PAs Say Genetics and Genomics Key to Patient Diagnosis and Treatment

Precision Medicine Can Lead to Accurate Treatment and Follow-up

March 4, 2021

By Eileen Denne, CAE, APR

Debra Ryan and DeShana Collett at 2019 Precision Medicine Conference
Debra Ryan, MS, PA-C, and DeShana Collett, PhD, PA-C, at 2019 Precision Medicine Conference

Without incorporating genomic data into care and treatment of patients, educator DeShana Collett, PhD, PA-C, says, “We’re not making true informed decisions. We’re basing our decisions and our treatment on race, ethnicity-based calculators or algorithms which can be detrimental. It can actually increase the risk of having health disparities.”

Precision medicine is an emerging approach to disease treatment and prevention that considers differences in people’s lifestyles, environments, and biological makeup, including genes.

Collett and her colleague Debra Ryan, MS, PA-C, have studied the integration of genomics and genetics in delivery of care to individuals. They attended national precision medicine conferences and Collett took a sabbatical from her position as associate professor at University of Kentucky (UKY) College of Health Sciences PA program to study precision medicine and how to integrate it into medical education. Collett has been a professor at UKY for 13 years and serves 10 to 15 hours per week at a family medicine practice.

Precision medicine, Collett says, “is providing equitable care and treating people as individuals. In the past we’ve applied a lot of population health decision-making. This really takes it to a different individualized level. One size does not fit all.”

Ryan began practicing as a PA in neurosurgery in 2003, but is currently pursuing ways to practice precision medicine as a PA. She offers a personal example of how she used genetic and genomic information to address her own health.

Using genetics to treat migraines
“Early in my career as a neurosurgical PA, I started having migraines,” Ryan says. “I did not want to call in sick or be absent from the operating room due to frequent migraines. I used conventional medications but found that they provided inadequate prevention or relief. Instead of trying to cover up or treat the symptoms of a migraine, I wanted to get to the root cause.”

“I sought help from an internal medicine MD who specialized in functional and anti-aging medicine,” Ryan continues. “We discussed specific hormone testing, food sensitivity and allergy testing, diet patterns, sleep patterns, effects of stress, how to manage stress, and the chemicals I used to clean my home. She came up with solutions that finally freed me from many years of suffering with migraines. I also pursued in-depth genomic and genetic testing that provided better insight into fine-tuning treatment plans and medication choices. The information gathered left me wanting to know more.”

Ryan says she and Collett began discussing aspects of functional medicine practices as well as preventive medicine and genetics. Their discussions eventually lead them to precision medicine and all the ‘omics’ that were being studied, tested, and utilized. They saw the need to educate themselves, their colleagues and PA students.

Hesitancy to adopt precision medicine
Collett cites the lack of familiarity with precision medicine as a reason for its slow adoption. “The challenges that I see – and I even see this in my own family medicine practice – is that most physicians practicing for some time are very hesitant and reluctant to believe in precision or personalized medicine. They’re not completely aware of the science. Medical school doesn’t provide a good foundational background in genetics, genomics, or occupational sciences and how to read that data. Unless you do a specialty, it hasn’t gotten enough attention.”

At all three precision medicine conferences they attended, Collett and Ryan were the only two PAs. “They were almost all PhD MDs and one nurse practitioner. We had some extensive and in-depth discussions around diversity, and why we need research on more people from diverse backgrounds.”

“Once PAs really get a good background, just a decent and brief overview of what’s happening and how it can be beneficial, then they have the ability and the foundation to go talk to patients about why this is important,” Collett says.

All of Us Research Program and precision medicine
The National Institutes of Health’s (NIH) All of Us Research Program, part of the Precision Medicine Initiative, was created to raise awareness about the importance of participation in research. All of Us is looking for individual volunteers over age 18 living in the U.S. to participate in surveys, share access to electronic health records, and visit a partner center to provide physical data. All of Us provides participants an opportunity to break down barriers in medical research, learn about their own health, access their own data, help ensure their community is included in research, and learn about additional research opportunities.

