Newborn Genetic Screening for Pediatric Cancer Risk

Headshot of Jennifer Yeh

CHDS affiliated faculty Jennifer Yeh and colleagues found that population-based genetic testing of newborns may reduce mortality associated with pediatric cancers and could be cost-effective as sequencing costs decline.

In a recently-published paper in Genetics in Medicine, Yeh and investigators from Boston Children’s Hospital, Dana-Farber Cancer Institute, and Harvard Pilgrim Health Care Institute developed a simulation model to estimate the potential risks and benefits of population-based genetic screening for cancer predisposition syndrome (CPS) genes. These genes are associated with very early onset malignancy and have established surveillance guidelines for early detection beginning in infancy. The model estimated that newborn genetic screening for pediatric CPS would identify approximately 1,580 pathogenic variant carriers among 3.7 million newborns born each year in the U.S. If these carriers were evaluated, had genetic counseling, and underwent cancer surveillance based on the CPS-related variant detected, more than half of their cancer deaths before age 20 among the carriers would be averted.

This study demonstrates how advances in genetics can be applied to populations, and what the implications might be for public health.

This work adds to the literature on universal newborn screening (NBS) which has been successful in improving treatment and decreasing morbidity and death from a number of pediatric diseases.

Learn more: Read the recently-published paper in Genetics in Medicine
Learn more: Listen to the June episode of the GenePod podcast that features the study, Universal Newborn Screening to Identify Pediatric Cancer Predisposition – Could It Work?

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