Heritable cancer predisposition testing in pediatric cancer patients excluding retinoblastoma in a middle‐income country

Khatib, Omar El; Yahya, Yasser; Mahfouz, Rami; Hamadeh, Lama; Basbous, Maya; Abboud, Miguel R.; Muwakkit, Samar; Rodríguez‐Galindo, Carlos; Jeha, Sima; Saab, Raya

doi:10.1002/pbc.29982

Cited by 1 publication

(2 citation statements)

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“…El Khatib et al. also advocate that guidelines are crucial to provide appropriate care 45 . Through analysis of international multicenter cohorts, additional HCP genes, testing strategies, and cultural considerations may be discovered—emphasizing the importance of developing international guidelines 11,46 …”

Section: Discussionmentioning

confidence: 99%

“…El Khatib et al also advocate that guidelines are crucial to provide appropriate care. 45 Through analysis of international multicenter cohorts, additional HCP genes, testing strategies, and cultural considerations may be discovered-emphasizing the importance of developing international guidelines. 11,46 While parents of survivors of pediatric CNSTs have described value in the knowledge of prevention for their child's care and other relatives, 46 with CNSTs, including informed consent and assent, incidental and secondary findings, limitations, and complexities of results.…”

Section: Geneticsmentioning

confidence: 99%

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

Roy,

Knapke,

Pillay‐Smiley

et al. 2023

Pediatric Blood & Cancer

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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.

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Section: Discussionmentioning

confidence: 99%