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Two studies involving investigators at Cedars-Sinai Guerin Children's and the University of Cambridge, U.K., highlight the growing potential of whole-genome sequencing to transform the diagnosis and treatment of childhood conditions such as cerebral palsy and cancer.

Whole-genome sequencing is an analysis of the roughly 20,000 genes in a person's DNA. The test, usually performed using a blood or saliva sample, is used to identify genetic variations that may be linked to various diseases.

The first study, published in The Lancet Regional Health–Europe, investigated the use of whole-genome sequencing to identify genetic causes of cerebral palsy in children.

The second study, published in Nature Communications, examined whether rapid whole-genome sequencing—with results available in three to seven days, compared with several weeks for standard testing—could improve the diagnosis and treatment of children with cancer.

"Whole-genome sequencing gives us an opportunity to better understand why a child develops a particular condition and, in some cases, to change how we care for that child," said David Rowitch, M.D., Ph.D., deputy director of research at Cedars-Sinai Guerin Children's, professor of pediatrics at the University of Cambridge and corresponding author of both studies.

" Rowitch discusses the studies' implications for children and families and how Cedars-Sinai Guerin Children's is working to expand access to genomic medicine in Los Angeles and beyond.

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