In 2017, doctors called Ann Murphy to tell her she had a genetic mutation that increased her risk for a dangerous aortic aneurism.
“I was blown away,” she said. “I proceeded to explain to the girl like all the issues that our family has with heart disease and she was like, ‘oh my gosh.’ I said, ‘Too bad you didn’t call me sooner.’”
Murphy had suffered from a massive heart attack in 2016. A year before that, she had given Geisinger permission to use her DNA in its “MyCode” program. At that point, the project was just for research; individual patients weren’t given their results. But scientists found mutations – or variants – in Murphy and many others that indicated they were at higher risk for major health problems.
They began contacting MyCode patients like Murphy, who was glad to have that information. She encourages others have their genomes sequenced too.
“Why not, what do you have to lose?” Murphy says. “You have everything to gain but nothing to lose. They’re not going to find anything? Okay.”
After getting positive feedback from MyCode patients like Murphy, Geisinger decided to integrate genome sequencing into everyday care. Geisinger’s new Clinical DNA Sequencing Program can test patients for dozens of health risks that could be lurking in their genes, all at their routine doctor’s visits.
“We think it can save patients’ lives,” said Dr. Christa Martin, who worked on MyCode as a laboratory geneticist. “And we’ve had enough positive findings from the MyCode project, and positive reactions from the patients of how important this information was, that we’re willing to just test this out.”
Starting July 10, Geisinger is rolling out a 1,000-patient pilot in select locations for its Clinical DNA Sequencing Program. Patients will be offered a blood test, similar to routine bloodwork many Americans have done to identify cholesterol levels and other health indicators.
To Martin, this means more and better preventative healthcare, instead of just reacting when patients get sick.
“A lot of patients may have already had a particular disease,” she said, “but there are also patients who have had no symptoms of disease or could perhaps have cancer at a very early stage that this information allows us to get ahead of and act more proactively.”
Geisinger officials say the cost of the test could be fully offset by catching health issues earlier, or preventing them entirely with lifestyle changes.
But some doctors, researchers and ethicists have expressed worry about genome sequencing as a regular screening. David Kaufman, with the National Human Genome Research Institute, says putting results in context is important.
“There’s always the fear that people may become anxious or depressed or overreact or just misunderstand,” he said.
Having a certain variant isn’t a guarantee a person will develop that health condition, and not having a variant is no promise someone won’t. Kaufman says this complexity is a recipe for confusion for everyone involved, which is why educating patients is critical.
“We want to make sure that when someone is going to get a genomic test done that they don’t just sign a consent form, but that they actually understand the implications of getting that information,” he said.
Kaufman also says it’s important doctors and patients have information and resources to act on these tests.
“Getting the risk data back is the first step,” he said. “You’ve got to make sure you understand it, know what to do with it, make sure that the patients involved have access to the next steps, make sure they take those steps. And many of these cases the next steps will be many years down the road.”
To ensure this all happens, Martin says Geisinger has more than 20 genetic counselors on payroll and is hiring more.
“Genetic counselors are particularly trained in what does this test mean, what does it not mean, what does it tell you, what is it not able to tell you and how are we going to use this information to help you and your family members,” she said.
Relevancy and privacy are two other issues ethicists worry about. Many gene variants only marginally increase a person’s health risks, or are tied to untreatable diseases. Geisinger will only test for 60-80 variants that doctors and patients can take action on.
As far as privacy goes, Geisinger says it will protect patients’ genomic data just like they do all other medical information. Martin says it is not necessarily more revealing than things like family history or other types of screenings.
“People try to make genetics sort of exceptional,” she said, “but really any healthcare you have about yourself can identify risks or things that could preclude you. You know a lot of times it comes up for insurance coverage.”
Federal law protects people who take genetic tests from discrimination by employers and health insurance providers, but that information can be used with other types of insurance, such as life insurance.