New genetic test brings prenatal eugenics one further step closer

Last August I blogged about a new pre-natal screening test that makes eliminating all people with genetic disease an achievable reality.

I said at the time that this test may mean that every pregnant woman will have a simple blood test at an early stage in pregnancy and offered an abortion if their baby carries any genes (including a female chromosome!) that they find undesirable.

Cell-free fetal DNA is DNA from the baby that has crossed the placenta into the mother’s blood. It makes up about 10% of all free DNA in the maternal blood and can now be examined to determine the baby’s sex and what genetic disorders it carries.

Today the BBC reports on new US research where a ‘blood sample from mum and saliva from dad’ were used to sequence the genome of an 18 week unborn baby using just this technology.

The doctors have said that the findings, reported in Science Translational Medicine, could eventually lead to foetuses being screened for more than 3,000 single-gene disorders through a single, non-invasive test.

The Abortion Act 1967 currently allows abortion up until birth where there is a ‘substantial risk’ or a ‘serious handicap’ – so-called ground E - but this is currently interpreted very liberally indeed.

Last year (see table 9) 146 babies ground E abortions were carried out after 24 weeks, the accepted age of viability, after which there must be such a serious risk for an abortion to be legal if the mother is not in danger.

But, overall in 2011, 2,307 babies were aborted under ground E including 512 with Down’s syndrome, 144 with spina bifida, 157 with a family history of heritable disorder and 4 with cleft lip and palate.

Between 2002 and 2011 there were 20,290 ground E abortions, the overwhelming majority of which were for conditions compatible with life outside the womb.

Of these, a total of 1,335 babies were aborted after 24 weeks.

The figures are a chilling testimony to a growing eugenic mindset in Britain, where babies with disabilities are eradicated before birth so as not to place a burden on families, society or the health service.

And yet these 20,000 abortions constitute only a fraction (1%) of the over seven million there have been in the UK since the Abortion Act was passed in 1967.

It is at the very heart of Christian teaching that human beings have value not because of any ‘intrinsic’ qualities they may possess, but for two main ‘extrinsic’ reasons. First, that they are made in the image of God for an eternal relationship with him, and second because God himself became a human being in the person of Jesus Christ and thereby bestowed unique dignity on the human race.

If we follow that view through to its logical conclusion it leads us to say that any human being, regardless of its age, appearance, degree of deformity or mental capacity, is worthy of the highest possible degree of protection, empathy, wonder and respect.

Our society’s increasing obsession with celebrity status, physical perfection and high intelligence fuels the view that the lives of people with disabilities or genetic diseases are somehow less worth living.

By contrast the Christian view is that the life of every human individual, regardless of its intelligence, beauty, state of health or degree of disability is infinitely precious. A just and caring society is one where the strong make sacrifices for the weak, or in the words of the Apostle Paul, ‘bear one another’s burdens, and so fulfil the law of Christ’ (Galatians 6:2).

Let’s recognise and resist the eugenic mindset. Our priorities should be to develop treatments and supportive measures for those with genetic disease along with support for their families; not to search them out and destroy them before birth.

Guest Post - Dr Shane McKee fights back on PGD

Last night I posted a blog with the rather provocative title 'Geneticist claims that weeding out embryos with severe genetic abnormalities is "a tremendous blessing and a wonderful thing"'.

It featured consultant geneticist Dr Shane McKee's recent 4thought interview on pre-implantation genetic diagnosis.

Shane (pictured) is a consultant geneticist and self-styled 'Christian Atheist' in Northern Ireland with whom I frequently spar on twitter. One of our previous twitter dialogues (twebates) is available on this site.

Today Shane asked me if I would post his email reply on this blog which I happily do. I have agreed not to reply yet....

Dr Shane McKee replies

When did I say I supported abortion up to 40 weeks? I do not "support abortion" - I recognise that there are circumstances in which a family may decide that the best course of action is not to continue with, or initiate, a pregnancy that will result in a child with a devastating congenital disorder.

For you to bring Klinefelter and XYY etc into the mix just shows your ignorance of paediatrics and genetics. You can leave your childish blog post up there unaltered if you wish; it says a lot more about you than it does about me or my medical colleagues, who are trying to help families faced with terrifying prospects and agonising decisions. These people are real, and they mean a lot more to me than you, with your blinkers, can ever appreciate.

And, yes, if you needed a kidney, I would still give you one. But if I had 100 8 cell embryos, I would unhesitatingly disaggregate them and genetically re-engineer them or whatever in order to, say, treat a child with Duchenne Muscular Dystrophy, or a young mother with Huntington's Disease.

Because an embryo is not the same as a person; it is not a "disabled individual"; it is not a "person". An acorn is not an oak tree. A map is not a journey, nor is it the destination.

So I dare ya. If you have an ethical atom in your brain (for it is in the function of that tiny organ that your humanity - which I fully acknowledge - resides), post THIS email as a post on your blog. Don't add your little italic comments - leave it for your readership to do that in the thread below. You can start to respond after 5 comments.

Are you man enough to do that?

