Richard Scott

Mar 20, 2024 | bmj.com | Richard Scott |Ellen Thomas |Interim CMO |Genomics England

Dear EditorRachel Horton and colleagues describe potential challenges related to the Generation Study[1]. The study will shortly launch and will examine the risks, benefits and broader implications of genomic newborn screening (gNBS), support new discovery through research and investigate storing an individual’s genome over their lifetime to support their healthcare.

Jun 29, 2023 | nature.com | Zornitza Stark |Richard Scott

AbstractRare diseases are a leading cause of infant mortality and lifelong disability. To improve outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has transformed the traditional diagnostic process, providing rapid, accurate and cost-effective genetic diagnoses to many.