posted by David H. Ledbetter, Geisinger
on December 15, 2016
Geisinger Health System’s research project to sequence the DNA of volunteer patients is on the verge of becoming a major tool for improving patients’ health. We are getting clinically actionable information to patients sooner, when they can act on it and have better results.
The MyCode Community Health Initiative also is identifying people with inherited conditions that can cause early death from cardiovascular disease. For example, a woman in her early 60s was found to have a variant in the LDL receptor gene associated with high cholesterol and increased risk of early heart attack and stroke – a genetic condition known as Familial Hypercholesterolemia. The discovery through MyCode prompted her to see a cardiologist, who did a comprehensive examination of her heart function and found several blood vessels with significant blockages due to cholesterol build-up. She then had surgery to bypass the blocked regions, greatly decreasing her heart attack risk.
Similarly, a woman in her early 50s with no family history of cancer was found to have a variant of the BRCA2 gene associated with increased risks for breast, ovarian, and pancreatic cancers. A clinical follow up based on her MyCode genomic results found a breast cancer that was not yet invasive, that is, it had not yet affected the surrounding tissue. Women with pre-invasive breast cancer have a 20-year survival greater than 95 percent. Like half of all BRCA gene variant carriers, this woman did not meet criteria for referral to genetic testing. Her variant – and the early cancer that was found because of it – would likely not have been discovered if she were not part of MyCode.
These are just a few examples from a growing number. When the program achieves 250,000 MyCode volunteers – we are at about 125,000 – we will have found between 5,000 and 10,000 patients with known disease-causing gene variants or mutations.
In some cases, this information could lead to lifesaving, curative treatments. That means thousands of people’s lives will be changed for the better – with better health information and better health outcomes.
Because finding a variant in a MyCode patient-participant allows their close relatives to be tested for the same variant and undergo the same risk reduction procedures, the ultimate public health reach of this program could be substantial.
David H. Ledbetter is Executive Vice President & Chief Scientific Officer at Geisinger Health System.