Evaluation of barriers to referral for cancer predisposition syndromes
in pediatric oncology patients
Abstract
Background: Cancer predisposition syndromes (CPS) are underdiagnosed in
the pediatric population, though the diagnosis of a CPS has important
implications for the child and their family. CPS are often diagnosed by
geneticists or oncologists with expertise in CPS following a malignancy.
This requires a member of the care team, most commonly, the treating
oncologist to suspect a CPS and refer the patient for assessment.
Procedure: An online survey was distributed to members of the Children’s
Oncology Group to elucidate current referral practices and barriers to
referral for patients suspected to have a CPS. Results: Of the 189
respondents, 80.4% were pediatric oncologists and most (69%) used
formal guidelines to aid in referral assessment. Most respondents
indicated they would rarely refer patients with tumors highly associated
with CPS. 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. Parent knowledge of family
history was considered the most challenging barrier to obtaining a
family history, though a thorough pedigree was not consistently
elicited. Providers indicated the most significant barrier to referral
was priority given the patient’s more immediate care needs. Conclusions:
Provider education about CPS and creation of clear referral guidelines
should increase appropriate referrals. Utilization of a genetic
counselor within the pediatric oncology clinic may encourage CPS
assessment and enable oncologists to focus on the patient’s immediate
care needs.