Genomic newborn screening for rare diseases – a review

In this episode, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Dr Rich Scott, Chief Medical Officer and Deputy CEO at Genomics England, and Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetic Services in Melbourne, to discuss their recent paper published in the Nature Review's Genetics journal on 'Genomic newborn screening for rare diseases'. Rich and Zornitza discuss and compare newborn screening practices on a global scale, and delve into the benefits and challenges of incorporating genomic sequencing into newborn screening. Read the full review paper here.  You can read the transcript here: Genomic-newborn-screening-for-rare-diseases.docx   "We’re just also on the cusp of what feels like a really potential game-changing period in terms of the availability of treatments and interventions for rare conditions."