UC Irvine

Family history is an important screening tool that can highlight features suggestive of a cancer predisposition syndrome (CPS). In collaboration with the McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) project through McGill University and the Genome 4 Kids (G4K) study through St. Jude Children’s Research Hospital, a retrospective analysis of an existing data set of pediatric oncology patients compared aspects of family cancer histories in participants with and without a CPS. MIPOGG is an app that generates a recommendation for or against a genetics referral based on the presence or absence of personal and family history features associated with a high risk for a CPS. Analysis of the features in MIPOGG indicated that personal history features alone were significantly associated with identifying a CPS in participants while family history features alone were not. Although the yield of identifying participants with a CPS using family history features was low, one participant with a CPS was only classified as high-risk for a CPS due to a family history feature. Factors such as a patient’s age and cancer type did not have any clear associations with the degree of relationship or ages of relatives with cancers in a family history. This study highlighted the importance of detailed characterization of personal history features and the low yield of family history as a screening tool for CPSs in the pediatric oncology setting. However, an important subset of pediatric oncology patients with a CPS will only have features concerning for a CPS in their family history; if only personal history features are evaluated, patients such as these may be missed as being at high risk for a CPS. Recognizing the power and limitations of family history as a screening tool for CPS identification can aid in the effectiveness of a healthcare provider’s risk assessment for a CPS at the time of a child’s cancer diagnosis.