Should all babies have their genome sequenced at birth?BMJ 2021; 375 doi: https://doi.org/10.1136/bmj.n2679 (Published 18 November 2021) Cite this as: BMJ 2021;375:n2679
- Leslie G Biesecker, director, Center for Precision Health Research1,
- Eric D Green, director1,
- Teri Manolio, director, Division of Genomic Medicine1,
- Benjamin D Solomon, clinical director, National Human Genome Research Institute1,
- David Curtis, honorary professor, UCL Genetics Institute23
- 1National Human Genome Research Institute, Bethesda, Maryland, USA
- 2UCL Genetics Institute, University College London, UK
- 3Centre for Psychiatry, Queen Mary University of London, UK
- Correspondence to: L Biesecker , D Curtis
Yes—Leslie Biesecker, Eric Green, Teri Manolio, and Ben Solomon
Routine genome sequencing of newborns is often cited as an aspirational component of precision healthcare. It is being studied in clinical research settings123 and, conceptually, is an extension of screening newborns for genetic diseases. Today’s newborn screening involves analysing metabolites, but a broader implementation that includes genome sequencing will eventually happen.
Extensive clinical evidence has shown that screening for genetic diseases saves lives. Research has shown that it can be cost effective,4 especially when the expense of genome sequencing is amortised across the many diseases and pharmacogenetic traits for which the sequence is available over a lifetime. We therefore contend that the central issue is timing: although we are not prepared today for widespread, routine genome sequencing in newborns, it is coming within a few decades.
Newborns should not be screened for all potential diseases, however. Insufficient data support this idea, which would likely overwhelm families and healthcare systems, and it is difficult to show that full screening would have clinical utility for adult onset or untreatable disorders. We instead advocate a phased rollout of the process, where the genome sequence is generated at birth and where, over time, genomic variants are disclosed sequentially in newborns (for example, designated newborn screening conditions), children (Wilms’s tumour, retinoblastoma), teenagers (aortopathy, cardiomyopathy), reproductive years (carrier risks), and adults (colon, breast cancer). This approach would disclose findings at a life stage …