According to All of Us, with the rich set of data anticipated from the program, PAs and other healthcare providers will be able to provide more effective treatment and care for patients, share electronic health records, and gain new knowledge on health disparities.

Collett says All of Us and the Precision Medicine Initiative really started to dig into the issue of participants not being diverse. “If 81% of the genomic-wide association is done on people of European descent, and you say, ‘well let’s apply this across the board to everyone,’ the problem is that it’s not generalizable. Most of these studies take participants from the same area. When you consider how healthcare disparities fit into these populations and patients saying, ‘I don’t have access to medicine or I don’t have transportation to the doctor,’ you realize there are all these barriers. And you’re already starting with this homogeneous population.”

How can genomics help?
Collett describes how genomics can play a role in treatment. “Knowing if a patient is a hyper-metabolizer, knowing if a medication is going right out of their system, and that it isn’t providing pain relief, even short-term pain relief, is so important. If I’m going into surgery as a patient I might ask, ‘how will morphine affect me, or hydrocodone affect me?’ We can really be using genomics and the CPIC guidelines and especially pharmacogenomics and pharmacogenetics. They’re not utilized enough.”

Another example is depression medicine, she adds. “This is something all PAs deal with. We say, ‘we’ll give you this SSRI,’ and we don’t really know how it’s going to impact them. But doing pharmacogenetics or genomics, you can pull out medicine that will work for them. We can pull that information out based on their genes.”

Ryan adds, “I was involved with stroke care as a neurosurgical PA. There are well-studied protocols in place for all stages of stroke care. The precision medicine conference DeShana and I attended discussed the importance of pharmacogenomic testing in all patient care. It is important to take pharmacogenomic testing into consideration when implementing certain medications such as antiplatelet and statin medications utilized in stroke care.”

“We need genetic and genomic information that is well represented by all ethnicities,” Ryan says, “acquired with a well-understood goal of why a person is handing over their unique genetic information and how that can benefit them and humanity as a whole. We can acquire and utilize genomic testing data in a non-threatening beneficial way to bring the world a better way of preventing and recognizing chronic disease or cancer.”

DeShana Collett headshot
DeShana Collett, PhD, PA-C

Educating students and practitioners beneficial
Collett and Ryan stress the importance of educating practitioners and students on precision medicine. Collett describes it as “using precise, individualized care. It’s looking at an individual and asking, ‘what is the best way to treat this person?’ and considering all the genetics, all the genomics and the outside factors that can cause extra variations.”

“We must still be the clinicians we are trained to be and use this medical training to implement and monitor treatment guided by results of genomic testing. We need to understand how genetic and genomic data is generated and interpreted; what AI is and how it relates to algorithms used in machine learning, etc.,” Ryan says. “We have only scratched the surface of genomics, epigenomics, pharmacogenomics, nutrigenomics, and metabolomics. If data/information is presented and accessible in a universal, well-studied, well-respected manner, we will be able to practice medicine in a more efficient and cost-effective way all while preserving our patients’ rights and safety.”

Collett adds, “We need to educate practitioners on what precision medicine is and the benefits it can have for you as a provider, making clinical decisions, and having participatory action between you and your patient. It’s a shared decision-making model where you’re informing them but they’re also letting you know what’s going on. They are participating in their health. It is so, so important.”

Enroll in All of Us Research Program
Individuals who enroll in the All of Us Research Program have options – they can simply answer health surveys, or they can choose to donate DNA samples and electronic health records. As part of the process, participants can access their program information and may learn more about their own health. Collett thinks participants just need to know they are part of something big and meaningful. “What this will do for health and healthcare for us today and beyond is amazing,” she says. “The more people get involved in research programs like All of Us, it really can enhance what we know about these diseases or what people are at increased risk for.”

Learn more about precision medicine
AAPA 2021 will feature a CME session providing an overview of the All of Us Research Program and precision medicine. Be sure to register for AAPA 2021, to be held May 23-27, 2021.

Eileen Denne is director, corporate communications at AAPA. Contact her at [email protected].

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