NHS Plans to DNA test all babies in England - HUGE implications for TERFs and TRAs!!

[DiamondThrone]

The TRAs already hate Wes Streeting - this is going to make them hate him more.

Imagine the implications -

• No more "assigned sex at birth" nonsense
• No "intersex" nonsense - there will be males with DSDs, and females with DSDs (just as there are now, of course, IRL)
• No clownfish humans
• etc

I wonder if they are planning to let parents opt out of the testing? I haven't read all the coverage yet.

NHS plans to DNA test all babies in England to assess disease risk - BBC News

Of course disease screening would have nothing to do with sex testing and TERFs/TRAs.

Nothing so blindingly obvious could stop TERFs hopping up and down about some imagined sex test though could it 🙄

But wouldn’t it be useful to identify as early as possible all the intersex people who apparently have no idea what sex they are as possible?

Of course disease screening would have nothing to do with sex testing

Wouldn't knowing the sex of the baby help with targeting which babies need to be screened for diseases which only/predominantly affect that sex like Duchennes Musclar Dystrophy or haemophilia?

And what happens to this data once collected? Will it be added to future databases for police evidence etc?

Could you be arrested in 30 years based upon dna taken at birth?

Lots of civil liberties issues here

I would hope police can. It could save future victims if they catch a criminal on the first offense due to dna evidence.

They will still be able to tell the sex of babies just as they can now.

Revolutionary!

Well, yeah, but I was imagining some sort of initial test for sex and then males get the A screening assay and females get the B screening assay ie the sex of the baby is paramount. So the statement "disease screening has nothing to do with sex testing" would be incorrect.

Thank you for your post. Very interesting!

You'd better have a word with the TRAs on Reddit who are hopping up and down, then. Go and be just as patronisng to them!

www.reddit.com/r/transgenderUK/comments/1lgr4qs/oh_ok_thats_how_theyre_going_to_do_it/

The article says "Screening newborn babies for rare diseases will involve sequencing their complete DNA". We are left to assume that the entire screened genome will form part of the record.

This isn't the same as 'any other medical data'. And genome sequencing is not screening, it is potential or actual research. There are of course huge gaps right now about what can be predicted from a genome, but what about when there aren't? Insurance implications, ability to get a job, a mortgage, a life partner, a uni place... and the way a sequenced person views themselves? it's not difficult to imagine realistic dystopia futures where this data, centrally held (or sold) is a hugely disadvantageous.

And screening is not always a good thing! (A drum I feel I keep banging, but screening is so misubderstood, including by medics). Finding something sooner does not necessarily mean a better outcome. Finding an unclear something can result in unnecessary treatment with massive quality of life (or even longevitiy) implications. Knowing you have a BRCA gene mutation for instance is not predictively helpful if you don't have a family history of cancer (please read Suzanne O'Sullivan).

We already have newborn heelprick screening (a good thing as disabling outcomes are then easily preventable). I would be extremely interested to see the detailed analysis of the benefits this new program is expected to bring - it would have to be massive to risk foreclosing these newborn's right to genetic privacy.

My immediate reaction is one of horror. Which overides any possible humour re TRA concerns.

Gene probing is so easy-peasy, I expect they'll just do the entire 200 on every sample, including the sex-specific ones (baby could be a carrier).

They currently test for nine conditions, but not sex, it seems, so that will presumably not change.

I was intrigued by this, and had a look at the NHS website, and they seem to be going out of their way not to detect DSDs via the heel-prick test, even though it would be a cinch to do. I am baffled by this.

They only investigate if the genitals are unusual. They specifically mention that someone with, say, Klinefelters or CAIS could get as far as puberty without anyone knowing. So weird.

What a bizarre thing for the OP to think of first about this whole thing. 😅

‘Chromosomes don't equal sex, there's far too many exceptions to the rule. What happens when they inevitably discover that intersex conditions are actually way more common than they've ever wanted to admit?’ (😂😂)

According to Reddit person. They didn’t provide any evidence for their confident assertion about there being ‘far too many exceptions’, but, quite obviously, none was expected.

What third sex is intersex?

You’re asking the wrong person!

With a full sequence, it can be checked later on for newly discovered diseases as they appear. I wonder what the parents' T&Cs have to say about that....

