A new study co-senior authored by Steven Brenner is the first to comprehensively assess the potential of genomic sequencing to reveal health problems in newborns. The study, NBseq, compared how genomic sequencing fared against standard biochemical testing in identifying 48 rare metabolic disorders in newborns.
The research team concluded that giving sequence data to doctors examining newborns whose illnesses were flagged by standard testing could aid in more precise and timely diagnoses. After careful vetting, sequencing might also enable screening for hundreds of treatable genetic diseases that currently can’t be detected through biochemical testing.
Read more about it here.