Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights.

ABSTRACT:

Purpose

Genetic testing for pediatric cancer predisposition syndromes (CPS) could augment newborn screening programs, but with uncertain benefits and costs.

Methods

We developed a simulation model to evaluate universal screening for a CPS panel. Cohorts of US newborns were simulated under universal screening versus usual care. Using data from clinical studies, ClinVar, and gnomAD, the presence of pathogenic/likely pathogenic (P/LP) variants in RET, RB1, TP53, DICER1, SUFU, PTCH1, SMARCB1, WT1, APC, ALK, and PHOX2B were assigned at birth. Newborns with identified variants underwent guideline surveillance. Survival benefit was modeled via reductions in advanced disease, cancer deaths, and treatment-related late mortality, assuming 100% adherence.

Results

Among 3.7 milli

SUBMITTER: Yeh JM 

PROVIDER: S-EPMC8263476 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature