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Cascade Testing Proposed for Siblings of Newborns With Cancer Genes

Last Updated: October 27, 2021.

WEDNESDAY, Oct. 27, 2021 (HealthDay News) -- Cascade testing for siblings of newborns born with pathogenic or likely pathogenic variants in pediatric cancer genes could identify siblings with variants, according to a research letter published online Oct. 18 in JAMA Network Open.

Grace O'Brien, from Boston Children's Hospital, and colleagues estimated the benefits and costs of cascade testing of siblings of newborns born with pathogenic or likely pathogenic variants in one of 11 pediatric cancer genes. Children with variants were assumed to have one newborn sibling. De novo variants were assumed to be rare, and siblings had 50 percent likelihoods of having the same germline variants; assumptions were varied in scenario analyses.

The researchers estimated that 1,584 newborns and 792 siblings would carry variants in a cohort of 3.7 million newborns. One hundred sixteen siblings carrying variants were estimated to develop cancer before 20 years of age. Fifteen cancer deaths would be averted if these siblings underwent surveillance, representing a 52 percent reduction. Sibling cascade testing had an incremental cost-effectiveness ratio (ICER) of $16,910 per life-year gained compared with usual care. For individual genes, the ICERs varied from cost-saving to $52,100 per life-year gained; ICER estimates were not changed substantially in scenario analyses on the frequency of de novo variants. In sensitivity analyses, ICERs were robust on sequencing and initial visit costs and surveillance costs.

"Findings demonstrate how sibling cascade testing would enhance newborn screening efforts and how targeted screening approaches may be more efficient than universal screening to achieve population-level benefits," the authors write.

One author disclosed financial ties to Sanford Health; a second author received grants from GlaxoSmithKline.

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