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Hereditary and genetic diseases pose a colossal risk to the population, and many are not routinely screened until symptoms appear.
The Geisinger MyCode program aims to change all that.
"Geisinger has used electronic health records since 1996," said Christa Martin, chief scientific officer. "We were one of the first health systems in the U.S. to move from paper."
Once the transition was made, Geisinger realized that their data banks contained an enormous amount of information that could be used to detect diseases or improve patient outcomes.
"In 2007, we launched the MyCode community health initiative, which our patients and the community have been super supportive of," Martin said. "We have a really high consent rate from our patient population that is in the 70 to 80% range, which is really great for any type of a research program."
The program began with just an assessment of available information from participant's medical records, looking for patterns in disease and severity.
"It really is a way to use a community and health care based biobank to help us understand and treat disease better," Martin said.
"In 2013, a milestone in the MyCode project was reached when we partnered with Regeneron Pharmaceuticals to add DNA sequence information to our MyCode project, and that allows us not only to explore different research related to various health and diseases, but also to now look at the genetic causes for those," she added.
With such sensitive information being offered to the program, Martin wants everyone involved to rest assured that their privacy is of the utmost concern.
"We definitely prioritize keeping that information safe," Martin said. "While we can't protect against everything all the time, we certainly do all that we can to keep that information private and in a controlled environment."
Geisinger patients interested in MyCode can sign up in a number of ways, including through their MyChart account, the MyCode website or by visiting a clinic.
Once consent is given, a simple blood draw is performed. This can be a visit specifically for the program, or can be done at a regularly scheduled visit.
"So for instance, you get a cholesterol test done," Martin said, "when they have that blood drawn, they can also at the same time, obtain an extra two blood vials for the MyCode sample that's needed for participation."
"We've also started using saliva samples, so instead of blood draw, we can use those for enrollment. After that is when all the fun begins and the data is allowed to be used for research purposes," she said.
It is important to remember that this is a broad-based program and, therefore, most participants will not receive personalized data at this point.
"It's about 3 to 4% of the participants enrolled who we now can return information related to their risks," Martin said. "A lot of people just enjoy knowing that their participation can help others in our community."
A small number for now, but that number will grow in the coming years.
"We wholeheartedly expect that number will grow as we add more conditions," Martin said. "We're being pretty conservative in the information that we give back. We have 20,000 genes in our genome. Right now we're only looking at around 80 genes, so we have lots of room to add, but we've done that with purpose so that we're picking the ones that we know could put patients at highest risks."
Once participants' samples are analyzed, those who do receive a report will get one that stays in their medical record. They will also have the option to meet with a genetic counselor to go over the results and discuss risk management options.
And, the bigger the pool of participants, the more likely it is that the research field will grow.
"Known family history covers about half of the population, but the other half, there's no health history, either their own personal history or family history that would give us clues to say 'this patient is high risk and we should test them,'" Martin said.
"We're learning that some of our best clues come from our DNA, and so using a more population health-based approach and just testing all patients for these types of genetic conditions really allows us to identify everybody who might be at risk," she added.
Martin stresses that MyCode is very different from the more commercialized DNA companies such as 23 & Me or Ancestry, in that MyCode aims to improve the health and lives of all, while the others tend to focus on the more recreational side of genetics.
Martin also stresses that there are immediate, clinical tests in existence for chronic conditions that someone may be facing.
"In a lot of research studies, you're never guaranteed results," she said. "Where, in a clinical test, there are turnaround times where you get results, where your physicians look at the results and interpret them to create a treatment plan."
For more information on MyCode, visit www.geisinger.org/precision-health/mycode, or reach out to Geisinger by phone at 844-798-1687.