Professor Eva Morava and Dr James Nurse host three of the authors of a recent study looking at the utility whole exome sequencing in newborn screening. Dr Jennifer Puck, Dr Renata Gallagher and Dr Aashish Adhikari explain why we screen, how we screen like we do and what they found when they looked at the utility of WES screening verses traditional MS/MS for 8 years of dried bloodspots in California.

Newborn screening: To WES or not to WES, that is the question

Eva Morava, Matthias Baumgartner, Marc Patterson, Verena Peters, Shamima Rahman

https://doi.org/10.1002/jimd.12303