Pharmacogenomics, also known as PGx, is the use of a patient’s genetic makeup to guide the choice of safer and more effective medications and dosages in daily clinical practice, including primary care. Although it has emerged as an essential, evidence-based tool in the primary care toolkit, its widespread adoption remains slow.
After more than 30 years in family medicine, I’ve seen every major clinical innovation face early skepticism, from electronic medical records to laparoscopic and robotic-assisted surgery. Yet here we are, firmly rooted in astonishing advances in cancer care, rare disease treatment, and new standards in maternal-fetal medicine, all using genetic knowledge to help guide care. The future is clearly here, but questions remain in the minds of primary care physicians about the place for PGx testing.
The Biggest Myths About PGx and Primary Care Medicine and What the Data Really Shows
When I talk to family doctors, internists, and nurse practitioners across the country, they share the same silent doubts: Is pharmacogenomics really relevant to what I do every day? Won’t it take too long? Can my patients afford it or will insurance companies even pay? Much of this hesitancy is due to persistent misconceptions about PGx in primary care, and we must examine the research and evidence that dispels these myths.
Myth #1: “It is not relevant to my practice”
Primary care physicians are well aware that the trial and error approach to prescribing is often frustrating for both patient and practitioner, with huge impacts on outcomes, patient safety, compliance and trust. Some patients metabolize certain medications very quickly, while others metabolize them poorly, leading to increased side effects and intolerance. Statins, SSRIs, analgesics, and proton pump inhibitors are just a few examples of commonly prescribed treatments with well-established gene-drug interactions (DGIs) that influence both tolerability and efficacy.
Below are everyday scenarios in which PGx directly improves routine primary care decisions:
- Behavioral health: Doctors tend to choose SSRIs based on personal preference or experience, but these are among the most common medications influenced by genetics. Using PGx testing early in treatment can dramatically shorten the time to remission and decrease the number of patients labeled as “treatment resistant.”
- Pain management: This is often the thorn in the side of primary care physicians. The opioid crisis and specialists’ reluctance to prescribe place an unfair burden on us, and it is our responsibility to prescribe painkillers effectively and safely. PGx has an important role in determining response to NSAIDs, tramadol, and opioids.
- Polypharmacy and elderly patients: Reducing polypharmacy, falls, and cognitive problems in older patients is an everyday concern in my practice, and PGx helps identify medications that are more or less likely to be tolerated in this vulnerable population.
- Cardiovascular risk and intolerance to statins: Reducing LDL levels to new lows in diabetic and cardiovascular at-risk patients often requires high doses of statins, several of which are influenced by genetics. PGx testing allows doctors to not only choose the best tolerated medication, but also convince patients that they are unlikely to experience side effects (often reinforced by Internet “research”) due to our careful attention to their unique genetic makeup.
These examples are not theoretical, rare or irrelevant. On the contrary, they are clinical, immediate and actionable.
Myth number 2: “It is too expensive”
The reality is that many PGx panels are comparable in cost to panels that physicians commonly order, such as comprehensive metabolic profiles and lipid panels. Many are covered by Medicare, Medicaid, or commercial insurance when medically justified, and testing can help with prior authorizations when there have been multiple medication failures.
Let’s address the cost further. Adverse drug reactions (ADRs) are third cause of death in the countryaccording to recent analyses, surpassing stroke and respiratory diseases. Not only that, but Conservative estimates put ADR at $30 billion a year in the US.. Organizations that have adopted PGx-guided care have demonstrated fewer medication-related hospitalizations and lower overall medication costs. In a value-based care environment, PGx has been justified as a cost-saving precision tool.
And here’s a mantra often heard when describing PGx testing: “Test once and check back often.” Unlike the metabolic profile and lipid panel, the PGx test never needs to be repeated and the results can be applied to future prescription medications, including new ones on the market.
Myth number 3: “It’s too complicated”
As I get older (dare I say, wiser), I understand the concerns that interpreting genetic results seems daunting. The genetics taught in medical school was minimal and perhaps long forgotten, while advances, concepts, and terminology have certainly progressed significantly. I know, I know…the alphabet soup of terms like CYP2D6 and CYP2C19 aren’t in our daily lexicon and add to the idea that PGx isn’t quite ready for prime time. However, let me assure you that using these tests is much less complicated than many other things we regularly deal with. The laboratories provide extremely easy to understand recommendations that are based on FDA Guidance, CPIC (Clinical Pharmacogenetics Implementation Consortium) Guidelinesor other established sources. Many use a simple “traffic light” system: green for safety, yellow for use with caution, red for avoid.
Myth #4: “It takes too long and I’m already overloaded.”
Incorporating PGx testing into my practice is as easy as ordering any other test. In fact, cheek swabs or saliva-based tests are simpler than blood draws and can be done during a routine visit or mailed to the patient’s home. Consider how ordering Cologuard in lieu of a colonoscopy is appropriate for some patients and is now part of many of our routine workflows. Often, the results can be integrated into the EMR and clinical support tools can be carefully employed at the time of prescribing. However, the real time savings here is the elimination of trial-and-error prescribing, phone calls from patients about ineffectiveness or side effects, and callbacks to pharmacies.
We improve care with purpose and precision
To me, PGx testing represents the essence of compassionate primary care medicine. “Primum non nocere” (first do no harm) was our oath when we graduated from medical school. Prevention and patient engagement is what we strive for every day.
As primary care continues to shift toward more personalized and proactive models, tools like PGx will play an increasingly important role in helping us deliver safer, more effective treatment the first time.
As a family physician, I believe it is the obligation of physicians to translate new science into daily care. Personalized medicine has never been a new slogan; It is what we have always strived to achieve. Here is a tool to help you. Let’s accept it.
About Dr. Joel Diamante
Dr. Joel Diamante, MD He is the co-founder and medical director of aranscia. Dr. Joel Diamond, MD has extensive clinical and technological experience. He previously served as CMIO and Chair of the Physician Advisory Board at the University of Pittsburgh Medical Center, St. Margaret Memorial Hospital, where he facilitated the adoption of 100% CPOE at a community hospital. He helped develop dbMotion, a solution for health information exchange and population health. He is a diplomate of the American Board of Family Medicine and a member of the American Academy of Family Physicians while continuing to see patients at Handelsman Family Practice in Pittsburgh, PA.
