How would you like to know your chances of developing major health problems like heart disease and cancer, years before you have any signs or symptoms? Some people in our region have already been warned about their potential risks, by an area health system.
With its My Code project, Geisinger Health System is leading the nation in breaking our genetic code.
In a laboratory at Geisinger’s Weis Research Center, blood samples from patients throughout the region are catalogued, and processed with the help of robots. The exomes, part of DNA, that contains disease-related information will be sequenced.
My Code Principal Investigator Andy Faucett says, “all medical conditions are a combination of genetics, environment and lifestyle, and what we’re trying to figure out is what role does genetics play and can we use that to improve people’s health.”
My Code is the largest project in the United States, combining electronic health records with large-scale DNA sequencing data. More than 100,000 Geisinger patients have signed up for it.
Researchers have completed the DNA sequencing of of more than 60,000 people and alerted those whose results show risk for specific diseases.
“We’re looking at 27 different conditions so there’s quite a lot we can help with and in the future we can look at even more,” says My Code Project Manager Carroll Flansburg.
Those conditions include sudden cardiac death, heart muscle diseases, familial high cholesterol, early colon and uterine cancers, and a life -threatening reaction to certain anesthesia drugs.
So far, the genetic markers seen most often? The well known BRCA genes, linked to increased risk of breast and ovarian cancer in women, and prostate cancer in men.
Flansburg says, “we are finding higher incidence of these genes than we expected to find when we looked at the literature and the data, so that’s been pretty exciting, that it may actually be more common than we think it is.”
She says however, that researchers believe the higher than expected incidence of the BRCA gene may change when the study expands to people from more diverse population groups.
Faucett mentions another surprise from the data that has researchers intrigued. “We’re finding some of those individuals who seem to not have a disease that their genetics says, maybe they should, that’s a great thing to discover that’s a great thing to research,” he says.
And he explains that while researchers may discover important genetic information about diseases like Alzheimer’s, and Parkinson’s, as well as psychiatric conditions like schizophrenia and bipolar disorder, Geisinger will only inform patients about medical conditions which can be treated.
They’re offered an opportunity to discuss the results with a physician and a genetic counselor and if necessary, a referral to a specialist or a high risk clinic.
“We’re finding a lot of potential gene discoveries. We’re finding a lot of things that aren’t ready for prime time for patients, but are really important for the future of healthcare,” Faucett says.
My Code is a free study open to all Geisinger patients. Click here for more information on signing up.
Geisinger has also been selected for the national Precision Medicine Initiative, which has a goal of 1 million participants.
