don't bother."

The study notes that consumers have concerns about privacy issues and potential discrimination in health insurance and employment based on personal genetic information. But Scheuner says they see value in testing that could help identify risk factors for common chronic diseases.

"Much of what we can do with this information is more on the predictive side and understanding risks and really practicing preventive medicine, which is getting a short shrift all to often I think today."

The study was published in the Journal of the American Medical Association.