Direct-to-consumer (DTC) genetic tests have been on the scene for some time now. The Federal Drug Administration (FDA) approved the first DTC test on three specific BRCA1/BRCA2 breast cancer gene mutations more than two years ago. Six months after that, the agency similarly green-lighted a DTC pharmacogenomic (PGx) test to examine 33 variants for eight different genes that indicate how effectively patients metabolize specific medications.
Like many such advances, availability of DTC tests is a double-edged sword. On the one hand, it has been a boon to patient awareness and engagement around genetic susceptibility and the value of injecting greater precision into the care process. On the other hand, it has introduced an “end-around” channel that bypasses the provider who plays a significant role in interpreting the meaning of test results and determining what impact the data may have on future diagnostic and therapeutic decisions.
Early Challenges
This has placed providers in a challenging position. In some cases, patients are producing DTC test results during an encounter, rendering the clinician unprepared to factor details from this unexpected information source into immediate decisions. On the one hand, providers want to use all insights possible to provide the best care and outcomes. On the other hand, they need the opportunity to examine the results, refer to best practices and appropriate clinical guidelines, and determine the most advantageous course of action.
It is likewise worth noting that, when patients order DTC tests and bring in the results, they are, in effect, dumping an enormous volume of data into the provider’s lap. Most of this information is saved on a paper document or in a PDF – not available as discrete data that can be accessed within the clinical workflow. Nor were the tests ordered within a relevant medical context, which means providers cannot tie the results to a set of symptoms or clinical indicators that would provide an invaluable starting point.
This dilemma is likely to become only more acute. Consumer – and, therefore, “patient” – interest in genetics and genomics is growing. The onus is on providers to prepare themselves to respond to questions about precision medicine and ensure they are able to direct next steps relative to how the information is used for future care.
Steps for Effective Response
Step one for providers is to educate themselves as quickly as possible. The science around genetics and genomics is expanding at a dizzying rate, and many received only rudimentary education about how to incorporate these data points into clinical decisions during their training years or decades ago. In addition, many clinicians might be under the impression that genetics applies only to certain specialties like oncology or rare diseases. This is not the case. Insights gathered from genetic testing can impact decisions made by virtually any provider in any care setting.
Step two is to recognize the limitations of DTC tests and be able to communicate these effectively to patients. In fact, these tests – although approved by the FDA – are not necessarily certified by the Clinical Laboratory Improvement Amendments (CLIA) and therefore are regulated far less rigorously than clinical genomic tests. This makes their quality and accuracy less reliable. Indeed, the FDA requires that DTC results be confirmed through repeated, clinician-ordered CLIA-certified testing before providers can use them to make or alter medical decisions.
Step three is to ensure patients understand what genetic and genomic results actually mean (and this is true for both DTC and clinical tests). Consumers may view the commercial BRCA1/BRCA2 results as a definitive indicator (“yes, you are at risk” or “no, you are not at risk”), for example. Consequently, they may come to misinformed conclusions such as thinking they can forego breast self-exams or annual screenings – or that they should seek a radical mastectomy. Providers realize this is not the case and, during an appropriate one-on-one encounter, can explain the nuances of cancer risk and susceptibility, and how genetic results can help guide better care decisions going forward.
In this particular example, patients likewise need to understand BRCA1 and BRCA2 mutations commonly identified through DTC tests represent only one piece of a broader breast and ovarian cancer heritability pattern. Additional genetic panels may need to be ordered. Plus, as science changes, providers can re-interrogate clinical test results to identify previously undiscovered data that might affect that patient’s health and care plan.
Clinical-Genomic Workflows are Critical
There is much individual providers can do to ensure they are able to respond appropriately and adequately when patients share DTC test results. Educating themselves about the current state of clinical genetics is critical, as is preparing good materials to discuss with patients who come seeking information.
Healthcare leadership can also help equip their care teams by facilitating the incorporation of genetic and genomic information into standard workflows. As noted earlier, the FDA requires that providers repeat DTC tests, to ensure that only the highest quality and most accurate results drive clinical decision-making. Organizations should already be exploring how to ensure consistent test ordering practices and building a scalable technology infrastructure to manage the resulting data.
This level of preparedness will deliver a wide range of benefits. Such an approach will ensure genomic insights are readily available to the ordering provider and can be shared across the comprehensive care team – and throughout the entire health system. Perhaps most importantly, it means that this valuable data set can be re-interrogated as future scientific advances are made, used for vital clinical trial matching, and leveraged to improve quality initiatives and population outreach.
The advent of DTC tests should be seen as the vanguard of an important healthcare trend. Patients are demanding that their genetics be factored into clinical decisions. Savvy and innovative healthcare leaders have recognized the value of being on the front edge of this wave and are moving quickly to ensure they have the resources, education, and technology in place to ensure precision medicine success.
About Joel Diamond, MD
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.
