NIH -- National Institute of Health -- Press Release October 19, 2021

Genetic testing of the siblings of newborns with cancer genes could reduce rare pediatric cancer deaths by half, NIH-funded analysis suggests
 

 
 
What
Genetic testing of the siblings of newborns found to have mutations in any one of 11 genes most commonly associated with childhood-onset cancers could reduce deaths from these rare cancers by about 50%, suggests a study funded by the National Institutes of Health. Moreover, such routine testing could save nearly $17,000 per year for each year of life gained among the siblings, compared to not testing for the mutations. The study, conducted by Grace O’Brien, M.S., of Boston Children’s Hospital, and colleagues, appears in JAMA Network Open. The study was funded by NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development and National Human Genome Research Institute.

Based on current rates for childhood cancers associated with these 11 mutations, the researchers assumed that of an estimated 3.7 million U.S. newborns, 1,584 would have the mutations, 792 of their siblings would also carry these mutations, and 116 of the siblings would develop cancer before age 20. If siblings carrying these mutations were diagnosed at birth and subsequently underwent regular screening, 15 out of 29 deaths before age 20 (52%) would be prevented, saving an estimated $16,910 per year of survival, compared to not routinely testing siblings.

According to the authors, these benefits are comparable to those found in studies testing the relatives of adult cancer patients with known cancer-causing mutations.

Who
Tracy King, M.D., M.P.H, of the NICHD Intellectual and Developmental Disabilities Branch, is available for comment.

Article
O’Brien, G. Estimated cost-effectiveness of genetic testing in siblings of newborns with cancer susceptibility gene variants. JAMA Network Open 2021.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD leads research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all. For more information, visit https://www.nichd.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

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