By Joel Diamond, MD, FAAFP, an Adjunct Associate Professor of Biomedical Informatics at the University of Pittsburgh. He is a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians. He cares for patients at Handelsman Family Practice in Pittsburgh and serves as chief medical officer for 2bPrecise.
In its earliest days, genetic and genomic testing typically fell under the purview of select specialties such as oncology, rare diseases and maternal-fetal medicine, but no longer. Increasingly, and appropriately, precision medicine is likewise finding a home within primary care.
It makes sense. The primary care provider (PCP) typically is the first-line point of access for a wide variety of medical services. Advances in genetic and genomic science equip PCPs with insights to speed accurate diagnosis of complex presenting conditions, improve medication safety for treatment of common conditions, and identify treatments and care plans most likely to produce desired outcomes.
Consider the value precision medicine can deliver in these three areas alone:
Improved medication safety. Healthcare has become adept at managing drug allergies, but lags in other areas that likewise influence medication safety and efficacy. Genetic variations drive how well – or poorly – a patient metabolizes a specific drug. If an individual is a fast metabolizer of clopidogrel, for example, his or her body will process it too quickly.
The medication may not provide appropriate protection against clotting which, in turn, has life-threatening consequences. Pharmacogenomic (PGx) testing provides PCPs with the information they need to select the safest, most effective medications for each patient. PGx is particularly valuable for PCPs treating behavioral health issues such as anxiety or depression (typical “trial-and-error” approaches delay therapeutic benefit for months), pain management (where efficacy is critical to timely recovery, management of comorbidities like high blood pressure and addiction avoidance) and common cardiovascular conditions like hyperlipidemia.