By Jeni Miller
To begin shifting from a reactive to a more proactive approach to healthcare, researchers and providers are taking notice of genetic testing and its benefits in making medical decisions.
Currently, there is “very little awareness of the benefits of using genetic tests in this way, but it’s slowly starting to grow,” explains Burns Blaxall, PhD, FACC, FAHA, FISHR, FAPS, executive director of Precision Health at The Christ Hospital Health Network in Cincinnati. “Perhaps part of the reason it’s taken so long is that relatively few people get training in understanding pharmacogenetics. Add to that, pharmaceutical companies used to be not as interested.”
Blaxall shares how research shows that a person’s DNA mutations affect how they process different medications. Rather than using a one-size-fits-all approach, Blaxall advocates for precision medicine, which can use the results of genetic tests to provide a patient with guidance on the right medications. This approach has the potential to reduce emergency department visits, hospitalizations, and healthcare utilization in general.
One example Blaxall gives is that 50% of patients “fail” their first antidepressant, likely because of the person’s pharmacogenome, or how their genes affect the way their body processes the medication.
“There is an enzyme that breaks down most of the antidepressants in the SSRI [selective serotonin reuptake inhibitor] category,” said Blaxall. “But some people overmetabolize it and so won’t get a benefit because it’s broken down so quickly, while others hypometabolize and end up getting a higher exposure from the dose, resulting in serotonin syndrome.”
There is diversity in how patients process medications, Blaxall notes. The trouble is, this information is not well-known enough, including among physicians.
“Not much of it is taught in medical school, and although physicians do receive some pharmacy training in the U.S., pharmacists receive five times that amount of medication training,” Blaxall notes. “In our healthcare system, we tend to underutilize pharmacists. What we need is fully integrated and integrative genetic testing — it’s a Band-Aid on a wound, otherwise.”
But even from a hospital perspective, there is good reason to prioritize optimizing medication management, which can prevent 30-day readmissions and utilization. Using a prediction score called a pharmacogenetic probability score, providers can learn which genes might affect the processing of certain medications, which means potentially avoiding an adverse event that would lead to another hospital admission. Improved outcomes, reduced costs, and prediction of disease risk all can result from calculating this score and adjusting medication management accordingly.
According to Blaxall, a study of retired teachers in Kentucky revealed that of the 30,000 teachers surveyed, each took an average of 15 prescription medications per year.1
“Many people see a primary care physician, then you add in an oncologist, cardiologist, endocrinologist, behavioral health — maybe all these — and if each specialist prescribes two or more medications each, it adds up,” Blaxall says.
The likelihood of collaboration to study that patient and their medication list is quite low — and any communication about that group of medications is not likely to happen, either. Ideally, someone from the care team would take on that task, and Blaxall notes that a pharmacist would be the best one to do that. Case managers largely fill that void and have the option of working with a pharmacist to consult about the patient.
In any event, doing genetic testing to alleviate some of the potential issues caused by taking multiple medicines at a time would do the patients some good. “Since case managers often take on more complex patients who are more likely to be taking multiple medications, the case manager typically has access to the list of medications for which pharmacogenomic testing should be provided,” Blaxall says. “With commercially insured patients that might be more difficult, but just having an awareness of which medications are a good trigger for recommending pharmacogenomic testing and whether insurance will cover it can be helpful.”
To assist, Blaxall recommended that case managers work to maximize their relationship with the pharmacist. In this way, they can help avoid potential issues that might be triggered using multiple medications. They also can provide guidance on which medications might compel the use of genetic testing to help guide a positive outcome.
Case managers are in an ideal position to offer comprehensive care for patients. Looking at the person as a whole and considering every aspect of well-being, they can take a more integrative approach that includes recommendations for medication management.
“The beauty of being a case manager is that you can help people identify issues before they get bad,” Blaxall says. “Knowing that there are specific DNA mutations that affect the way medications are processed or react in the body, case managers can help raise awareness and even bring the pharmacist and physician together to optimize care.”
Case managers also can help assuage patient concerns about their privacy when it comes to genetic and hereditary testing. “Two decades ago, nobody wanted genetic testing done because they thought it would prevent them from getting health insurance,” Blaxall notes.
Blaxall points to the Genetic Information Nondiscrimination Act, which is designed to prevent any kind of healthcare or employment discrimination based on a hereditary finding.2 Case managers can help to inform people about this act to assure them that their genetic testing is not going to affect their ability to obtain and keep health insurance or employment.
Helping patients to see the benefits of genetic testing — both for medication management and for calculating disease risk — often is best handled by sharing a long-term perspective with the patient.
“Asking them, ‘Do you have children? Do you have grandchildren? Wouldn’t they benefit from knowing and gaining preventive care?’ That’s the game-changer for patients 99% of the time,” Blaxall says. “The patient might not want to know about their disease risk, but they usually agree that it would be nice for their children and grandchildren to know. If they can’t take [blood thinner] Plavix, for instance, it’s critical for their kids to know so that they don’t take it.”
It also is important to inform patients that most labs that perform genetic tests will test every blood relative for free if the test turns is positive. “That way, everyone has the opportunity to get proactive healthcare,” Blaxall notes.
Finally, case managers play a part in implementation. “They have valuable face time with physicians, creating an opportunity to help them understand the benefit of genetic testing,” Blaxall explains. “There are new drugs introduced every year, and perhaps having decision support tools embedded in the medical record can help make things easier for the physicians.”
Pointing physicians to resources like CPICpgx.org, which offers guidelines for medications for which they recommend testing, can help get this information into the right hands at the right time. This is the perfect time because, in addition to increasing the quality of patient care, physicians are becoming more susceptible to legal cases involving genetic testing and mutations that were overlooked.
“In one case, there was a person who passed away because they took medication while they had a genetic mutation that rendered it toxic,” Blaxall recalls. “There is a pharmacogenetic test for it, and there is now a legal case showing that a doctor can be sued if they do not do the testing that is indicated.”
In the meantime, the Right Drug Dose Now Act pending in Congress is intended to “[set] out requirements and activities to address adverse drug events, including using pharmacogenomic testing to prevent them.”3 Case managers should keep an eye on this and other cases and share the results with care teams so that everyone can work toward the best care possible for patients.
REFERENCES
- Coriell Life Sciences. The Teachers’ Retirement System of the State of Kentucky Medication Safety Program Case Study. Last updated Dec. 14, 2023. https://www.coriell.com/resour...
- U.S. Equal Employment Opportunity Commission. The Genetic Information Nondiscrimination Act of 2008. May 21, 2008. https://www.eeoc.gov/statutes/...
- 117th Congress. H.R.6875 — Right Drug Dose Now Act. Introduced Feb. 28, 2022. https://www.congress.gov/bill/...
To begin shifting from a reactive to a more proactive approach to healthcare, researchers and providers are taking notice of genetic testing and its benefits in making medical decisions.
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