When it comes to carrier screening for single-gene disorders in prospective parents, the standard of care for decades has been to check carrier status for a limited set of disorders. These diseases have typically been selected based on family history or an increased frequency of mutation within a specific racial or ethnic group. Prospective parents also now undergo universal screening for cystic fibrosis.
Study design. U.S. researchers designed a study to consider the benefits of rapid expanded carrier screening for a large number of conditions—all at once—over screening for a limited set of disorders.
The retrospective study included 346,790 prospective parents who were tested to see whether they carried genes for 95 severe conditions—which, left untreated in their offspring, would cause intellectual disability or a much-shortened lifespan—or in some profound cases, both.1