The application of genetics to the field of oncology continues to provide exciting advances in detection and treatment for a wide range of cancers.
It’s widely accepted that early diagnosis is the optimal way to defeat most cancers, however only a few cancers like breast, colon and cervix have reliable, gold-standard screening tests routinely recommended by physicians and national organizations like the American Cancer Society.
One of the most promising developments is the advent of liquid biopsies, or blood tests that can screen for a wide range of cancers including diseases like ovarian and uterine cancers — conditions that don’t currently have a proven screening tools for early detection.
“There’s a lot of buzz right now about laboratory-developed tests that can detect multi-cancer signals. It’s particularly exciting for harder to diagnose cancers,” said Endeavor Health’s Peter Hulick, MD, The Janardan D. Khandekar, MD, Chair of Personalized Medicine and Medical Director of Mark R. Neaman Center for Personalized Medicine.
“The National Cancer Institute and others are launching studies to help gather data to prove the clinical utility or usefulness of these tests.”
Endeavor Health, an early leader in the area of personalized medicine and cancer genomics, will participate in trials for multi-cancer screening blood tests that hold enormous promise, said Dr. Hulick.
“The idea is that eventually these tests could be offered to everyone at a certain age, whether that’s 45 or 50. The goal is that anyone would be eligible and it would be a real game changer in terms of diagnosing early cancers,” explained Dr. Hulick.
As people are becoming more aware of multi-cancer tests and their availability, patients are asking questions and looking for physician consults. Currently the tests are quite expensive, in the neighborhood of $900 and are not covered by private insurance or Medicare. The tests work by detecting DNA fragments and other small molecules shed by cancer cells.
There are limitations to the current tests on the market, but Dr. Hulick and his colleagues are encouraged by the prospect of the new blood tests to help close the gap in cancer screening.
Genetic screening may still identify an actionable finding, even in the absence of family history of cancer. There is building evidence to consider population screening for Lynch syndrome and hereditary breast and ovarian cancer syndrome. Lynch syndrome, which is caused by a pathogenic variant in one of five genes (MLH1, MSH2, MSH6, PMS2, and EPCAM), is the most common cause of hereditary colorectal cancer.
People with Lynch syndrome are more likely to get colorectal and some other cancers at a younger age, including uterine (endometrial) and ovarian cancers. The Division of Genetics at Endeavor Health was started by Henry Lynch, for which the syndrome is named after.
Hereditary breast and ovarian cancer syndrome relates to pathogenic variants occurring in BRCA1 and BRCA2 — the two most common genes known to be associated with hereditary breast and ovarian cancer as well as other cancers that affect both men and women.
Population Health Initiatives designed to increase access and awareness of genetic screenings for cancers are an exciting area of growth.
“We need to keep breaking down the barriers to access for these important screenings,” said Dr. Hulick, who cited Endeavor Health’s genetic wellness assessment as an example of efforts to broaden awareness and access to the undeniable value of leveraging genetic information for improved oncology care.
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