13th November 2019
Genome sequencing of healthy newborns: BSGM response
Due to the number of media enquires following Matt Hancock’s announcement at the Genomics England Research Meeting to offer genome sequencing to healthy newborns, The BSGM executive committee has drafted a formal response. Our message is that while the BSGM supports the use of genome sequencing as a diagnostic tool, in newborn infants and children presenting with serious problems consistent with genetic conditions, genomic sequencing of healthy newborns could be problematic. As stated in our response:
‘Such a venture therefore needs to be carefully researched, and the ethical and societal aspects require careful consideration before roll-out to the general population. The pilot research study will therefore need to evaluate which results will be communicated as well as what parents understand might be communicated to them. Those results that are communicated should abide by current professional advice which recommends that children are not tested for adult onset conditions if there is no effective preventative intervention or treatment in childhood. Issues such as sample and data storage, access and retrieval also require detailed scrutiny.
Before genome sequencing is rolled out into practice, it is important that the programme meets the criteria for screening set out by the National Screening Committee. These include that the pilot study gathers information on the health economic benefit of this approach, comparing it with current methods of newborn screening. The study must also seek to explore ethical concerns and consider the long-term impact on the child and their family, and address issues such as data storage and retrieval in the presence of future health concerns.’
To see the full response, please click here
As well as drafting this response, BSGM Executive committee member, Dr Frances Elmslie, has also responded on behalf of the BSGM in two media reports.
BMJ Fact Check: Will genome testing of healthy babies save lives? (Published 11 November 2019)
New Scientists: Sequencing the genome of every UK baby would be ab ethical minefield (Published 7 November 2019)
For the recent report on Newborn screening from Genetic Alliance UK, which gives a patient’s advocacy groups take on newborn screening for rare conditions, please click here