Systematic implementation of a digital risk assessment tool can identify patients with high-risk cancer susceptibility syndromes and other actionable variants, according to new research. Using this tool, the researchers found genetic variants of concern in nearly 16% of patients they tested.
“Most of these individuals—and by extension their family members through cascade testing—may not have been diagnosed otherwise,” said Daniel J. Pambianco, MD, who presented the findings at the 2023 annual meeting of the American College of Gastroenterology.
“The perception of hereditary cancer syndromes is that they are relatively rare, but this is not necessarily the case,” Dr. Pambianco noted. For example, about one in 279 individuals have Lynch syndrome and one in 400 have a BRCA 1/2 mutation. “This amounts to several million patients in the U.S. alone,” he said, noting that most of these people and their physicians are unaware of their susceptibility and, thus, they may not be managed optimally.