Genome-wide sequencing for developmental delay: What’s next for families after a genetic diagnosis?

By Barbara Greenwood Dufour For many children who aren’t meeting expected developmental milestones, the cause isn’t easily found. Without other observable signs or symptoms or known external factors that could explain the developmental delay, these children undergo multiple diagnostic tests in an effort to get a diagnosis. Unfortunately, in many cases the tests don’t reveal a cause. For families of children with unexplained developmental delays, it can be disheartening to have spent years on a “diagnostic odyssey” only to be told that no reason for their child’s condition can be found. If the condition has a genetic basis, however, genetic sequencing might be able to uncover the cause where traditional testing could not. Although genetic sequencing was introduced into health care in the 1970s, recent developments in

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