Current practice of cancer predisposition testing in pediatric patients with CNS tumors in the United States.

Abstract

An estimated 8.6% of all pediatric patients with central nervous system tumors (CNSTs) have underlying hereditary cancer predisposition (HCP). Identifying HCP affects risk assessment and medical management options for the patients and their family members. However, there is a lack of consensus on the optimal germline genetic testing (GT) approach for pediatric patients with CNSTs. As a first step in addressing the need for consensus, we surveyed oncology and genetics providers from 47 institutions in professional organizations across the United States. We investigated their current practice (e.g., GT decisions and ordering practices) when assessing pediatric patients with CNSTs for HCP. We received 60 responses from 21 pediatric oncologists, 10 neuro-oncologists, 28 genetics providers, and one neuro-oncologist/geneticist. Results demonstrate genetic counselors, followed by oncologists, most often facilitated consent, ordered testing, and selected which test to order. The most ordered test was a multi-gene panel (60%). Of 18 CNST diagnoses, choroid plexus carcinoma (CPC) was the diagnosis for which most providers (78%) reported they would offer GT. For medulloblastoma, 56% overall reported they would offer GT (64% of genetics providers, 62% of neuro-oncologists, 20% of pediatric oncologists; p=.050). Findings suggest that even for the CNSTs most commonly known to be associated with HCP regardless of family history, there was variability in providers' decisions to offer GT. The lack of consensus in GT decisions in our study indicates inconsistencies in the genetics care of pediatric patients with CNSTs, demonstrating a need for consensus guidelines to promote consistent genetics care.