Jeanette McCarthy, MPH, PhD
Fall is conference season, and this year I had the privilege of being invited to speak at several conferences in the concierge, lifestyle, and functional medicine spaces. Collectively this group of health care practitioners represents early adopters of new ideas in health care. They have embraced genetic testing as part of their arsenal to understand patients as individuals and get at the root cause of diseases.
I attended these conferences to promote awareness of the latest genetic testing trends and to teach health care providers how to implement genetic testing into their practice. What I learned by walking through the exhibit halls and listening to other conference goers reminded me why I got into precision medicine education.
Many health care providers in this space are exposed to genetic tests that have little evidence of clinical validity or utility. Some of these tests are throwbacks to a time when a couple of publications reporting genetic associations with nominal P values was enough to believe it true, but upon further scrutiny and in the era of genome-wide association studies (GWAS) they do not hold up. In the worst case, the genetic association is not robustly replicated in the literature and does not even show up in one GWAS (e.g. MTHFR and KIF6 associations with coronary artery disease). In the best case, the variants are convincingly associated with disease, but they increase risk of disease only slightly (F2 and venous thromboembolism), or have no clinical recourse (APOE and alzheimer’s disease). Labs offering these tests do not often explain that presence of one of these gene variants in a patient has little value in predicting their risk of disease.
There are better tests out there - clinically valid and useful tests for identifying hereditary cancers and cardiovascular disease and responses to drugs. These tests have high predictive value and are backed by rigorous scientific evidence - but relative to the other tests mentioned, there is lower adoption. You can recognize these tests because they are offered by reputable labs like Invitae, Ambry, GeneDx and others. Some of these reputable labs are offering these tests at attractive price points to offset the lack of uniform insurance coverage (Color, Phosphorous, OneOme), enabling patients to pay out of pocket.
As an educator, it challenges me to come up with ways to teach health care providers how to recognize good tests from not so good tests. Relying on FDA clearance of a test is not an option as clinical validity and utility of genetic tests are not regulated. It’s difficult to change habits too. Some of these tests are engrained in the psyches of physicians who, as well-meaning early adopters of genetic testing, may be unaware of how the field has progressed in recent years.
Physicians have conveyed to me that there are still barriers to accepting genetic testing into practice. At the forefront are issues around integrating genetic testing into their clinical workflow. They are tired of receiving paper copies of a report and scanning it into the medical record. They want structured data populated into the electronic health record and seamless integration. There are liability concerns too…’if I put the pharmacogenomic test results in my patient’s medical record and don’t use it to guide treatment, am I liable if the patient has an adverse drug reaction that testing could have prevented’? I teach physicians how to evaluate genetic tests, but they invariably ask me to just tell them which lab’s test to use. The bottom line is that they want testing that is simple, cheap, effective and safe.
The diagnostic testing space has gone through an expansive phase in recent years, with dozens of commercial labs vying for a foothold, but there will invariably be a period of consolidation. There are various opportunities for labs to distinguish themselves. Number one is transparency. It is standard practice for reputable labs to list the genes and in some cases the specific variants that their test is designed to detect, along with the evidence supporting inclusion of these genes on their panels. Acknowledging which genes on a panel are backed by rigorous evidence and which are not is essential and a good way to gain trust among customers. Number two is integration. Labs that figure out a way to seamlessly integrate test ordering and return of results directly into the EHR are likely to gain favor among health care providers.
The opportunities for education are never ending in this face-paced field. To learn more about precision medicine, visit us at precisionmedicineadvisors.com.