The pros and cons of newborn genome sequencing by Darren

Darren recently wrote a short piece for IGENOMIX UK over on LinkedIn!

With the announcement that Genomics England are to sequence the genomes of 200,000 newborns, the thorny issue of whether the genomes of all newborns should be screened at birth raises its ugly head. Even the most enthusiastic advocate of this approach does not favour letting all the available information be free and open from the outset.

Rather, the argument is that, once the initial sequencing is complete, the information would be readily available at any point in the future, without the need for laboratory re-testing. There is no doubt that this would facilitate rapid intervention, should the significance of a new variant become apparent or a new treatment become available. My head was turned in this regard from meeting two young people recently whilst filming for a TV documentary on genomics. The first, a porphyria sufferer and the second, a baby with spinal muscular atrophy who was close to her first birthday. Both are benefitting from the latest in genomic therapy; both would have benefitted more had the diagnosis been earlier...

Read the rest of the article here...