Consumer Genetic Tests Lead to Better Medicine

By Joel Diamond, MD, FAAFP

Consumer interest in genetic testing has taken the medical world, unfortunately, by surprise. 

The first wave of interest was of the “party game” variety. It allowed consumers to explore fun aspects of their genetic profile, such as why they did or did not like IPA beer or cilantro…and whether their ancestors wore lederhosen or kilts.

Soon, consumers came to realize their genetics also hold a trove of medically relevant information. That second wave was generated by the FDA’s approval of direct-to-consumer (DTC) tests related to cancer susceptibility (BRCA 1&2) and medication efficacy and safety (pharmacogenomics or PGx).

This created an unprecedented situation for many providers: their patients had obtained clinical information from outside sources with the expectation it could and should be used in care decisions. Reminiscent of independent ultrasound vascular screenings hosted in public parking lots, these DTC offerings prompted consumers to arrive at appointments with paper-based results from tests performed outside of any clinical context.

On one hand, it is understandable that providers were taken by surprise. Besides not having generated the original order for the tests they were expected to use, many were under the mistaken impression that the value of genetics and genomics is limited to specific specialties like oncology or rare diseases. But, on the other, healthcare organizations have been calling for greater patient engagement in their own health and care for years. It is contradictory for providers to adopt a “not invented here” attitude and resist patient-produced insights that could have a bearing on clinical decisions.

So, where does that leave us as medical professionals? 

First, it means we need to accept that genetics, genomics and precision medicine are here to stay. We need look no further than recent research around the novel coronavirus that has upended the world in the past six months. Not only are investigators trying to unlock the molecular profile of the virus itself, they are focusing equal effort on deciphering how an individual’s genetics (e.g., blood type) impacts their susceptibility and response to COVID-19.

From a practical standpoint, providers can take two major steps to prepare for this brave new world:

Educate themselves. Most providers received only a basic introduction to genetics and genomics during medical school, but there is a plethora of literature available today to help providers conquer the learning curve to ensure they are a step ahead of patients who might bring in DTC test results.

Educate their patients. This step comprises two components. 

• Patients who are already interested in genomics and have taken a DTC test. Providers need to reinforce the patients’ desire to be engaged but, at the same time, let them know that the FDA does not allow DTC tests alone to be leveraged in clinical decision-making. Clinical decision-making must be predicated on accurate and reproducible results. Because DTC tests are not necessarily certified by the Clinical Laboratory Improvement Amendments, providers are often expected to repeat relevant tests through clinical laboratories. 

This requires provider organizations to engage in relationships with appropriate molecular labs and develop workflows to govern the processes around ordering, receiving, storing and sharing the results.

• Patients who are unaware of the value genetic/genomic testing can deliver. The DTC wave has created an unprecedented opportunity for providers to introduce their patients to an innovation that can have a significant and positive impact on their care for the rest of their lives. An individual’s genetic profile rarely changes over the course of a lifetime. This means that, unlike other labs like blood panels that must be repeated, genomic results collected in 2020 deliver value for decades. In addition, it should not be overlooked that being on the leading edge of the precision medicine curve provides a distinct competitive advantage for healthcare organizations in any given market.

Increasingly, healthcare professionals from primary care physicians to specialists across the spectrum are incorporating genetic and genomic testing as their standard of care. They have come to realize that precision medicine does not represent a departure from previous clinical practice. It simply is the next generation of data that can improve patient satisfaction, quality of care and outcomes – continuing a long tradition that includes the introduction of handwashing, blood typing, radiological imaging, laparoscopy and robotics.

In short, genetic and genomic testing simply represents a new data set that can help us be even better providers. Supported by a proper informatics platform, these insights can be brought into the providers’ familiar workflow to be leveraged within an individual patient’s clinical context. The clinician can better assess susceptibility to disease, arrive at more precise diagnoses, improve the safety and efficacy of medications, and select highly targeted treatments. 

JOEL DIAMOND, MD, FAAFP, is 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.