NHS plans to DNA test all babies to assess disease risk

[bob sterman]

https://www.bbc.co.uk/news/articles/c1ljg7v0vmpo

The story is a bit vague - but as described this could be a really bad idea.

It sounds like much more than screening for recognised specific single-gene disorders. It sounds like testing for genetic variants that have been found to be associated with the risk of certain conditions. If that's the case - this is certainly not going to reduce "the pressure on NHS services". Quite the opposite.

Instead you're going to have a huge proportion of children labelled as "ill" from birth. Who might never have become ill due to variable penetrance and weak associations between certain variants and disease. Specialised services are going to be overwhelmed with demand for appointments and ongoing reviews.

There is also the worrying psychological impact on children - who will now have to go through life with a "ill" label. And the tendency parents will have to attribute any childhood symptoms of anything to genetic causes.

[Allo V Psycho]

https://www.bbc.co.uk/news/articles/c1ljg7v0vmpo

The story is a bit vague - but as described this could be a really bad idea.

It sounds like much more than screening for recognised specific single-gene disorders. It sounds like testing for genetic variants that have been found to be associated with the risk of certain conditions. If that's the case - this is certainly not going to reduce "the pressure on NHS services". Quite the opposite.

Instead you're going to have a huge proportion of children labelled as "ill" from birth. Who might never have become ill due to variable penetrance and weak associations between certain variants and disease. Specialised services are going to be overwhelmed with demand for appointments and ongoing reviews.

There is also the worrying psychological impact on children - who will now have to go through life with a "ill" label. And the tendency parents will have to attribute any childhood symptoms of anything to genetic causes.

I didn't read it like that - the link in the article
https://www.bbc.com/news/articles/c70z8ppjlddo

refers to single disorders, and I couldn't see a reference to 'associated with risk'. Has the article perhaps been amended? Certainly I think screening for single gene disorders at birth sounds to me like an excellent idea, as opposed to finding out the hard way, as our son did.

[Imrael]

Presumably by limiting it to single gene disorders you avoid the issue of false positives?

[bob sterman]

https://www.bbc.co.uk/news/articles/c1ljg7v0vmpo

The story is a bit vague - but as described this could be a really bad idea.

It sounds like much more than screening for recognised specific single-gene disorders. It sounds like testing for genetic variants that have been found to be associated with the risk of certain conditions. If that's the case - this is certainly not going to reduce "the pressure on NHS services". Quite the opposite.

Instead you're going to have a huge proportion of children labelled as "ill" from birth. Who might never have become ill due to variable penetrance and weak associations between certain variants and disease. Specialised services are going to be overwhelmed with demand for appointments and ongoing reviews.

There is also the worrying psychological impact on children - who will now have to go through life with a "ill" label. And the tendency parents will have to attribute any childhood symptoms of anything to genetic causes.

I didn't read it like that - the link in the article
https://www.bbc.com/news/articles/c70z8ppjlddo

refers to single disorders, and I couldn't see a reference to 'associated with risk'. Has the article perhaps been amended? Certainly I think screening for single gene disorders at birth sounds to me like an excellent idea, as opposed to finding out the hard way, as our son did.

First sentence refers to "risk" and then this...

The Department for Health and Social Care said that genomics - the study of genes - and AI would be used to "revolutionise prevention" and provide faster diagnoses and an "early warning signal for disease".

Even with recognised single gene disorders - the value of screening is going to need careful thought for each one. Many have variable penetrance and variable presentation. So some single gene disorders increase the risk of developing certain problems - but some problems are not inevitable even now.

The paywalled original Telegraph story says this is part of "a long-term strategy to ensure that genomics, artificial intelligence and predictive analytics are used to forecast and avert illness..."