Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients

Abstract

Genomic medicine and the use of genetic information in pediatric oncology has provided insight on the molecular underpinnings of childhood cancers and has demonstrated that cancer predisposition syndromes (CPS) are underdiagnosed. Diagnosis of a CPS has important implications for the patient and their family. In childhood, CPS are often diagnosed by geneticists or oncologists with expertise in CPS following a malignancy, however, this requires a member of the care team, most commonly, the treating oncologist to suspect a CPS and refer them for assessment. We sought to understand current referral practices of pediatric oncology healthcare providers and barriers to referral for evaluation of a CPS. An online survey was sent to members of the Children's Oncology Group. Of the 189 respondents, 80.4% were pediatric hematologists/oncologists and most (69%) used formal guidelines to aid in referral assessment.Guideline use was associated with a higher proportion (>5%) of patients with a CPS in the respondent's practice. Participants were more likely to refer patients with malignancy and additional features of a CPS than for a specific type of cancer, despite the use of guidelines. Most respondents indicated they would rarely refer patients with tumors highly associated with CPS.Patient/parent knowledge of family history was considered the most challenging barrier to obtaining a family history, though a thorough three-generation pedigree was not consistently attempted. Overall, participants indicated the most significant barrier to referral was priority given the patient's more immediate care needs. Other barriers to genetics referral identified elsewhere