The United Kingdom and researchers in New York City are testing whether whole-genome sequencing could be used to screen newborns for rare diseases.
plans to sequence the genomes of 100,000 newborns for about 200 rare genetic diseases starting next year. In New York City, a similar project already underway will screen for a slightly larger number of diseases in 100,000 babies from the city’s diverse population.
In many countries, a drop of blood from every newborn’s heel is now screened, using mostly biochemical tests, for anywhere from a handful to dozens of genetic diseases. They range from metabolic disorders that can be prevented with a special diet to muscle diseases such as spinal muscular atrophy that have drug treatments.
The project expects to find about 500 newborns with one of the genetic diseases. If such testing were applied across the United Kingdom, it would find some 3000 babies per year with these diseases, the project’s leaders estimate.
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