Study To Examine Genes and Disease

Researchers at Harvard-affiliate Brigham and Women’s Hospital have launched a hospital-wide longitudinal study that will investigate links between genetic and environmental and lifestyle influences on disease, an effort that may advance personalized diagnosis and treatment for patients.

The initiative—known as “OurGenes, OurHealth, OurCommunity”—aims to enroll more than 100,000 patients and seeks to specify the genetic markers of certain types of diseases.

“The future benefit is that we can tailor therapy to patients based on their individual [health] profile,” said Elizabeth W. Karlson, an associate professor of medicine at the hospital and co-author of the study.

Karlson added genetic information—which patients provide in the form of a blood sample—could reveal key diagnostic cues. The data will, for example, allow physicians to identify patients at risk for drug oversensitivity, which could eliminate unforeseen drug overdoses.

Study participants are also asked to provide researchers with their medical history and information such as smoking habits, vitamin intake, and sun exposure, which together make up what the researchers call “environmental data.”

Certain genes can make individuals more prone to specific types of disease, so the researchers plan to run to analyze their data with a view to seeing how genetic and environmental factors can make an individual more likely to develop a disease, Karlson said.

“For instance, if we know a patient at risk for heart disease, we would look at other risk factors like cholesterol [levels] and smoking [habits],” Karlson said, noting that the data can enable scientists to isolate factors that cause disease.

Organizers plan to eventually incorporate genome sequencing, which they said could provide a more complete picture of a patient’s disease state, into the study.

Moreover, storing patient information in a what Karlson calls a “BioBank” will allow scientists to examine a disease of interest at any given time, a practice that may help advance both research and primary care treatment.

The data will be protected and only accessible to researchers associated with the study.

Of patients approached to participate in the study, 70 percent have agreed to participate, which Karlson said reflects growing excitement in the field and the study’s commitment to ensuring patient privacy.

“People have been waiting for a way to apply the human genome project, and this is the way to do it,” Karlson said.