Doctor Spotlight 2014: Kathleen Leppig, MD

Geneticist Kathleen Leppig, M.D., photographed at Clinical Genetics clinic at Group Health’s Capitol Hill Campus on May 22, 2014

Specialty: Genetics
Hospital affiliation: Group Health

What attracted you to genetics as a specialty?

Genetics crosses every subspecialty in medicine, allowing me to be both a specialist and generalist. In order to understand any disease, you have to understand the genes that are involved and how those interact correctly most of the time and incorrectly other times, causing conditions divergent as autism to cancer. The study of genetics also includes the understanding of cultures, history and population movements. Genetics is part of the map of who we have become as human beings.

What is your focus within genetics?

I was initially trained as a pediatric geneticist and learned to recognize rare pediatric conditions that alter growth and development; work I will forever find rewarding. At Group Health, we provide care for a large population of patients who are at risk for cancer based on their individual and family history. This work allowed me to begin thinking on a different scale—about how you screen a population to identify who is at risk for a genetic condition based on a personal and family history, and how you use that information to prevent or ameliorate disease.

What do you tell your patients who want to use in-home genetics tests?
Buyer beware! The direct-to-consumer (DTC) genetic testing is not as comprehensive as clinical genetic testing provided through a medical genetics specialist. There have been inconsistencies in interpretation of results obtained by different DTC companies. If you are concerned that you have a genetic condition or at risk for a genetic condition, my best advice is to make an appointment with a medical geneticist.

What is the biggest challenge in your field?
One of the greatest issues is helping insurers to understand the utility of genetic testing. If we identify an individual as having a mutation in a specific gene, in many cases we can determine the necessary surveillance and/or treatment for the patient, as well as risk for their family members.