Why Genetics Matters for PAs and Patients

Diverse Genetic Data Can Better Inform Patient Care

April 4, 2022

AAPA recently hosted the webinar, “Getting Into Your Genes: Why Genetics Matters to Your Patients,” part one of a three-part Genetics and Genomics CME bundle. Dovetailing with AAPA’s participation in the National Institutes of Health’s (NIH) All of Us Research Program, webinar presenters spoke to how an informed approach to genetics and genomics works to address health disparities.

According to Shanta Whitaker, PhD, MPH, All of Us engagement counselor, the program’s goal is to enlist 1 million participants to volunteer their health data for at least 10 years, with a focus on gathering diverse data from communities previously disenfranchised by medical research. This rich data source is available to researchers and will ideally be used to advance precision medicine research.

How Genetics Impacts PAs’ Diagnoses and Treatments
Nguyen Park, MS, PA-C, president and founder of the Society of PAs in Genetics and Genomics (SPAGG), makes a strong case for why PAs practicing in all specialties should seek out information on patients’ family histories. In many cases, genetics can affect providers’ diagnoses and patients’ prescriptions.

She underscores this point with a reminder to PAs that diseases associated with patient presentations such as seizures, recurrent infections, and congenital heart disease can have genetic causes. Additionally, drug efficacy can vary based on an individual’s ability to metabolize medication, which is influenced by a phenotype. For the 2-15% of people who are poor metabolizers – or the 18-45% who are intermediate metabolizers – commonly prescribed medications like codeine or citalopram may be ineffective.

Park laments these limitations of “one size fits all” medicine uninformed by genetics and genomics. “For those of us who aren’t prescribers, it can be downright frustrating to think that we’re putting all this work into trying to help our patients and it’s not always efficacious.” Prescribing without pharmacogenomic consideration isn’t just unhelpful, it can be dangerous and result in adverse drug events. This may cost patients their time, money, morbidity, and sometimes – in extreme cases – mortality.

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As advances in genetics and genomics have led to more accurate diagnoses and treatments, Park is optimistic about the prospects of precision medicine research. Here, she says, is why All of Us is so important: Gathering data from as many people from different backgrounds as possible will provide insight into different genetic variants and how they affect us. “It’s very difficult to tell whether the variants of unknown significance are going to be benign or are going to be something that is catastrophic for one of us,” she says, and encourages PAs to recommend that their patients get involved.

Watch the webinar, enroll in the two self-paced Genetics and Genomics courses, and check out SPAGG’s resources for PAs to learn more about incorporating genetics into your practice.

Encouraging Patients to Get Involved in Genetic Research
The second part of the webinar featured a panel discussion moderated by AAPA’s Andrea Lowe, MHA, PA-C. Panelists discussed how PAs can encourage patients from diverse backgrounds to consider participating in All of Us and genetic testing more broadly. When engaging in these conversations, PAs should be prepared to mitigate patients’ privacy concerns and speak to the beneficial prospects of genetic testing.

“All of Us is working to earn the trust of communities,” Whitaker says, “and engage them in safe, protected ways,” citing thorough informed consent, confidentiality, and multiple portals where participants can choose what portion of their data to share. Additionally, researchers must undergo ethics training and seek approval from the program before accessing All of Us data. “I think that this is probably one of the best studies in terms of the amount of power that participants have,” Park says.

In addition to conveying this information about All of Us to patients, Park stresses that PAs should be knowledgeable about what genetic testing is available at their institution, how much it costs, and which tests are covered by insurance. Whenever relevant, Park encourages PAs to introduce patients to the benefits of medical research, perform the genetic testing they need, and help interpret their results.

PAs from diverse backgrounds may be especially well-positioned to have these conversations with patients from communities previously excluded from medical research. “I think that when you’re speaking to somebody who looks like you, you have that basic level of comfort. From there, it’s a lot easier to build a foundation when you already have that shared experience,” Park says.

When working with a specific patient community, know which medical conditions community members may be predisposed to or disproportionally afflicted by, suggests panelist Jennifer Reyes, health programs coordinator at the League of United Latin American Citizens. By participating in a program like All of Us, participants can contribute to research that “help[s] future generations understand specific treatments for their communities.”

Panelist Joshua Matacotta, PsyD, CAHIMS, is doing just that by using All of Us data to explore and better understand multimorbidity patterns in people with HIV with the hopes of further comprehending their behavioral health needs. To learn more about using All of Us in your research, check out A Research Community Built for Diverse Discoveries.

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