Biotechnology Company seeks to profit from search-and-destroy technology for babies with Down’s syndrome

The government yesterday approved a new test for pregnant women that will make it much easier to detect and destroy babies with Down's Syndrome (DS) (see previous CMF blog posts here, here, here and here).

According to the BBC, the non-invasive prenatal test (NIPT) will be rolled out by the NHS from 2018.

NIPT involves taking a sample of blood from the pregnant woman which is then examined for abnormal fetal DNA. It is called 'non-invasive' because it doesn't involve 'invading' the mother's womb. It therefore carries no risk of miscarrying a 'normal' pregnancy.

It is claimed that NIPT will cut the number of women who need invasive tests like amniocentesis and chorion villus biopsy, which carry a 1-2% risk of miscarriage.

The move to make NIPT available on the NHS is extremely controversial and has led to the launch of the ‘Don’t screen us out’ campaign (DSUO). DSUO describes itself ‘as a grass-roots initiative supported by a collection of people with Down’s syndrome, families and Down’s Syndrome advocate groups led by Saving Downs Syndrome’.

They say that, given the fact that 90% of babies who are prenatally diagnosed with Down’s syndrome are currently aborted, the result will be ‘a profound increase in the number of children with Down’s syndrome screened out by termination’. 

A new study published in the British Medical Journal on 4 July 2016 backs up their concerns. 

The lead author professor Lyn Chitty and her colleagues calculate that in an annual UK screening population of 698,500, offering NIPT (as a contingent test to women with a Down’s syndrome screening risk of at least 1/150) would increase detection by 195 cases with 3,368 fewer invasive tests but, crucially, only 17 fewer procedure related miscarriages.

If rolling out NIPT will result in 195 more babies with Down’s syndrome being detected, then assuming that 90% will then be aborted (the standard quoted figure), that means almost 180 more abortions for Down’s syndrome each year.

Most people are unaware that abortion is legal in Britain right up until birth for babies with disabilities. Last year a record number of 230 babies with special needs were aborted beyond 24 weeks, the age at which most will survive in a neonatal unit if born prematurely.

In total last year there were 3,213 babies with disabilities aborted in this country, over 1,000 of them more than halfway through pregnancy. 689 of these had Down’s syndrome. 11 had cleft lip or palate. 

Sally Phillips drew attention to the issue dramatically in a BBC documentary ‘A World Without Down’s Syndrome’, which aired on 5 October. ‘What’s so dreadful, to the world, about Down’s syndrome? she asked. The Bridget Jones actress, who has a son with the condition, questioned the ethics of pregnancy screening and abortion and asked why affected babies are viewed as a ‘burden’ in society. The programme understandably prompted fierce debate. 

On Friday 21 October, Lord Shinkwin’s Abortion (Disability Equality) Bill had its second reading in the House of Lords. Lord Shinkwin (pictured below) is arguing that the current situation is profoundly discriminatory - eugenic even.  He wants to remove ‘ground E’ (1(1)(d)), which enables any baby with a significant risk of a serious abnormality to be aborted, from the Abortion Act altogether. 

At the weekend, 279 medical professionals signed a letter accusing the Royal College of Obstetricians and Gynaecologists (RCOG) of 'advocating that women with a prenatal diagnosis of Down's syndrome should end their pregnancy'. They said: 'We utterly reject the implicit premise that the value of a human being is based on their economic contribution to society.' (see full text here)

The move to introduce NIPT into the NHS is also backed by powerful commercial interests.

In March 2015 the St George’s University Hospitals NHS Foundation Trust revealed that it was joining forces with the British firm, Premaitha Health to bring in this new screening test. Premaitha, which describes the test (marketed as ‘Iona’) as its ‘flagship product’, along with its shareholders, now stands to make a lot of money. Millions of pounds in fact. Each NIPT test costs between £400 and £900 pounds. Do the maths!

