Lynch syndrome (LS), an inherited cancer syndrome, affects approximately one in every 279 individuals in the US, or about 1.2 million people. Each year, as many as 4,200 colorectal cancers and 1,800 uterine cancers are
caused by the genetic condition, according to the CDC.
NCCN guidelines recommend that genetic testing be offered to anyone with an LS associated cancer before age 50, along with their close relatives. Experts indicate that genetic counseling and testing for LS may be
appropriate for patients who have been diagnosed with colorectal cancer or endometrial cancer (especially before age 50) or who have several family members with colorectal, endometrial, or other LS-associated cancers.
And yet, less than 1.2% of individuals with LS have been identified in the general population. Why is it that so few people with LS know it, given that it is a condition that confers an 80% lifetime risk for colorectal cancer and a 60% lifetime risk for endometrial cancer, along with increased risk for other cancers ranging from stomach to ovarian to brain cancer?
Barriers to Lynch Syndrome Screening and Counseling
As a genetic counselor, I believe this is largely due to the fact most primary care physicians do not conduct an annual comprehensive family history screening that could identify high-risk patients in their practice. In addition, there is a lack of continuity between primary care and oncological and other specialized care. Recent
studies reveal that referrals to genetic counselors are underutilized in US patients with hereditary cancer syndromes, even though a referral to a genetic counselor to help assess personal and family risk is a critical step in access to genetic testing.
Identifying patients and their relatives who have LS can help improve health outcomes, as it allows for closer surveillance to reduce risk for cancer and can lead to early detection of cancer should it develop. Regular colonoscopies initiated at an earlier age have been shown to reduce incidence of colorectal cancer and reduce mortality in patients with LS, proving there is a clinical benefit in identifying at-risk individuals.
