amy l. mcguire baylor college of medicine email

2, 4, 15 Critics of GS remind us that despite its promise, GS is unlikely to replace all screening, because biochemical tests like tandem mass spectrometry are superior at detecting some disorders. 11 Additionally, GS can identify the risk of future disease thus creating opportunities for early interventions to prevent or prepare for future health problems. 6, 11, – 13 Advocates of GS expect its utility to surpass that of NBS because GS could shorten the time to diagnose diseases 14 by interrogating thousands of disease-causing variants at once 15 and detecting conditions that NBS currently cannot. 9, 10 GS of newborns has the potential to provide comprehensive information of clinical and personal utility to clinicians and families. 7, 8 Others have noted the inevitability of introducing GS into or alongside current NBS programs. 5, 6 Some have even suggested that every infant will be sequenced at birth in the not-too-distant future.

Continued technological advancements in genomic sequencing (GS), alongside its increased affordability, have generated growing interest in applying GS to the clinical care of newborns.

Amy l. mcguire baylor college of medicine email