Premaitha admitted this much in a press release earlier this year: 'Premaitha anticipates that the endorsement by the NHS will accelerate private payer market growth in the UK'. More importantly, it will put them in pole position to pitch for NHS hospital tenders. 

On 27 October at its AGM the company was even bolder. Non-executive Chairman Adam Reynolds, claimed that ‘the international landscape for non-invasive prenatal testing is evolving very considerably in Premaitha’s favour’. He added that the company was ‘exceptionally well placed to win significant market share as awareness of the availability of NIPT increases’.

In the light of all this, people may be surprised to hear that Premaitha’s share price rose by only 10.81% today to 10.25p. This is in spite of brokers Finn Cap and Panmure Gordon having target prices of 20p and 24p respectively on the stock.

But in an ironic twist, enthusiasm for buying the shares has been curbed by unresolved legal action. US biotechnology giant Illumina has launched patent infringement proceedings against Premaitha and others.

Nevertheless Premaitha has ‘absolutely no doubt that the developed world is moving’ towards ‘widescale adoption of NIPT’ and that it ‘is well placed to gain a large share of the market’.

So here we have it – a global drama involving pregnant women anxious about having disabled children, campaigners concerned about the eradication of people with disabilities, millions of pounds of taxpayers' money up for grabs, biotechnology companies hungry for profits and salivating shareholders seeking a quick buck.

But, caught in this toxic web of vested interests, the real victims in this whole drama are babies with a common genetic abnormality whose eradication will lift a perceived burden from some and make others very rich indeed.

The real test of an administration is in what it values – and in particular how it treats the most vulnerable members of society, especially when it costs something emotionally and financially to do so.

The British government, by this reckoning, is not heading in a good direction. Nor are biotech companies and their shareholders who are keen to profit from the search and destroy conveyor belt.

But disabled people and their families will not go quietly and I suspect we have not heard the last of this yet.  

Is Professor Basky Thilaganathan deliberately misleading parliament over the results of NIPT for Down’s syndrome?

Here's a new story involving disabled people, taxpayers' money, apparent scientific deception, a biotechnology company looking for profits and the NHS.

The NHS is close to introducing a new test for pregnant women that will make it much easier to detect and search out any babies with Down's Syndrome (DS) (see previous CMF blog posts here and here).

Jeremy Hunt, the Health Secretary, is expected to respond to a recommendation from the National Screening Committee for the roll-out of non-invasive prenatal testing (NIPT) any time now. NIPT involves taking a sample of blood from the pregnant woman which is then examined for abnormal fetal DNA. It is called 'non-invasive' because it doesn't involve 'invading' the mother's womb, as chorion villus screening and amniocentesis do. It therefore carries no risk of miscarrying a 'normal' pregnancy.

The Nuffield Council of Bioethics is also expected to publish a report on the new technology this autumn (see CMF's submissions to both Nuffield and the UK National Screening Committee).

The move to make NIPT available on the NHS is extremely controversial and has led to the launch of the ‘Don’t screen us out’ campaign (DSUO). DSUO describes itself ‘as a grass-roots initiative supported by a collection of people with Down’s syndrome, families and Down’s Syndrome advocate groups led by Saving Downs Syndrome’.

They argue that the result will be ‘a profound increase in the number of children with Down’s syndrome screened out by termination’.

They say that, given the fact that 90% of babies who are prenatally diagnosed with Down’s syndrome are currently aborted, making the test available on the NHS is projected to lead to 92 more babies with Down’s syndrome being aborted each year (90% of the 102 more children with Down’s syndrome who would be detected annually by NIPT according to the National Institute for Health and Research RAPID evaluation study  projections).

The same RAPID study also predicts that 25 miscarriages would be prevented by implementation of the technology because fewer women would go on to undergo more invasive chorion villus sampling (CVS ) or amniocentesis in order to diagnose the condition. So it is a trade-off of 25 'normal' babies saved for 92 babies with Down's syndrome aborted.

