The U.S. Centers for Disease Control and Prevention estimates that nearly 2 million people in the U.S. are at an increased risk for adverse health outcomes because they have genetic mutations that predispose them to one of the following conditions: hereditary breast and ovarian cancer syndrome, Lynch syndrome, and hereditary high cholesterol.
These are three conditions among a total of 27 that Geisinger informs MyCode participants about as a result of the nation’s largest genomic sequencing study. MyCode analyzes the DNA of patient participants to help improve healthcare delivery. The study aims to find ways to diagnose certain conditions earlier and to develop new treatments or management strategies.
The goal is to give every Geisinger patient the opportunity to participate in the study.
“This is an important milestone for us and it’s only the beginning,” David H. Ledbetter, PhD, Geisinger executive vice president and chief scientific officer, said in a press release. “Each and every new participant allows us to perform research that will help us find new ways to anticipate or identify sometimes life-threatening medical conditions early and greatly improve health outcomes.”
MyCode was launched in January 2014 in collaboration with the Regeneron Genetics Center. The program originally set out to recruit 100,000 study participants over five years. Due to overwhelming patient response, that goal has been increased to 250,000.
The growing database from the MyCode project will help to better inform and benefit current and future research, as well as provide Geisinger patients with more personalized healthcare information. So far, some participating Geisinger patients have had cancers detected earlier than normal, the company stated.
The study also helps families learn about their genetic history and offers possible explanations for current medical events, leading to more proactive intervention.
In the past six months, MyCode has prompted important scientific studies, including one titled, “Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease,” published in The New England Journal of Medicine. This study found that people with certain mutations in a gene associated with cholesterol levels were up to 41% less likely to get coronary artery disease. This finding could potentially lead to the development of life-saving new treatments that mimic this mutation’s effect.
For more information on how the program works, visit Geisinger’s MyCode website.