Sunday, 5 December 2021

A 'Silver Spoon' For UK Neonates?

UK neonates currently get a heel prick or blood-spot test around their 5th day of life. This test allows doctors to look for evidence of 9 serious but treatable medical conditions in babies. These include Sickle-cell anaemia and impaired thyroid function. Some people want to augment these tests, by also carrying out Whole-Genome Sequencing (WGS) on each neonate (https://www.theguardian.com/science/2021/dec/02/what-are-pros-and-cons-of-whole-genome-sequencing-for-every-uk-baby). WGS provides complete information on the DNA of each newborn. No other country, currently does this test on all its neonates. Advocates of the scheme, say it would enable medics to look for around 200 disorders, including a predisposition to develop dementia. WGS is flexible, meaning that new medical issues could be explored. The genetic screening would be done alongside the heel prick test, as WGS can be less efficient than some of the biochemical tests. WGS has a number of disadvantages. The first is cost. WGS costs £1000 per baby or £700m per annum for the UK. A second problem, is that it may produce false positives, especially when it focuses on poorly understood genes. A third problem involves consent. The baby cannot give this, so parents would be asked. Perhaps some young people, when they mature, would decide they didn't want to know, if they were likely to develop a serious medical condition in later life? There is also the serious issue of who 'owns' the WGS data. Lots of people would like to look at it, often for good medical reasons. The government might to tempted to sell WGS data, to partially recoup the costs. Even using anonymised systems, there is a possibility of commercial exploitation by insurance companies etc.

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Birder's Bonus 241

Noted a Curlew ( Numenius arquata ) on the Loughor estuary at Bynea.