Reliability of using a web-based platform in identifying hereditary cancer syndromes: Analysis of 290 electronically collected pedigrees

Identification of hereditary cancer syndromes is difficult in the clinic due to time constraints and evolving professional society recommendations. Several web-based collection systems have been developed, but it is not clear if these tools accurately identify at-risk patients compared to clinical genetic evaluation. This sub-study of the Family History and Cancer Risk Study (FOREST) examines whether web-based collection of family health history (FHH) can reliably identify patients who meet genetic counseling referral guidelines.

Participants completed MeTree, a patient-facing web-based FHH collection and clinical decision support tool that generates referral recommendations based on 2015 American College of Medical Genetics and Genomics/National Society of Genetic Counselors (ACMG/NSGC) guidelines. MeTree referral classifications were independently reviewed by genetic specialists. Agreement between MeTree and specialist determinations was assessed using Cohen's kappa.

Among 288 pedigrees analyzed, 90 (31%) were identified as meeting hereditary cancer referral guidelines. Genetic specialists strongly agreed with 88% (79/90) of MeTree reports with and 99% (196/198) without a referral recommendation (Cohen's Kappa = 0.892). The majority of misclassifications (9 of 13) were due to limitations of data collection of skin cancer sub-types.

Scalable patient facing collection systems can reliably identify patients at risk for hereditary cancer syndromes.