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Despite the challenges, some experts believe that everything needed to achieve genomics in healthcare and precision medicine already exists, especially when it comes to the data that is needed.
"I would argue we don't have to wait for more data, that it's actually ready for prime time today," Mark Dunnenberger, program director of pharmacogenomics at NorthShore University HealthSystem in Chicago, said during a panel at Health Datapalooza. "We can begin to impact patient outcomes using this data if implemented in an appropriate way."
Some of those impacts, Keith Stewart, director of the Center for Individualized Medicine at the Mayo Clinic in Scottsdale, Ariz., said not only include the elimination of repeat testing but also once those genetic tests are done and the results are in, those results won't change over the course of a person's life. With this knowledge, that person will be able to receive better and more personalized care.
"In my future healthcare there was really not much need to test me again if I come in with a blood clot to see if I'm predisposed genetically [for] cardiomyopathy," Stewart said. "It's already been done."
Dunnenberger added that pharmacogenomics can help providers better understand why one medication may work for one patient but not work for another.
Health IT experts share some examples of how they're making genomics in healthcare happen.
Geisinger Health: Marrying genetic and clinical data
At Geisinger Health System in Danville, Penn., the healthcare organization is working on an initiative called MyCode, although that is currently being rebranded, Jaewon Ryu, chief medical officer at Geisinger Health, said at Health Datapalooza.
"Essentially, it's a genomics program, it's a turnkey program that tries to sign up patients and get their results returned to them with clinically actionable steps for the physician to take," Ryu explained.
He added that to truly achieve this goal, several components are needed to align. The first, he said, is a stable patient population; the second is a patient population that trusts Geisinger; and the third is the ability to actually marry the care delivery aspect with genomics in healthcare.
Mark Dunnenbergerprogram director of pharmacogenomics, NorthShore University HealthSystem
Geisinger's genomics program has been able to consent over 150,000 patients and, by the end of the year, will have sequenced over 100,000 exomes, Ryu said. Geisinger screens for about 80 genetic conditions that "are actually actionable," he said.
Ryu also added that they have been able to collect a rich amount of clinical data in their EHR.
"What's made it really neat is the mirroring of genetic information with the clinical information," he said.
Ryu explained that the health record on any given patient at Geisinger is about 14 years' worth of health data.
"Marry that all together and bringing that all together has been the key," Ryu said. "Much like past discussions [where] we've talked quite a bit about the marrying of clinical and payer data, we're starting to see that with genetic and clinical data."
Ryu said that the changes have been major in how Geisinger now treats patients.
"They don't fall into the general population bucket," Ryu said. "What's been powerful about this is that it has taken preventative medicine and really turned it into anticipatory medicine."
NorthShore's genomic data repository
NorthShore has developed a genomics repository where they can take data from their EHR, internal and external laboratories, bring all that data into one place, normalize it and then associate it with what that data -- including genetic data -- means in terms of a patient's health regardless of where that data came from.
"You're not getting two different answers and clinicians aren't seeing back to back patients with the same genetic variant doing two different things based on that particular variant," Dunnenberger said.
He explained that having this repository allows them to connect genomic data to other data found in many different places. "So back to the medical record to deliver to the clinicians in a way that they can understand it, into those additional applications so we can empower the patient with this data," he said.
The goal with the genomic data repository, Dunnenberger said, is to also push that data in those applications used by patients back into the healthcare organization's systems and to also make it possible for there to be interoperability.
"So that if Mayo [Clinic] came up with a system to do this ... and [one of their patients] came to me, do I have a way to suck that data into my system and then drive those wonderful clinical decision support tools of that patient so they can derive the real value of their genomic results?" he said.
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