Dr Rich Scott and Professor Zornitza Stark: Genomic newborn screening for rare diseases – a review

In this episode of the G Word, 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."