ObjectivesLynch syndrome increases risks for colorectal and other cancers. Though
published Lynch syndrome cancer risk-management guidelines are effective for
risk-reduction, the condition remains under-recognized. The Cancer Genetics
Program at an academic medical center implemented a population-based cancer
family history screening program, Detecting Unaffected Individuals with
Lynch syndrome, to aid in identification of individuals with Lynch
syndrome.MethodsIn this retrospective cohort study, simple cancer family history screening
questionnaires were used to identify those at risk for Lynch syndrome.
Program navigators triaged and educated those who screened positive about
hereditary cancer, and genetic counseling and testing services, offering
genetic counseling if eligible. Genetic counseling was provided primarily
via telephone. Genetic counselors performed hereditary cancer risk
assessment and offered genetic testing via hereditary cancer panels to those
eligible. Remote service delivery models via telephone genetic counseling
and at-home saliva testing were used to increase access to medical genetics
services.ResultsThis program screened 212,827 individuals, over half of whom were considered
underserved, and identified 133 clinically actionable genetic variants
associated with hereditary cancer. Of these, 47 (35%) were associated with
Lynch syndrome while notably, 70 (53%) were not associated with hereditary
colorectal cancer. Of 3,344 patients offered genetic counseling after
initial triage, 2,441 (73%) elected to schedule the appointment and 1,775
individuals (73%) completed genetic counseling. Among underserved patients,
telephone genetic counseling completion rates were significantly higher than
in-person appointment completion rates (P< .05). While
remote service delivery improved appointment completion rates, challenges
with genetic test completion using at-home saliva sample collection kits
were observed, with 242 of 1592 individuals (15%) not completing
testing.ConclusionPopulation-based cancer family history screening and navigation can help
identify individuals with hereditary cancer syndromes across diverse patient
populations, but logistics of certain downstream service delivery models can
impact outcomes.