USPSTF Recommendation Expands Cancer Screening Pool, Concerns Still Remain

The US Preventive Services Task Force (USPSTF) released new recommendations regarding which individuals should be evaluated for BRCA1/2 — expanding the pool of individuals who should be tested for these genetic mutations.

In particular, the recommendation now includes genetic counseling and testing for breast, ovarian, fallopian tube and peritoneal cancer survivors.

“This expansion is critical because it underlines what those of us in cancer genetics have already known for decades: Cancer survivors can benefit from genetic counseling and testing in many ways,” explained Ellen Matloff, president and CEO of My Gene Counsel, a digital health company that links current, updating, evidence-based information to genetic test results. “First, it can help them determine what treatments would be best based on their current diagnosis and future cancer risks,” she said, adding that it is also important, and possibly life-saving for survivors’ family members.

While many see this as a step forward in genetics, the updated recommendation still comes with concerns: It failed to include newly diagnosed patients with breast or ovarian cancer as well as patients with advanced cancers. In addition, Matloff noted, it did not include men.

“Fifty percent of people with a BRCA mutation are men,” she said. “Males with a BRCA mutation are at increased risk for breast, pancreatic and prostate cancers, and should not be forgotten in these genetic counseling and testing recommendations. Men should also have counseling and testing because these mutations can be passed on to their children and grandchildren.”

So, what does this mean for those not included in the recommendation? “Women and men who don’t fall neatly into these guidelines may need to be proactive and request a genetic counseling appointment,” Matloff recommended. “You can request a genetic counseling referral from your physician or health care provider or go to the National Society of Genetic Counselors to find a counselor near you, or to speak to a counselor by telephone.”

Although not addressed in the updated recommendation, others are also concerned with the use of large-panel genetic tests, which are designed to sequence up to 80 genes at once.

“Bigger is not always better,” Matloff explained. “Using these big panels means that you are more likely to learn that you have a variant of uncertain significance, meaning a difference that may or may not be harmful. When using big panels, we are also more likely to find a pathogenic variant in a gene that we know very little about it. In both cases, it is difficult to know how to use this information. A certified genetic counselor can help you choose the panel that is best for you.”

Despite concerns, the USPSTF’s updated recommendations are a step in the right direction. “This is a positive step forward because we have more data to suggest that genetic counseling and testing is helpful and worthwhile,” Matloff said. “These new guidelines further expand the pool of individuals that should be offered genetic counseling. Every step forward helps remind health care providers to refer their patients for genetic counseling and testing, and reinforces that insurance companies should pay for these services.”