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Where is the democratic debate on this? Pretty clear that 'the people' have very little say on matters of enormous importance - we are instead provided with a

Where is the democratic debate on this? Pretty clear that 'the people' have very little say on matters of enormous importance - we are instead provided with a ritual once every 4-5 years to select from a slate of pre-packaged options and then told we're free

eesmith 4y ago
As I read it, the HN title is an incorrect summary. The title is "Launch of the Newborn Genomes Programme" and the text says it's for information gathering, not for actual sequencing: > Genomics England is to receive funding from the government to gather data and evidence on the effectiveness, and potential ways of implementing, whole genome sequencing to find and treat rare genetic diseases in babies. ... Since 2021, Genomics England has been co-designing this NHS embedded research study which will build on the UK’s strengths in genomic infrastructure and expertise to determine whether, and how, sequencing should be implemented in newborns. It's kind of hard to have a full democratic debate without information, yes? The linked-to "expert reaction to launch of the newborn whole genome sequencing pilot programme" shows some of the existing debate. I think you would like the comment of Prof Angus Clarke, Clinical Professor, Institute of Cancer & Genetics at Cardiff University, which includes: > “This debate should be happening openly and publicly, with a decision made after that rather than it being imposed from above, as seems to be habitual for NHSE and GEL policies. ... > 3) “Unfortunately, the pilot programme of NS by WGS that is being launched is a pilot for the lab aspects and the bioinformatics; it is not in any sense a pilot of how the programme would operate if it came in as standard across the NHS. ... > 5) To place such extra demands on the NHS just now, when the NHS is failing more and more blatantly to cope with the demands it already faces, would be clearly unprofessional and wrong. Yeah, I agree that it feels like it's a "look at all the cool analysis we can do with this data."

eesmith 4y ago

As I read it, the HN title is an incorrect summary. The title is "Launch of the Newborn Genomes Programme" and the text says it's for information gathering, not for actual sequencing: > Genomics England is to receive funding from the government to gather data and evidence on the effectiveness, and potential ways of implementing, whole genome sequencing to find and treat rare genetic diseases in babies. ... Since 2021, Genomics England has been co-designing this NHS embedded research study which will build on the UK’s strengths in genomic infrastructure and expertise to determine whether, and how, sequencing should be implemented in newborns. It's kind of hard to have a full democratic debate without information, yes? The linked-to "expert reaction to launch of the newborn whole genome sequencing pilot programme" shows some of the existing debate. I think you would like the comment of Prof Angus Clarke, Clinical Professor, Institute of Cancer & Genetics at Cardiff University, which includes: > “This debate should be happening openly and publicly, with a decision made after that rather than it being imposed from above, as seems to be habitual for NHSE and GEL policies. ... > 3) “Unfortunately, the pilot programme of NS by WGS that is being launched is a pilot for the lab aspects and the bioinformatics; it is not in any sense a pilot of how the programme would operate if it came in as standard across the NHS. ... > 5) To place such extra demands on the NHS just now, when the NHS is failing more and more blatantly to cope with the demands it already faces, would be clearly unprofessional and wrong. Yeah, I agree that it feels like it's a "look at all the cool analysis we can do with this data."