Direct-to-consumer genetic tests attempt to capture the zeitgeist of personalized medicine

Jeff Balser

The hype and untethered expectations around retail DNA tests — which until not too long ago were outside the price of anyone but cutting-edge researchers — are enjoying a meteoric rise thanks to the falling price of sequencing technology. And people’s interest in their roots is quickly turning into demand for tailored care based on what those gene readouts say.

In addition to sating the curiosity about heritage, patients are wrangling with the fear of “what if?” The refrain of “what does this mean for me” reverberates without accessible evidence-based answers.

As clinicians we know that far more goes into predicting and treating disease than genetics alone. DNA is a roadmap to some of the potential risks, but it isn’t destiny. Health doesn’t work that way. Yet the direct-to-consumer trend is rapidly changing every part of our industry and there’s intensifying clamor for genome-based health advice — with good reason. Studies of consumer preferences for health care rank “personalization” at or near the top.

Our busy days can’t morph into repeat sessions of Genetics 101; and while discoveries add volumes of “knowable” genomic information almost daily, the preponderance is at best awkward for the practicing clinician to readily use. And it’s often all but impossible. So, when someone wants their commercial results interpreted at a clinic visit, what do we say or where do we send them?

This is the ambiguous reality clinicians face. We are practicing medicine at the intersection of expectation and limitation, amid breathless acceleration of DNA science and technology. And that’s hard to face. We begin to find ourselves unable to provide patients with the most up-to-date advice.

Physician-scientists at Vanderbilt University Medical Center (VUMC) are on the vanguard working to envisage and design a future that puts useful genomic decision support for clinicians into the routine process of patient care, within clicks and through expanded team-based support. A pilot to aid in selecting the appropriate genetic test at the outset of diagnosis via the electronic health record is soon to launch in pediatric neurology, where demand is high. Follow-on rollouts will place genetic counselors and smarter EHRs into obstetrics and a primary care internal medicine clinic.

Success requires instrumenting our health IT and care models to solve this dilemma at the front line, ensuring clinicians are able to get the information they need to manage patients at the point of care, reserving only the most complex conundrums for specialty referral or genomics consultation.

VUMC’s PREDICT decision support, or Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment, for drug order entry is an example of how people, process and technology can enable genetically informed selection of the right drug, for the right patient, at the front line of care during routine drug ordering. VUMC now has 10 drugs up and running with genome-specific advice for clinicians at the bedside with new “best practice advisories” on six psychiatry medications planned for this spring.

Clinicians are often resistant to rapid change — it’s embedded in our training to rely on what is tried and proved, seeking to “do no harm.” Yet we also find ourselves in a position where helping those we are sworn to serve requires us to translate the growing cacophony of genomic data. We must reassure the “worried well,” while expertly guiding patients who are truly at risk.

It’s time to recognize that helping people navigate the genomic revolution is becoming a central responsibility of all clinicians. Our patients are counting on us to cut through the noise and hype and provide expert, holistic guidance — and deliver what we as clinicians know is truly personalized care.

Disclosure: Balser reports no relevant financial disclosures.