TWiPO #90: Newborn Screening For Predisposition to Pediatric Cancers with Dr. Lisa Diller

WATCH THE VIDEO WEBCAST HERE: https://youtu.be/Fd1flMgbfLw

Listen in as our hosts, Dr. Timothy Cripe and Dr. Brenda Weigel, are joined in this episode by Dr. Lisa Diller from Dana-Farber/Boston Children's Cancer and Blood Disorders Center. Dr. Diller discusses the possibilities of genetic testing for pediatric cancer predisposition syndromes in newborn screening programs, but with uncertain benefits and costs. She recently authored a paper exploring mathematical modeling of a screening program for cost and benefit.

You can read her full paper here: https://pubmed.ncbi.nlm.nih.gov/33767345/

EXCERPT: 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.

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