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– In May 2018, Geisinger Health System announced that it would soon include genomic sequencing in routine clinical care to advance precision medicine and improve patient outcomes.
The goal of the project, Geisinger stated at the time, was to go beyond standard methods of care like cholesterol checks, mammographies, and colonoscopies to identify patients at high risk of certain conditions.
“Originally, we offered genomic sequencing only to certain patient groups, so that we could test people’s perceptions of the test and to make sure everything was running smoothly from an operational standpoint. We picked two of our larger clinics at Geisinger and did a slow launch,” said Christa Martin, PhD, FACMG, director of the Autism & Developmental Medicine Institute at Geisinger.
“Since we launched the project, we’ve tested over 800 patients. We’re getting ready to launch DNA screening in three additional clinics within the next few months, and we’ll be offering it to all patients.”
The health system’s move to integrate genomics and everyday care delivery came several years after the launch of its MyCode Community Health Initiative, a large-scale precision medicine and genome sequencing project that has provided clinically relevant results to patients and providers.
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“The physicians would return results from the research study to their patients and they would see the impact that this had on people, and they started to say, ‘Why does this have to be done as part of a research project? Why can’t we offer this to patients as part of clinical care?’” Martin said.
With the implementation of DNA screening, Geisinger has only added to the amount of pertinent information delivered to patients.
“We’ve found that of all the people we test, about two to four percent will find a genetic change that causes cancer, or heart disease, or another disorder,” Martin said.
As the healthcare industry increasingly aims to provide individualized, targeted treatments, more and more organizations are incorporating genomics and genetic testing into regular clinical care. A 2018 survey from Cardinal Health showed that two-thirds of doctors are currently using genomic testing to inform their treatment decisions, and another 25 percent said they planned to integrate genomics into care routines within the coming year.
What makes Geisinger’s program unique, Martin said, is that clinicians are testing a wide range of genes.
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“There are other programs that are starting to do this, and several are limiting the number of genes that they screen to what’s known as the CDC Tier 1 genomic applications. These are disorders that have been vetted through the CDC, including Lynch syndrome, familial hypercholesterolemia, and breast and ovarian cancer,” she explained.
“We find positives in those genes, but we also find positives in the 57 other genes that we’re screening as part of this panel.”
Screening for a broader number of genes gives Geisinger more opportunities to identify patients and other family members who are at risk for certain conditions, Martin noted.
“We can identify one person who has a genetic variant, but often there are several other family members for generations that can also be tested. This allows us to deliver more predictive, preventative healthcare, rather than reactionary care,” she said.
DNA testing could also help providers identify high-risk patients they may have otherwise not detected using traditional methods.
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“There are guidelines for many of the genes that we’re testing for, particularly for some of the breast cancer genes. If somebody had a family history of breast cancer and they themselves have breast cancer at a young age, there are guidelines that say this person should be offered genetic testing,” Martin said.
“What we’re finding from our study, and others are confirming this as well, is that more than 50 percent of patients who have these genetic changes don’t have that family or personal history that fit those guidelines and warrant testing in a traditional clinical setting.”
While precision medicine and genomics hold a lot of promise for patient care and outcomes, this relatively new area of medicine has also brought new challenges to light. The growing availability and affordability of genetic testing means that more people can uncover the mysteries of their DNA, but there is always the risk that these tests will leave patients with more questions than answers.
Providers may not be fully confident in their ability to reassure or explain genetic testing results to patients, either. A 2017 survey indicated that although the vast majority of patients are interested in genetic testing, providers may not feel prepared to explain hereditary conditions or to deliver informed genetic counseling.
Geisinger is aiming to combat these issues, Martin noted.
“One of the challenges we’ve tried to address up front is the education aspect – what the results mean, both on the patient side and the clinician side,” she said.
“We’ve developed what we call Just in Time documents that doctors can give to their patients, which say, ‘This is the information that we learned about you. This is what you need to do now given this information. This is what you need to monitor over time, and this is what you need to do long term.’ Anticipating the needs of patients and providers as they get this new type of information is important.”
As providers and researchers come to understand more about genomics and genetic testing, they’ll be able to offer patients even more comprehensive information.
“There are variants or changes in these genes that we still need to learn about, so any negative result is sort of a negative for now, because as we learn more we’ll be able to provide more information to our patients,” Martin explained.
“If you think about a mammogram, it could be negative one year and positive the next, because there are new findings. Our DNA doesn’t change like that. With DNA, it’s more about what we’re learning or what new genes we might find that are medically actionable. We’ve tried to make sure that people really understand the results of the screening tests.”
With this genomics screening program, Geisinger will continue to accelerate precision medicine and personalized care for its patients.
“We’ve seen a very positive reaction from people for this type of DNA screening. People want it to be offered in their clinics, or they want to switch to providers that are in our clinic,” Martin said.
“With these screening tests, we can get ahead of disease and monitor patients. We’d rather keep our patients healthy than treat them once they show signs of illness. This type of screening program allows doctors to identify high-risk individuals that they might not otherwise identify through traditional genetic testing models.”
