GENOMICS AND PRIMARY CARE
Implementing Pharmacogenomics H
and in hand with efforts to do more genetic screening for con- ditions such as cancer and heart
disease are attempts to implement pharmacogenomics programs in pri- mary care to make sure patients aren’t being adversely impacted by drug- gene interactions. Researchers have found out the hard
way that some medications don’t pro- cess the same in all patients’ livers. Looking at the different ways that ge- netics effect our liver enzymes tells us that our liver might not be able to ef- fectively clear a medication or activate a medication, explains Melissa Mur- fin, PharmD, associate professor and chair of the Department of Physician Assistant Studies at Elon University in North Carolina. “The implications for primary care are that medications for depression and anxiety, and even for opioid pain relief are all processed by different liver enzymes, and if we could know ahead of time that the pa- tient’s liver works differently, we could choose a different drug or address the dosing, so the patient doesn’t have any problems with it.”
Pharmacists tend to have more knowledge about pharmacogenom- ics than physicians, but most primary care groups don’t have a pharmacist in house. So how are health systems ap- proaching the issue? “We developed our own pharmaco- genetic testing in house,” says Cassie Hajek with Sanford Health. “We fo- cused on one specific drug, Plavix. I think that was a nice way to do it, be- cause it was less daunting to have a single test. Plavix is one where there is a great story. We know the gene in- volved in the metabolism of Plavix; we know it doesn’t work great in some people. The ‘so-what’ is that when you use that information pre-emptively and the patient has a catheter and gets a stent placed, they will do a lot better and have fewer complications than when you don’t pre-emptively genotype and change your medication based on that. That is a good cause- and-effect story.” Since Sanford started with Plavix, it has since expanded and now offers a pre-emptive screen that includes a full 8-gene pharmacogenetic panel. “We put the pharmacists in charge,” Hajek says. “We replicated our health system’s
clinical governance and applied it to all the decisions we make in the genomic screening program, and pharmacy is no exception.” A committee looks at all the evidence and whether or not to add new genes to the panel, and that goes through the clinical governance decision-making process. The phar- macists drive that process, review all the pharmacogenetic results and will evaluate the patients on a medication that might be impacted by the results they get back. They review it and reach out to a patient’s physician about how they might use that information. “All pharmacogenetic results are discretely entered in the EHR so we can fire de- cision support off it,” she adds. If my medical record says I am not going to respond appropriately to Plavix, if my prescriber prescribes Plavix, they get a warning.” Sanford is not alone in thinking through this work fl ow. UPMC is ex- pending a lot of effort to develop inte- grated clinical decision support into the EHR, and that is the gold standard for addressing pharmacogenomics, says UPMC’s Mylynda Massart. “At the point of care for prescribing, a physician can have all the information needed to de- termine which medication to use for someone’s genomics. That is the ul- timate goal, and we have a research project where we are working on that at UPMC.”
Geisinger’s Christa Martin says
many health systems are struggling with pharmacogenomics for a couple of reasons: First, most individuals will carry one of those genetic changes that could have a pharmacogenomic effect, so instead of providing ge- netic counseling to 2 or 3 percent of the population, you are talking about almost the entire patient population having a positive result. Another issue is that although we are getting better at data integration and informatics, people still bounce from health system to health system and their health data doesn’t follow them. “Groups are try- ing to identify the most common ones or the ones that have the most medical actionability,” she says. “Pharmacoge- nomics is important, but it is a matter of mechanics and trying to figure out how to get that information into the EHR and use it effectively when pa- tients are prescribed a particular drug.”
provides physicians information about what we need to do now and over the next year,” Martin says. “We have been doing that for many years, and have returned results to more than 1,600 patients. We have worked with primary care providers and specialists to help with that process. We are in a unique situation because the genetics group works very closely with the practices.”
A year ago, Geisinger took another step by launching a pilot in two clinics involv- ing a population health DNA screening test looking at about 60 genes that have been shown to be highly actionable. A
Christa Martin, Ph.D.
third clinic is joining the effort soon. Phy- sicians, including primary care doctors, can order the tests. If a test is positive, genetic counselors talk to the primary care doctors about the level of support they would like. “They are quite happy that our genetics team got in touch with the patients to give them initial informa- tion, so it sort of ended up mimicking what we did in our research project,” Martin explains. “Then the providers got involved in talking to patients about follow-up. We have integrated a lot of the work we are doing with genomics on a population scale with the primary care providers, which I think is quite different from other places where primary care providers might feel like they don’t have that support team to reach out to.” The pilots are getting close to 1,000 individuals having received population heath DNA screening. Although Geis- inger would eventually like to roll it out systemwide, right now “a big barrier to broad testing like that is cost,” Martin says. “But we hope that if the cost comes down over time, we will have had this initial experience and we will be locked and loaded and ready to roll out bigger initiatives. On this pilot we have worked very closely with our Geisinger Health Plan, which has been very supportive of genetic testing.” HI
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hcinnovationgroup.com | NOVEMBER/DECEMBER 2019
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