As many of you know, throughout my career in medicine, preventive medicine, identifying and reducing the risk of disease, has been my passion. Genomics, or the study of a person’s genes, has become a game-changer in the field of preventive medicine, not solely because of what health complications may affect our futures, but mainly because of what is happening in our bodies today. Research shows that genetic testing may be a more sensitive indicator of health than family history, personal history, exams, or imaging studies. For this reason, I feel strongly that genetic testing should be a part of routine health care.
Genetic testing offers preventive strategies a patient can engage in and screening strategies that may prevent the need for more invasive therapy (such as cardiac surgery, chemotherapy, and radiation). A recent study showed that pathogenic genetic variants were more readily identified with genetic testing over family history when looking at genes associated with hypercholesterolemia, hereditary breast and ovarian syndrome, and Lynch syndrome. The study found that approximately 1 percent of the middle-aged population carried one of these genes. However, the study did not include the moderate risk variants, and I suspect that if these variants were included we would see that more than 1% of the population carries pathogenic and actionable variants.
To acknowledge my bias on this subject, I will use myself as an example: I carry a “pathologic” variant that increases my risk for a number of cancers. Although I am infinitely grateful that my cancers were discovered early and responded to treatment, I wish I had known this genetic information earlier in my life, allowing the opportunity to address my health prior to receiving two cancer diagnoses.
Within the last decade, genetic testing has become more affordable and accessible than ever before, but it is currently not considered a routine part of the standard of care. In my opinion, genetic testing should be completed with the help of counseling and a team of physicians, as the results may require preventive therapies such as screenings, a need for specialists, and, in some cases, medications and surgery.
Unfortunately, and not by intention, our healthcare system focuses more on disease than prevention, waiting for patients to be diagnosed with disease, rather than going to great lengths to prevent disease. However, I am excited that a number of innovative health systems are partnering and providing extensive genetic screenings to patients and staff, especially one taking place at my alma mater, Thomas Jefferson University. The genetic testing platform, called Color, is also being utilized by a number of renowned hospital systems, such as the NIH’s All of Us research study and UCSF’s WISDOM Study, and is available in our office. If you’d like to learn more about preventive genomics, visit genomes2people.
Amr, Sami, Brockman, Deanna, Cassa, Christopher A., et al., Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History, PubMed.gov/2020
Harvard Medical School, https://www.genomes2people.org/