Don’t Screen us Out have launched an open letter to Jeremy Hunt demanding that his department stop ignoring the concerns of people with Down’s syndrome, their families and the wider community and start consulting them on the proposals. But thus far the health minister has not responded.

The move to introduce NIPT into the NHS is backed by powerful commercial interests. In March 2015 the St George’s University Hospitals NHS Foundation Trust revealed that it was joining forces with the British firm, Premaitha Health to bring in this new screening test. Clearly, if the health secretary gives the green light to pay for this new test to be rolled out on the NHS, then Premaitha, which describes the test as its ‘flagship product’, along with its shareholders, stands to make a lot of money. Millions in fact.

Premaitha admitted this much in a press release earlier this year: 'Premaitha anticipates that the endorsement by the NHS will accelerate private payer market growth in the UK'. More importantly, it will put them in pole position to pitch for NHS hospital tenders. 

Understandably, St Georges, which has a commercial relationship with Premaitha, is defending the test. Earlier this summer, Professor Basky Thilaganathan (pictured), head of the fetal medicine unit at the trust, said: ‘NIPT screening is an absolute sea change in how we have been doing things in the last 50 years. It has the potential to virtually eradicate invasive testing.’

According to the Evening Standard on 12 August, he dismissed claims from DSUO that extending the test would lead to an increase in abortions and claimed that more than 300 miscarriages a year could be prevented if the NIPT (non-invasive prenatal test) was used across the NHS. 

But DSUO have been questioning the evidence for his claims. And a new study published in the British Medical Journal on 4 July 2016 backs up their concerns.

The new BMJ study evaluates the outcomes and costs of implementing NIPT for Down’s syndrome into NHS maternity care and covers eight diverse maternity units. The lead author is Lyn Chitty, Professor of Genetics and Genomic Medicine, UCL Institute of Child Health, London.

Chitty and her colleagues calculate that in an annual screening population of 698,500, offering NIPT (as a contingent test to women with a Down’s syndrome screening risk of at least 1/150) would increase detection by 195 cases with 3,368 fewer invasive tests and, crucially, only 17 fewer procedure related miscarriages (not 300!).

Chitty’s projected decrease in miscarriages (17) is very close to the figure given by the RAPID study (25), and the difference is not statistically significant. But both figures are a far cry from Basky Thilaganathan’s 300, a number almost 20 times higher.

Furthermore, if rolling out NIPT will result in 195 more babies with Down’s syndrome being detected (Chitty), then assuming that 90% will then be aborted (the standard quoted figure), that means almost 180 more abortions for Down’s syndrome each year. Even if the percentage is only ~70% going on to abort, as Chitty suggests for the group having NIPT, we are still talking about over 130 more abortions each year of these affected babies.

DSUO argue that this does harm to babies with Down’s syndrome and the Down’s syndrome community, violates the Convention of the rights of persons with disabilities and enables eugenic discrimination. These are strong charges.

It is quite extraordinary, in the face of the facts just presented, that Prof Thilaganathan can both deny that the test will result in more deaths of babies with Down’s syndrome, and claim that the miscarriages prevented will be almost 20 times higher than the RAPID and Chitty studies predict.

Does he know something we don’t, or is he deliberately misleading the public and parliament in order to advance an ideological and commercial agenda?

The burden of proof is upon Thilaganathan and St Georges to reveal the scientific evidence supporting his claims, or if there actually isn’t any, publically to apologise to DSUO, the public, people with Down’s syndrome and their families and parliament itself for telling lies. 

At very least these latest developments should lead Jeremy Hunt to reflect more on the concerns raised by DSUO and the communities of Down's syndrome families they represent before deciding to invest scarce health service resources on this new venture. More questions need answering and more public scrutiny is required.

Meanwhile I'll be taking a closer look at some of the commercial interests and ideological drivers behind the scenes driving these new tests. Watch this space.