Extensive clinical evidence has shown that genetic disease screening saves lives. For this reason, Genomics England, a state-owned company, recently announced a pilot whole genome sequencing program to detect genetic diseases in 200,000 newborns who appeared to be healthy .
Are we doomed to such a world? Should we sequence the genome of babies? A new study , published in the British Medical Journal, discusses the technical and moral implications of this big step .
It’s going to happen, we just have to decide how
Only by sequencing a person’s entire genome early in life can the full potential of genomic diagnosis be realized, providing opportunities to make diagnoses more quickly and accurately and to deliver targeted and gene-based therapies with a delay. minimal .
Routine genome sequencing in newborns will eventually happen, but instead of screening newborns for all diseases, the study advocates a phased implementation, where the genome sequence is generated at birth and, with the Over time, the variants are revealed sequentially at the appropriate ages to help reduce the burden of genetic disorders .
Such display of genomic information must be guided by supervisory bodies , with informed consent and appropriate exclusions, they explain. It should also reside in a repository linked to your medical history, easily accessible to healthcare providers and available for re-analysis to keep up with growing knowledge.
To realize the anticipated benefits of routine newborn genome sequencing, they say progress is needed in several areas, including data quality, proper information management, and clinical decision support systems.