Genomic research holds the key to many of today’s health challenges. Scientists have come a long way since the human genome project, identifying upwards of 2,000 genes, to an era where genomic principles are applied to the practice of medicine, specifically in pathology and the laboratory. However, that is just the tip of the iceberg and there are various challenges to realizing the promise of precision oncology and personalized medicine.
"Genomics is not only about the right therapy for the right patient but also the ability to predict therapy encompassing prognostic and diagnostic information"
There are many opportunities for patients to utilize genomic testing services, which inform a combination of diagnosis, prognosis, and therapy. Yet, there are many barriers regarding payment for such services, since payers are not always supportive of reimbursing molecular testing. Academic research aimed at discovering game-changing breakthroughs has met with difficulty translating into clinically useful diagnostic tests. Although molecular testing is considered a standard of healthcare by national authorities and high-impact publications, the Centers for Medicare & Medicaid Services and other insurance payers do not provide coverage for many molecular tests. Also, the Food and Drug Administration expressed interest in regulating molecular testing, but realized that it was a resource-intensive process and acknowledged that current practices, regulated under CLIA, ensure validation and deployment of high quality molecular and genomic assays. Payers are narrowly focused on therapeutic applications of molecular testing, and there is a need to better define clinical utility which entails not only therapeutic prediction but also involves the total clinical management of patients. Payers will, hopefully, soon realize that leveraging genomic testing tools will improve the delivery of high-quality healthcare and decrease costs. Genomics is not only about the right therapy for the right patient but also the ability to predict therapy encompassing prognostic and diagnostic information.
One potential solution is combining genomic tests with downstream healthcare costs. For example, some patients demonstrate a positive response to PDL1 inhibitors or other immunotherapeutic strategies. However, such therapies like Keytruda, for example, cost about $20,000 a month and only one in five patients respond positively. Molecular biomarker tests can predict patient responses to such therapies and, more importantly, these tests may be able to predict lack of response, which would result in enormous cost savings and cost avoidance. Such genomic tests cost less than $5,000 but will save hundreds of thousands of dollars per episode when the test is utilized to guide the right therapy for patients. Another example includes metastatic colon cancer treatment where EGFR therapy costs upwards of $50,000 . By testing for mutations in KRAS and NRAS genes, as per National Comprehensive Cancer Network guidelines, only patients who will respond to EGFR therapy are identified. Moreover, molecular and genomic tests help patients undergoing a diagnostic odyssey to arrive at a solution quickly, affecting downstream bioprocessing. Delay in diagnosis leads to superfluous tests, drain on finances, and potentially negative healthcare sequela. Molecular and genomic tests account for 70 percent of healthcare decisions, yet account for only 3 percent of costs. Therefore, a molecular test allows healthcare individuals to better identify patients’ ailments and proceed with treatments, resulting in earlier discharge from the hospital along with other downstream healthcare savings. The healthcare industry needs to look at laboratories not as a commodity but as a valuable service that improves outcomes by providing information about diagnosis, prognosis or therapy, and decreasing healthcare spend.
During the last two years, PathGroup conducted advanced genomic profiling where we integrated results of high-throughput genomic profiling assays into the workups of patients with acute leukemia and myeloid stem cell disorders. This was a large-scale project where we sought to demonstrate the effectiveness of the new standard of care in the diagnostic workup of these patients. The project involved implementing an algorithmic protocol for more than 550 patients. We discovered that molecular testing added clinically important information in 76 percent of cases that were negative by traditional laboratory testing methods. PathGroup’s publication regarding the findings highlighted the clinical utility of its approach and demonstrated its value to the healthcare system.
Cancers need to have a genomic workup that not only elucidates the therapy, but also the prognosis. Is the cancer going to be aggressive and fail all standard therapies, requiring a promising clinical trial or innovative approach to ensure the best chances for the patient’s survival, or is it indolent? With the indolent disease, a doctor can take a “watch and wait” approach and have a therapeutic strategy that is not necessarily aggressive. Prognosis is going to be a standard for part of the information rendered in addition to therapeutic and diagnostic information. There is a need to leverage the diagnostic utility of genomic profiling. Take breast cancer for example, where the four most common molecular subtypes include Luminal A, Luminal B, Triple-negative, and HER2 positive. It is critically important to provide a molecular classification for patients diagnosed with cancer to supplement the histopathologic classification. Clinical decisions based on this information from molecular testing will help in providing the most effective prognosis and therapeutic information. There is a need to engage payers and help them realize the value in diagnostic molecular classification and integration of that information into the standard pathologic workup of malignancies.