By Joel Diamond, MD, FAAFP, Chief Medical Officer, 2bPrecise
Twitter: @2bPrecise
While perhaps not as definitively as Newton’s law of gravitation, most providers embrace “early detection” as a truism for improving outcomes of most diseases and disorders.
This is certainly the pervasive view in the diagnosis and treatment of cancer. Studies note that in 2018, more than 18 million new cases of cancer were diagnosed – and that nearly 5 million cases of breast, cervical, colorectal and oral cancers could have been detected sooner and, consequently, treated more effectively.
Among the most effective weapons for early detection is understanding which patients are genetically at risk for heritable forms of cancer. Unfortunately, providers who are in the best position to identify individuals at elevated risk are rarely equipped to do so. The Journal of the American Medical Informatics Association recently released a study, for example, revealing that half the women meeting national guidelines for genetic screening are not getting the tests they need to determine their breast cancer risk. According to the study, “The full story of a patient’s risk for heritable cancer within their record often does not exist in a single location.”
In other words, providers are forced to rely only upon the family history stored in their own electronic medical record (EMR), and this is often incomplete. Patients share bits and pieces of their history with multiple providers, across various specialties, using disparate clinical information systems. No mechanism exists to aggregate and present a complete view of hereditary information to providers who might need it most, even across a health system utilizing connected or interoperable technologies.
To address this chasm, healthcare leaders must adopt tools designed specifically to chart the incidence of disease in a family, and that reach beyond a single EMR to bring critical risk information into a central hub. This approach enables primary care providers and other specialists to identify familial susceptibilities and make timely decisions about referring patients to a genetic counselor or ordering a genetic test themselves.
Clinicians ordering genetic tests have a second chance to ensure patients at risk for cancer do not fall through the cracks. It is common for providers to order a single-gene test when they suspect heritable cancer – and payers reinforce this practice through their reimbursement policies. However, many cancers are associated with additional malignant syndromes. Breast cancer, for instance, is associated with pancreatic and prostate cancer, while Lynch Syndrome is linked to endometrial, ovarian, small intestine, kidney and brain cancers (among others). These realities reinforce the need for providers to carefully evaluate when it could be beneficial to order a multi-gene panel that will deliver broader and more precise insights into the patient’s risk.
A final opportunity arises during the actual treatment of the cancer. Oncologists today often test the genomic signature of the tumor itself (somatic testing). Results reveal molecular characteristics that clinicians can use to select therapies specifically targeting the tumor. The molecular profile of the tumor, of course, differs from the patient’s native genetic (or germline) profile. Nevertheless, somatic results on occasion contain suspected germline information – which might help oncologists identify genetic factors indicating risk for a secondary cancer, as well as elevated risks for the patient’s family members. These insights are not frequently acted upon, perhaps because they appear incidental or because no clinical pathway has been established to govern next steps. Recent precision medicine tools, however, can highlight these suspected germline variants.
As parallel advances are made in oncology and genetics, healthcare providers no doubt will discover numerous junctions where the two disciplines can significantly improve early detection and intervention. By embracing innovative tools and technologies entering the market, healthcare leaders can leverage a broader array of information to improve quality of life and outcomes for patients at risk for cancer.