Cancer is the second leading cause of death in the U.S., according to the Center for Disease Prevention and Control (CDC), behind heart disease. Within the universe of cancers, breast is the most common, followed by lung, prostate and colorectal, according to the National Cancer Institute (NCI).
Treatment costs have skyrocketed. According to one report published by The Mesothelioma Center, the burden of cancer care in the U.S. topped $150 billion in 2018, four times higher than treatment for other conditions. The most expensive forms of cancer are lung, colorectal, breast and mesothelioma.
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Distressing statistics like these underscore the importance of making cancer detection, as well as early and effective treatment, a high priority. Not only can we significantly impact the healthcare cost curve, but we can also improve quality and extend the lives of those afflicted.
This, of course, is not a revelation. Vast amounts of attention – and funding – have been directed towards research around the mechanisms of cancer, as well as how best to prevent, screen for, diagnose and treat the disease. Tremendous progress has been made. Nevertheless, patients at risk for, or suffering from, early-stage cancer too often fall through the cracks.
One opportunity available to improve the scenario has not yet been fully leveraged: using genetic and genomic insights to identify risk earlier, arrive at diagnoses sooner and initiate the most effective therapy for each individual patient faster.
These opportunities are not confined to oncology and its subspecialties. With the knowledge that earlier, sooner and faster are key to improving cancer statistics – and patient health – all stakeholders along the care journey must be equipped and empowered to bring genetic and genomic intelligence to bear. This means frontline providers like family physicians, internists and gynecologists must be able to alter the trajectory of cancer, just as oncology specialists do.
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There are three points along the care continuum where providers can close gaps:
- Identifying heritable risk. The NCI estimates that genetic mutations play a major role in 5 to 10 percent of all cancers. Researchers have associated mutations in specific genes with more than 50 hereditary cancer syndromes, the most common being breast and ovarian cancer, colorectal cancer (e.g., Lynch Syndrome) and melanoma.
A documented family history, or pedigree, is crucial for determining which individual patients might be a higher risk for heritable cancers. Unfortunately, current clinical information systems like electronic medical records (EMRs) were not designed to gather this information from across a broad enterprise. Not long ago, the Journal of AMIA (American Medical Informatics Association) found that only half the women who met national guidelines for genetic testing due to familial history of a strong likelihood of breast and ovarian cancer were actually tested. The reason? Family history is typically distributed across multiple provider practices and stored within disparate electronic medical record systems.
The lack of a central precision medicine hub means many patients are overlooked, leading to potentially dire consequences. Tools to compile pedigree data, as well as make it easily accessible and useable with the clinical workflow, are essential so primary care providers can spot a potential risk and refer the individual to a genetics counselor for testing and a consultation.
- Single-gene versus gene panel testing. Genetic counselors and medical geneticists represent the second key failsafe to keep patients from slipping through the cracks and potentially developing serious cancers. Having access to robust pedigree information is important, but these professionals, who advise about what types of testing should be performed and often order tests themselves, need up-to-date information about the best course of action.
For instance, many payers currently reimburse only for single-gene tests. Because many cancers are associated with other malignant syndromes, it is often advantageous for geneticists to order a genetic panel. Examples of these situations include breast cancer, which can be associated with pancreatic and prostate cancer, as well as Lynch Syndrome, which can be associated with endometrial, ovarian, small intestine, kidney and brain cancers (among others). Former President Jimmy Carter is a case in point. His family has a strong history of pancreatic cancer, which he also was ultimately diagnosed with. In addition, Carter has also been treated for cancerous lesions on his liver. Research is still investigating these links among cancers; however, it is highly likely that broader testing can help oncologists determine the potential range of disease and treat the patient accordingly.
- Suspected germline insights. The third juncture where significant gains can be made in slowing the incidence of cancer is during treatment itself. Most oncologists today perform genetic testing of a patient’s actual tumor (i.e., somatic testing). The DNA of the tumor is different than the “native” DNA that represents the patient’s genetic blueprint (i.e., germline data). Somatic results enable the oncologist to target therapies designed to attack the specific molecular profile of the cancer, often with great effect.
Less widely leveraged, however, is trace germline information that might be contained with the tumor sample. Referred to as “suspected germline” results, this data is seldom factored into the oncologist’s long-term care plan – even though suspected germline results might help oncologists identify genetic factors indicating patient risk for secondary cancers, as well as elevated risks for the patient’s family members.
While healthcare has come a long way in treating cancer, the potential to be even more effective is astounding. As researchers and clinicians understand and embrace the advanced insights genetic and genomic testing can deliver, the industry is poised to dramatically reduce the incidence and mortality associated with cancers. To fully leverage these breakthroughs, however, healthcare leaders must be prepared with the necessary tools and solutions to accommodate these new findings, workflows and data sets.
Photo: Main_sail, Getty Images
Dr. Joel Diamond, CMO of Aranscia, has extensive clinical and technology experience. He formerly served as CMIO and chairman of the Physician Advisory Board at the University of Pittsburgh Medical Center, St. Margaret Memorial Hospital, where he facilitated 100% adoption of CPOE in a community hospital. He helped develop dbMotion, a solution for health information exchange and population health. He is a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians while continuing to care for patients at Handelsman Family Practice in Pittsburgh, PA.
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