June 01, 2019
2 min read

Population-based genetic testing of newborns could reduce pediatric cancer-associated mortality

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Jennifer Yeh, MD
Jennifer Yeh

CHICAGO — Population-based genetic testing of newborns could be a cost-effective way to reduce mortality associated with pediatric cancers, according to results of a study presented at ASCO Annual Meeting.

Population-based genetic testing of newborns to identify predisposition to childhood-onset cancers has not been studied despite the publication of cancer surveillance guidelines for early detection among infants and children at high risk.

Yeh and colleagues developed the Precision Medicine Prevention and Treatment (PreEMPT) model to assist in estimating the value of targeted population-based newborn genomic sequencing. This model targets six genes associated with early-onset childhood cancers, including RET, RB1, TP53, DICER1, SUFU and SMARCB1.

“This is a hypothetical model that is very motivating and can be part of the newborn screening system that is already established,” Jennifer Yeh, PhD, assistant professor of pediatrics at Harvard Medical School, told HemOnc Today. “We have a lot of exciting material on genomic data and its potential. ... When doing this we asked ourselves, based on the data, what if we did targeted newborn screening and what would we expect to find? This is what the study is all about.”

The researchers simulated cohorts of American newborns receiving the sequencing compared with usual care, from birth to death. Mutations included in the model were assigned at birth, based on data from published literature and the SEER, ClinVar and gnoMAD databases.

Newborns with mutations in any of the six genes underwent cancer surveillance based on previously established guidelines for each pediatric malignancy associated with the genes.

Researchers modeled survival benefit as a reduction in advanced disease, cancer deaths, and treatment-related late mortality risks. They based costs on previously published literature and national databases.

Researchers estimated that in a typical cohort of 4 million U.S. newborns, 1,280 cancer cases associated with the six genes would lead to 451 deaths under usual care. An additional 490 patients would live with radiation exposure risks.

Yeh and colleagues estimated that population-based genomic sequencing would prevent eight cancers among RET mutation carriers and 34 deaths. The sequencing also would result in a gain of 3,190 life-years and a 13% decrease in the proportion of survivors at risk for late mortality associated with radiation.

Researchers calculated an incremental cost-effectiveness ratio of $230,500 per life-year saved, based on a $30 sequencing cost per patient. If no additional cost were accumulated beyond the standard newborn screening, the ratio decreased to $101,100 per life-year.

“This becomes cost effective if the cost of screening goes down,” Yeh said. “The sequencing cost of newborn screening is driving the cost of this program, not surveillance cost. The incremental costs will likely go down with time.” – by John DeRosier


Yeh J, et al. Abstract 10021. Presented at: ASCO Annual Meeting; May 31-June 4, 2019; Chicago.

Disclosures: Yeh reports no relevant financial disclosures. Please see the abstract for all other authors’ relevant financial disclosures.