By Dr. Keith DesRochers, Forward Los Angeles Physician
At Forward, we believe genetic analysis is an essential component of comprehensive primary care and is integral to our vision for preventive medicine. At every member’s initial visit they have the option to receive a complimentary genetics kit and then return for an in-person or virtual consultation to discuss their results within the next few months.
Asking about a family history of various conditions has long been a cornerstone of medical practice, and doctors in almost every field of medicine will attest to the importance of this data. Yet little attention is paid to the quality of this information – for example, how many of us actually know with certainty the details of our grandfather’s cancer diagnosis many decades ago? When that beloved aunt passed away suddenly, was that because she had a heart attack or was it something else? And individuals who were adopted or are estranged from family, or simply grew up in a family culture where illness wasn’t spoken about, are also unable to access this information. Genetic analysis allows us to begin filling in some of these gaps and can provide important clues to a member’s future health.
Outside of a small handful of disorders, the development of most conditions is a complex interplay of genetics, lifestyle, and environment and not attributable to a single gene mutation. Most purely genetic disorders are diagnosed in childhood (or even in utero) and therefore the likelihood of these diagnoses in adulthood is not as high. The genetic analysis that we provide at Forward generally assesses an individual’s relative risks – the degree of increased or decreased risk a member holds compared to the population – rather than indicating a specific diagnosis. Although this information may seem subtle, the implications can be powerful.
Studies have shown that providing individuals with knowledge of their unique risks can drive healthful behaviors to a greater degree than generic recommendations. And even more importantly, there is evidence that lifestyle and preventive medicine interventions can overcome these genetic risks. For example, knowing about an increased risk of heart attack can motivate healthier eating and tougher workouts, which will in turn meaningfully counteract the elevated risk of heart attack.
Customized cancer screening is another area where genetics offers valuable insight. Population screening guidelines are based on the risks of the “average” individual, but we all know that no one is “average”. A reported family history of common cancers (e.g., breast, prostate, colon) will inform a typical doctor’s decision about screening, so incorporating actual genetic data is a logical extension of that assessment. If a genetic analysis shows a 300% increased risk of prostate cancer, early screening just makes sense.
Very few diagnostic tests in medicine are 100% accurate, which is why doctors are trained to order and interpret tests based on their assessment of the true likelihood of the condition being present. This concept of pre-test probability means that the doctor should have in mind a rough estimate of the probability of positive and negative results before ordering a test. Any factors that affect the pre-test probability of a certain condition being present may therefore affect the decision to order a test and the understanding of its results. Although a genetic analysis can’t yet confirm a diagnosis of lupus or rheumatoid arthritis, knowing about a genetic predisposition may lead to earlier testing for these conditions. Additionally, lab results for these conditions are often equivocal, so knowledge of genetic risks may affect the clinician’s decision to act based on these results.
Another exciting area of impact for genetics in primary care is in identifying the most effective or least harmful medication for a particular condition out of a variety of different options. This field is known as pharmacogenomics. As an example, an individual with a history of heart attack or stroke may be placed on a blood thinner, but how do you know which blood thinner is best? A close analysis of your genetics may suggest that one blood thinner is likely to be more or less effective for you, which has important implications for preventing another heart attack.
These are early days in incorporating genetics into primary care. As the evidence base grows and this practice becomes more widespread, we at Forward will continue incorporating new findings into our analysis and developing predictive tools to help our doctors offer the best in preventive medicine.
To schedule a Genetic Visit with your Forward doctor, sign into the mobile app and find the scheduling card. Not a Forward member? Learn more here.
Dr. Keith DesRochers is a physician at Forward, a primary care practice combining top-rated doctors and advanced medical technology. In addition to comprehensive preventive and primary care, Forward provides COVID-19 remote risk assessments, testing and ongoing care.