NIPT in the UK: findings

from PhD fieldwork Heather Strange. PhD student, Cesagene,

Cardiff University School of Social

Sciences. StrangeHR1@cardiff.ac.uk

NIPT in the UK:

overview

• RAPID: DoH funded project

building on European funded

SAFE

• Fetal sexing routinely used in

pregnancies at risk of sex linked

conditions

• Single gene disorders:

achondroplasia and

thanatophoric displasia

• UKGTN: approval of tests

•

Study background

• 42 interviews with clinicians,

scientists, patients and parents.

• Wales, the South-West, London.

• Ethnographic data.

• Narrative interviews.

• From NIPD (fetal sex) to NIPT

(Down’s Syndrome).

• Thesis: STS and medical

sociology.

NHS patients and

clinicians

• NIPD for fetal sex (haemophilia and

other X-linked disease, CAH).

• Patients: Positive about test and

potential impact on future

generations.

• Experienced test as routine, just

another part of their (complex) care.

• Intrigued by cffDNA

• Clinicians: positive impact, varying

degrees of trust in technology, some

dissenting voices.

“And when you found out about the

noninvasive, that was during

pregnancy?

Yeah. I was quite impressed about

that- I just think it is amazing how you

can tell the sex of the baby through the

mother’s blood. I didn’t think that the

DNA would be going around- I thought

it was all just in the, in your womb and,

yeah it’s really interesting.

How did it feel when you got the

result?

What when I found out she was a girl?

Oh I was, it felt like a big weight had

been lifted. I was quite worried

because um, like I did say if I had a

boy I probably wouldn’t go through with

the testing. But if it was to actually

happen it might make me think again,

and, yeah”

Private practice:

clinician’s accounts

• (Global) shifting between providers:

cost, accuracy, scope of test.

• Rapid increase in patient numbers:

up to 50% of clinic work (six

months ago).

• NIPT used alongside NT scan.

• Test results as 99.9% accurate,

comparable to CVS.

• Questions around how long amnio

follow up may be required/used.

“One of the things, some women that are

over the age of 35, they are classed as

high risk anyway and are being seen by

consultants, we are having quite a few that

are coming in saying their consultant told

them about this test, whereas they would

have automatically been offered an amnio

otherwise. And that’s really interesting

that they are coming in as a sort of

alternative there. And they feel that

instead of being put into this high risk old

mum bracket, they are having a normal,

it’s a normal pregnancy... They are

picking the screening rather than having a

diagnostic test- they have maybe waited

so long they just feel that would be

enough. And the NHS are accepting that

as good enough as well, they are not

saying well no it’s not a good enough test

you need to have an amnio, they are

almost working in, in unison.

Private practice: patient’s accounts

“How do you feel about the accuracy?

Yeah I mean frankly, you can’t beat sort of ninety

nine point nine, and I think that in anyone’s mind

you would feel massively um, reassured by that.

You and I both know you are never going to get

one hundred percent with anything, frankly. So

ninety nine point nine really is as good as you are

going to get it. So I think as soon as I found that

out, that it was ninety nine point nine, then

absolutely that gave me the confidence in the

results really. But yeah I didn’t have any issues

with that at all. Because like I said, you know, it

doesn’t get much better than that”

“I think nowadays its not so much what

you know as who you know really. As I

say if it wasn’t for her then I probably

wouldn’t have found out about it. Which

brings me back to the point from before,

which is you know, I don’t necessarily

think that it is commonly known really. But

of course I work in a very large office full

of women, so of course they all know

about it now, they think it is fantastic”

Private practice:

patient’s accounts

• NIPT results: ‘as good as you are going to get’;

‘pretty much a yes or no’.

• Demographics: economically and

educationally/professionally advantaged.

• Social life of the test: word-of-mouth, online

forums and clinical info.

• NIPT as investment in ‘peace of mind’.

• Used alongside NT scan: ‘halfway there already’

• NIFTY insurance offer: persuasive, reassuring.

• Fetal sex: ‘nice to find out’

• Some ambiguity over results: ‘you have to believe

what you are told’

Practical issues?

• Extremely high (but not perfect) accuracy:

patients who receive ‘screen positive’ may

experience test as reassuring enough to

seek termination before undergoing

confirmatory amnio/CVS.

• Possible that patients may seek

termination for fetal sex after receiving test

result.

• Possible that patients may seek

termination after test identifies (non)

paternity.

• Clinicians faced with task of providing pre-

and post-test counselling for genomic test

results.

• Two tier system? Elitist test?

Thankyou: research participants.

Adam Hedgecoe; Joanna

Latimer; Ruth Chadwick.