Or a person with currently unpopular political views?

OK. So the way the technology works is that sections of the genome will be fully sequenced (maybe the whole genome) but this raw unprocessed data will only be stored on a non Internet computer. This data is totally meaningless unless it is heavily processed and then interpreted.
The only bits which will be processed and interpreted are the very tiny sections which will allow for the diagnosis of very severe but treatable diseases. It would take way too long and be way too expensive to process all of the data.

Theoretically someone could break into the lab and hack into the internal network to steal the genetic data but tbh good luck to them because interpretting it is a complete bloody nightmare.

Noone who works in NHS genetics wants to look for or even accidentally find anything on someone's dna which they cannot interpret and trust me there is a load of complicated stuff in there which currently no one has a scoobies about.

The 200 diseases which are being screened for have been very carefully chosen so that they are not mate onset variable conditions but only severe childhood onset things, which must have a viable treatment.

For example phenylketonurea or pku is a genetic disease where you can't process food with pku in. If you eat it, you get severe brain damage and can die. If you never eat it, you will have a totally normal life.

Plus everyone will have an option to opt out of the screening.

I don’t have a problem with this per se, but think it’s a tad over ambitious. Right now, I don’t:
a) trust the NHS to keep the data safe
b) trust the government to build a useable system to manage the data (I’m sure anyone that’s dealt with Capital et al will agree)

Sort out existing data infrastructure first, then it could be a goer.

Thankyou. My concern is not what only they say they will do right now, but future uses. Sequencing (and to a degree interpretation) has become exponentially faster and cheaper, so the argument that no-one will ever want/be able to use the data is, I think, shortsighted.

Pku is part of the heelprick screen - I agree that childhood onset, preventable diseases should be screened for. But I do not believe this is where it will stop, hence my concern about the collection of full genome data. This is a big fat genie, and the escape from its bottle won't be reversible, so the first steps need to be watertight. Glad to hear it will opt-outable, but my faith in informed consent is low given general health and statistical literacy.

How many children will be picked up on the 200 rare-disease screen versus the heelprick? Is this benefit worth all the attendant risks? Is this analysis published somewhere do you know?

Storing on a non-internet enabled device: a) storing on cloud enabled so much more efficient so only a matter of time till this happens b) storing on a physical server in the basement - not secure.

Collect, test, destroy. Only way.

@FinallyASunnyDay all legitimate concerns.

Interpretation is not speeding up. It has ground to a halt because the tech doesn't exist to get enough functional data to interpret dna variants. Currently about 50% of unique variants are uninterpretable and there isn't currently a way round this because the only way to fix it at the moment is to do functional work in cells for each individual change which is found and this is just not feasible. Obviously at some point computers will get good enough to accurately predict the impact of a change on the protein but we are still a long way off that.

I don't have numbers for the heel prick vs genome but I know that part of the process will have been looking at the financial benefits of cost of testing, treatment, identification etc.

I would think thy this should all be accessible somewhere but I am not sure where.

Totally agree with the genie analogy but as a parent of a kid with a genetic disease I am slightly biased towards early diagnosis.

Thanks for that. Surely AI will have its way with interpretation at some point... and don't you think the risk of sequencing ALL babies is precisely to get the data so needed for predictive work? Of course, it will remain immensely complicated and disentangling environment from genome is (currently) unimaginably difficult, but I don't doubt progress will be made... but I am very concerned that these newborn genomes will be food for future research. To which babies cannot consent.

When I'm not on the worlds hottest train I will try and dig up background analysis on this.

Can I ask how an early diagnosis would have changed treatment/therapy/outcome for your child? Would the proposed testing have made a difference? No need to answer if you'd prefer not, of course - just interesting to hear your experience.

Ai wouldn't help at the moment. The problem isn't that we need help with the quantity or the connections of the different things which are found in each genome. It is that we literally have no way to interpret what is being found. I am trying to think of an analogy. I guess it's like discovering a new plant in the jungle. You would need to study it to work out how it interacts with all the other plants and the do lots of tests to find out if could be used as a medicine or something else. That investigation just can't be done on a case by case basis because everyone has several "rare plants" that are unique to them so the quantity of work needed is bonkers.

So sequencing everyone won't help with the predictions. It will just mean we have a really good comprehensive list of rare plants.