A full genome read gives nearly one in three children a long-awaited answer

For families of children with unexplained intellectual disability or developmental delay, a diagnosis can take years of tests. A Baylor Genetics study of more than 650 children, published in Frontiers in Neurology, found that reading the whole genome — not just the usual gene panels — delivered a clear genetic diagnosis for 31.1% of children, and for nearly half of those who had rapid testing as a trio with their parents. About one in eight children who had already had narrower testing finally got their answer this way.

SDG 3 · Good health and well-being — Mechanism: tech innovation