MedicalResearch.com Interview with:
Heather Hampel, MS, LGC
Associate Director, Division of Human Genetics
Associate Director, Biospecimen Research
Professor, Internal Medicine
Licensed Genetic Counselor
The Ohio State University Comprehensive Cancer Center
Columbus, OH 4322
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: The background is that we had recently shown that some colorectal cancer patients who underwent traditional screening for Lynch syndrome were eventually found to have double somatic (two acquired) mutations in the MMR genes and they did not have Lynch syndrome at all. This was discovered after their tumor had already had MSI and/or IHC screening test, followed by MLH1 methylation and/or BRAF testing, followed by germline DNA testing on a blood sample from the patient for MMR gene mutations, then finally by sequencing their tumor. This gave us the idea to reverse the sequence and start with tumor sequencing since it might streamline testing, save time, and prevent several other tests.
In addition, we knew that all stage IV colorectal cancer are already supposed to have tumor sequencing of the KRAS, NRAS, and BRAF genes and MSI testing for treatment purposes. Our hypothesis was that an upfront tumor sequencing test could replace all these separate tests with similar sensitivity and specificity.
MedicalResearch.com: What should readers take away from your report?
Response: As the price of tumor sequencing begins to decline, it will become the test of choice for all newly diagnosed colorectal cancer patients (and likely all cancer patients). We should consider how this testing can be utilized not only to identify actionable therapeutic targets as originally intended but how it can replace other screening tests to identify patients with hereditary cancer syndromes, or pharmacogenomics test results that may also have an impact on their treatment.
MedicalResearch.com: What recommendations do you have for future research as a result of this work?
Response: A cost-effectiveness analysis needs to be performed since this is a more expensive test to perform on all colorectal cancers but it may be eliminating multiple other tests for a subset of patients so it is possible that it may even be cost-effective at this time. They can certainly determine the price for tumor sequencing at which time this process would become cost-effective if it is not currently.
Disclosures: I have done collaborative research with Myriad Genetics Laboratories, Inc. on the Ohio Colorectal Cancer Prevention Initiative for which they provided free genetic testing to a subset of patients. I am on the scientific advisory board for InVitae and Genome Medical. I have stock in Genome Medical.
Hampel H, Pearlman R, Beightol M, et al. Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer. JAMA Oncol. Published online March 29, 2018. doi:10.1001/jamaoncol.2018.0104
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