Duke Research: Creating Knowledge. Serving Society

Geoffrey Ginsburg, M.D. Ph.D. is developing new ways to use what we’ve learned about the human genome in medical practice, leading someday to what he and others call personalized medicine. He is director of the Center for Genomic Medicine in the Institute for Genome Sciences and Policy and a Professor of Medicine and Pathology.

What do you mean by personalized medicine?

Personalized medicine is based on the concept that with genomic and other information in hand we can be more precise in detecting disease and treating illness. We can be pro-active rather than reactive when it comes to our health. Specifically, what I mean is using all available information – molecular and clinical – that we can gather on someone in order to better manage their disease or their predisposition to a disease. Personalized medicine aims to achieve the best medical outcomes by taking into account an individual’s genetic profile and their environmental exposures.

How is this information about me going to be used?

Ideally this information will be used only by you and by the other people to whom you give permission to use it, presumably people like your health care providers. Genetic information may tell you about your risk for developing a disease condition in the future and allow you to be proactive in preventing it. It can also be used to assist your doctor in prescribing medications so that you get the right medication for you and your condition.

If insurance companies can see my genome like this, will they be able to disqualify me for a “pre-existing condition” just because they see it in my genes?

This is a complicated question. Obviously we hope the answer is no. And for those of us covered by group health insurance, the answer probably is no. But until we have a comprehensive federal law against genetic discrimination, it’s difficult to be definitive. However, systems are being put in place to put your genetic information in a ‘vault’ such that you will control who has access to that information.

I’ve seen a lot of reports about studies that show our genes don’t determine everything, that there are other things going on because of environmental influences. What about that?

That is very true. A few years ago a terrific science writer named Matt Ridley wrote a book called Nature via Nurture. What he meant was, our genes are not static: they respond to the environment. We will never fully understand our health and what it means to be human unless we consider genes in their environmental contexts. For example, genetic conditions that run in families, such as heart disease, diabetes, and cancer do not always affect everyone in the family – that may be because individuals even with the same genetic background may have different lifestyles and environmental influences that result in their developing a disease condition.

Is this for the big diseases like cancer and heart attacks, or is it just for rare genetic disorders?

I believe that if we do it right, personalized medicine will eventually be applied to every disease with a genetic component, whether it’s genetic disorders like sickle cell anemia and muscular dystrophy or complex diseases like diabetes, cancer, and schizophrenia. Obviously the more genes and environmental factors that are involved, the more complicated the solution becomes. We have a tough road ahead — and a dysfunctional health care system certainly doesn’t help — but I have faith that all of the stakeholders will soon realize (as so many at Duke have done) that it’s in everyone’s best medical, ethical and economic interests to embrace personalized health care. It is the future of medicine and better health care.

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Stuart Pimm’s, research examines species extinction, global patterns of habitat loss, introduced species, and conservation management. When not in Durham, he may be found in the Florida Everglades, the Brazilian rainforest, Capitol Hill or the savannahs of South Africa. Pimm is the Doris Duke Professor of Conservation Ecology in the Nicholas School of Environment and Earth Sciences.

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