Trial of genetic testing of newborns
According to the Daily Express, from 2020 the NHS and Genomics England plan to offer parents the possibility of having Whole Genome Sequencing (WGS) for their newborn babies. The genetic test will be carried out side-by-side with the existing heel prick bloodspot test.
The Genetic Alliance called for such a trial in July 2019 in their report about newborn screening for rare conditions.
Download the Genetic Alliance report.
Initial 20,000 newborns
Initially they are hoping that the parents of 20,000 new born babies will take up this offer. The WGS test will give doctors the opportunity to confirm and treat from birth thousands of rare genetic conditions, including of course the various Glycogen Storage Diseases.
This offer is likely to be very attractive to parents who know that there is some evidence of GSD or other genetic conditions in either family, thus putting their child at risk of inheriting one of those conditions.
Results on the child’s medical record
The Express reports that even without at family history of a genetic condition, the WGS data would be checked for any risk of inherited diseases which might develop in later life.
Results from the testing could go onto children’s medical records. Whilst this could be very advantageous, it would be a highly contentious development as it opens up many ethical issues (e.g. informed consent, and at what level of risk do you tell the family that the child may develop a particular condition), also practical problems (such as insurance, employment, mortgages, etc.).
Possible roll out to all newborns
It is reported that if this trial is a “success” it is thought that it may be extended to all babies born in the UK each year, that is around 650,000. There is at present no confirmation of this on the Genomics England website, but if this report is true, there would surely be a major national debate before the plan came into effect.