Standard screening tests such as colonoscopy, mammography, and cholesterol measurement are fine for individuals at average risk for cancer and heart disease but are inadequate for people whose genetic profiles put them at much higher risk. Current clinical guidelines fail to identify about half of the high-risk individuals in the population. For those individuals, we need a different approach that accurately forecasts their risk and anticipates their health needs. Geisinger Health has launched a DNA sequencing project with the potential to identify virtually everyone in its patient population who is at increased risk for early onset, inherited cancer and cardiac events. Already the projects has identified more than 500 patients who are at increased risk for disease and has uncovered previously undetected cases of cancer and heart disease.
Standard screening tests such as colonoscopy, mammography, and cholesterol measurement are fine for individuals at average risk for cancer and heart disease but are inadequate for people whose genetic profiles put them at much higher risk. Current clinical guidelines, based primarily on families large enough to show a positive family history for that condition, fail to identify about half of the high-risk individuals in the population. For those individuals, we need a different approach that accurately forecasts their risk and anticipates their health needs. To this end, Geisinger has launched a DNA sequencing project with the potential to identify virtually everyone in our patient population who is at increased risk for early onset, inherited cancer and cardiac events. Already we have identified more than 500 patients who are at increased risk for disease and have uncovered previously undetected cases of cancer and heart disease, allowing our doctors to treat these much earlier than they could have otherwise.
In our precision health programs, sequencing the known functional parts of the genome for our patients is becoming a clinical reality, not just as a diagnostic test for patients who present with particular symptoms, but for all patients in our community. Understanding their genome’s warning signals is now an essential part of their health forecasting, wellness planning, and health management. As full partners in their own care, they can now work with their physicians to modify lifestyle or behaviors to mitigate the risks that have been revealed, and to anticipate future health needs. This type of forecasting allows us to provide truly anticipatory “health care,” instead of the responsive “sick care” that has long been the health care system’s default.
This success results from the clinical application of our decade-old biobank and genome sequencing effort called the MyCode Community Health Initiative. In that project, we have determined the DNA sequence of the so-called “exome” — the known functional parts of the estimated 20,000 genes in our genome — of over 90,000 Geisinger patients, in partnership with the sequencing research laboratory at Regeneron. This has allowed us to confirm and clinically report DNA variants with a high probability of being harmful. We expect that at least 3% of our patients carry variants that — not just someday, but right now, today — can be used to better forecast their health and influence their care. The clinical report goes directly into their electronic health record at Geisinger and is sent to their primary care physician. Over time, as we sequence the exomes of more and more of our patients and learn even more about particular genome variants and their impact on different health conditions, we predict that as many as 10% to 15% of our patients will benefit.
Our patients have long supported the MyCode research project, volunteering at high rates to have their genomes sequenced with the understanding that the project has the potential to improve their care, and benefit the entire Geisinger population. When we asked them, if we came across clinically meaningful results during study, whether they wanted the results to be reported to them and their doctors, they overwhelmingly said yes. Broad surveys of the general public around the country have indicated that the public at large might embrace similar screening programs at their health systems.
While the impact of this program on our entire community is very real, it is most impressive in the lives of individual patients and their loved ones. For one, being told about her unsuspected genomic findings has truly been, as she put it, life-saving, allowing her doctors to identify a previously undetected early tumor. For another, a patient who had suffered a heart attack much earlier in his life, finding out about his genome’s harmful variant led his physician to prescribe the right medication.
The way we look at it, that’s millions of Geisinger family members who no longer have to rely on the law of averages to forecast their health and make plans about their life and how they live it. For these patients, precision health care reduces uncertainty and allows them to take charge. For clinicians, the technologies help us achieve, finally, what should be the true goal of medicine — keeping our patients well.
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