Newborn DNA testing as standard by NHS England

[CarraghInish]

This sounds incredible, like the start of a totally new era in healthcare. And also a bit science fictiony.

Genome sequencing as standard using blood samples from the umbilical cord to analyse the risk of diseases and move towards preventative treatments.

There was a thread recently about the possible future uses of AI in healthcare and research. This sounds like it is only around the corner now. Is this exciting? Is this scary? Like a way to build a database of how to eliminate the UK population using targeted germ warfare, after super hackers have stolen all the DNA coding and sold it to the highest bidder?

Kidding. I think…

I'm not sure how it would help those born with gene mutations that mark them out as being at high risk of some diseases, for which there is no cure. And we all know that NHS data breaches are highly likely. Also, how would it affect that person's future regarding insurance, employment, and so on?

Anyone seen the film Gattaca?

Gattaca (1997) - IMDb

It’s coming. As is a lot of disappointment from non-dads. Who owns the results?

Until science has developed more cures or there affordable treatments on the NHS I'm not sure as a parent I would necessarily want to know.
Many of the things picked up may be rare disorders which currently struggle with funding so this compounds these issues in my eyes.

I’m excited to see a thread on this. I twas reading up on the Generation Study the other day. So genome sequencing is already been done for newborns at some hospitals as an opt in trial/study. https://www.generationstudy.co.uk/overview-of-the-study

id be interested to hear if anyone here has said yes, or said no and why? I totally get the benefits but it’s also an ethical minefield. Or the potential to anyway. So I believe they only test for 200 specific conditions but obviously the sample has the ability to look at a lot more. I have no idea when they do the sequencing if they see results for other stuff and don’t report it or not.

ive had my whole genome sequenced which was really interesting. Report was about 60 pages long telling me in great detail about my raised risks for various conditions. I have actually been diagnosed with something following the test results. So for me it was good because I can now be monitored/start treatment.

dd has also had whole genome sequencing done on the nhs and hers came back “normal”. She hasn’t seen her whole report, just had a letter from her haematologist saying nothing of concern, etc. which is probably better than seeing your whole report to be honest.

I’m torn. Would people sit around waiting for a diagnosis that may never come? Maybe I am biased as someone who has had cancer relatively young (early 30s), but in many ways I’m glad I never saw it coming and I lived my life how I wanted and with the ignorance of thinking I would live to old age.

It doesn’t look at parentage.

What could possibly go wrong?

For a lot of these conditions there is treatment available. Very recently the nhs gave someone a one of injection at a cost of £2.6 million to “cure” him of haemophilia. It was genomic medicine which made this advance in treatment possible. The more research there is into stuff then the more treatments and cures become available.

What about insurance, people may end up paying loads or not being able to get it for something that may be fairly benign that they otherwise wouldn't know about

First step to creating a full DNA database. It has so many applications, tracing fathers, criminal checks. What could possibly go wrong

Sounds like a eugenicist’s dream.

Is this the first steps in having a national ID database but by the back door?

Who owns the samples and what happens to them after the explorations?

I've got nothing to hide so not alarmed but I suspect the Civil Liberties people might have something to say.

This is considered the principles of the generation study when they decided which conditions to screen for.

Conditions screened for are only those for which
the interventions are equitably accessible for all.

Early or pre-symptomatic intervention for the
condition has been shown to lead to substantially
improved outcomes in children, compared to
intervention after the onset of symptoms.

Thats certainly something to consider. Also stuff like being turned down for a mortgage. My genome sequencing was done privately and not linked or traceable by the nhs. So I could deny anything if necessary 😁

but Dd had hers done on the nhs and it was something her consultant discussed with her.

This will always be optional, and there will be the right for the baby to have their data deleted when they are 18.

Currently only 200 diseases are reported these are the ones that there are effective treatments for. There are many more illnesses that could be identified, but with no treatment, it would just mean families worrying for longer.

See I am the other side of that coin. I also had cancer young and I now know I have a gene that made it more likely. It’s not a high enough risk that nhs would have offered preventatitve masectomy but the nhs has JUST decided to reduce the age of screening for those with this gene down to 30. If I’d been screen maybe they would have caught it early enough that I wouldn’t have needed chemo and 10 years of hormone treatment. I definitely wouldn’t have been on the contraceptive pill for 20 years if I knew it was higher risk for me.

It’s interesting really because my gut says test and inform for those things we can act on. But where’s the line there? Heart attacks cancers and dementia can all be reduced but not eliminated by a healthy lifestyle but we already know that does is living your whole life knowing you have increased risk of dementia just so you know you should eat your greens worth it?

It couldn't really, since in most cases you'd need the father/putative fathers DNA and they won't necessarily be willing to consent. I know there'll be some with impossible blood groups and the like where it emerges that way.

There are lots that have much better outcomes if identified early. Many start with symptoms and take a long time to diagnose due to being so rare. There have been various stories of severely disabled children with difficult lives that could have had much better input and symptom prevention with this sort of information so early on.

I am 100% for this.

Someone I know paid privately for extensive genome testing in America for her disabled 5 year old and learned it was a fully preventable disease, if she'd been tested at birth and put on the right treatment plan she wouldn't have a disability at all. As it was, my friend was able to put a stop to the degenerative illness her daughter has so it won't get worse but is still grieving. She has been extremely active in her campaigning for this the past 7 years.

I thought there was already dna testing at birth for a few treatable conditions like phenyl ketone urea. And this will just extend things to more conditions. Maybe spinal muscular atrophy too? With these rare genetic diseases, if you can start treatment early then you can prevent lifelong damage.

I'm in a bit of two minds about it

I do have a genetic condition I was tested at 22 for it. Although I was emotionally ready to do the test I wasn't mature enough to act on those results in terms of preventative surgery etc. Had I known about it at 16 which some of these conditions are revealed at if the child wants to know I'm not sure how I would have handled it.

However I see the positives of childhood conditions. If a parent knows their child has a life limiting condition that starts showing symptoms at say 8/9 then they are for armed. They can look at drug therapy if there is any to slow the progression or make financial plans for care requirements in the coming years. Or even make as many memories as possible whilst that child has a normal life etc.

I do have concerns about the holding of that genetic data. I recently turned down giving a blood sample for some research. I read up on the research company and my sample would be tested abroad and it just didn't sit right.

They're dreaming. With what money? It would take an absolute sea change for the NHS to start being able to operate based on prevention rather than the current system of generwlly waiting until there's no choice but to deal with the issue.

@aodirjjd CHEK possibly?
I have similar but screening was done from 30 (my cancer was found on MRI at 33). I'm pleased they've lowered it for your mutation. MRI possibly saved my life, big dense breasts meant my tumour was never felt by me right up to experienced consultants. I dread to think how much longer it would have sat there being undetected.

I am shocked that the BBC article makes no mention of the ethics of this. Newborn babies cannot consent.

Not to say the risk of overdiagnosis and overtreatment. So much to say on that but my jaw is dislocated from falling open.

I agree with Wes on many things he is doing in the health service but this is a dystopian ethical nightmare. No, no, no, no.