Hospital kills ‘wrong’ twin in selective abortion – both babies now dead

Children with special needs can be a great challenge to care for but a tragic story from Australia this week demonstrates that the search for the perfect child can have devastating consequences.

Steven Ertelt in Melbourne relates the story on Life Site News (see also BBC)

A hospital in Australia is making news for having killed the ‘wrong’ twin in a selective abortion. The mother of the two babies had wanted to abort the baby who doctors said had little chance to live. But now, both babies are dead.

The Herald Sun newspaper reports that the unnamed woman from Victoria had already named her unborn children when doctors told her one of the unborn babies had a congenital heart defect that would require years of operations, assuming the baby survived long enough to have them.

The mother decided to have an abortion, terminating the life of one of her unborn children and allowing the other baby to live.

The newspaper indicates an ultrasound technician checked on the healthy baby before the abortion and determined that the child was in a separate amniotic sac from its sibling. However, the abortion, which took place last Tuesday afternoon, went awry and the wrong baby was injected with drugs meant to end his or her life.

After the mother was informed of the error, doctors did an emergency Cesarean section and the sick unborn baby was 'terminated' in a three-hour operation, the newspaper indicates.

A friend of the mother told the newspaper she is having a difficult time following the error.

“She went to the hospital with two babies and now she has none. And she had the heartache of giving birth to her sick baby. She’s traumatized,’ she said. ‘The hospital said it had followed correct procedure, but how could this happen? The ultrasound clinician said she checked three times before the termination because she didn’t want to make a mistake.’

The newspaper indicates the family is considering legal action.

Ertelt goes on to relate the stories of other similar cases around the world.

The story graphically illustrates the grim reality of the ‘search and destroy’ approach to unborn babies with special needs. Such procedures are now very common although very few involve twins.

It is interesting that the killing of an ‘unwanted’ child with special needs in the womb is regarded as ‘normal’ whilst the killing of a ‘wanted’ normal child is seen as a tragedy and worthy of international news coverage.

And yet if the ‘abnormal’ baby had actually been born, doctors would presumably have done everything possible to provide what treatment or care they could. After all the twins were at 32 weeks gestation, 8 weeks past the accepted threshold of viability. Instead however they ensured that it was not born alive by 'terminating it'.

Of course if the second ‘normal’ child had also been ‘unwanted’ then the story would not have warranted a mention. Abortion of ‘unwanted’ ‘normal’ babies takes place over 40 million times every year around the world.

The British Abortion Act 1967 currently allows abortion up until birth where there is a ‘substantial risk’ or a ‘serious handicap’ – so-called ground E - but this is currently interpreted very liberally indeed.

As I blogged previously, recently revealed statistics showed that between 2002 and 2010 there were 17,983 abortions in this category. The overwhelming majority of these were for conditions compatible with life outside the womb and 1,189 babies were aborted after 24 weeks, the accepted age of viability.

The 17,983 included 26 for babies with cleft lips or palates and another 27 with ‘congenital malformations of the ear, eye, face or neck’, which can include problems such as having glaucoma or being born with an ear missing.

Over the period 2002-2010 there were altogether 3,968 Down’s syndrome babies aborted and now 95% of all babies found to have Down’s syndrome before birth have their lives ended in this way.

Our society’s increasing obsession with celebrity status, physical perfection and high intelligence fuels the view that the lives of people with disabilities or genetic diseases are somehow less worth living.

By contrast the Christian view is that the life of every human individual, regardless of its intelligence, beauty, state of health or degree of disability is infinitely precious. A just and caring society is one where the strong make sacrifices for the weak, or in the words of the Apostle Paul, ‘bear one another’s burdens, and so fulfil the law of Christ’ (Galatians 6:2).

This story is a stark warning to recognise and resist the eugenic mindset. Our priorities should be to develop treatments and supportive measures for those with genetic disease; not to search them out and destroy them before birth.

Tragically, if this woman had not sought to intervene both her babies would probably still be alive, one needing further treatment and one not.

New pre-natal screening test makes eliminating all people with genetic disease an achievable reality

‘Fetal DNA tests: Are we finally entering an era of eugenics?’ This was the question raised by Nancy Fliesler on the Vector blog last January.

As an Ashkenazi Jew planning to have a baby, Fliesler sought prenatal screening for Tay-Sachs disease, an incurable and lethal condition.

But she asks, ‘What about diseases that don’t severely limit lifespan and aren’t that disabling?’

What should we screen for? Down’s syndrome? Genes associated with bowel or breast cancer? X chromosomes? Where do we draw the line?

Up until now prenatal screening for genetic abnormalities has been carried out using amniocentesis or chorion villus biopsy at eight and twenty weeks gestation respectively. But both tests are invasive carry a risk of miscarriage. Consequently only women at high risk get screened.

Now, however, there is a new non-invasive test that is highly accurate for screening babies early in the first third of pregnancy.

Cell-free fetal DNA is DNA from the baby that has crossed the placenta into the mother’s blood. It makes up about 10% of all free DNA in the maternal blood and can now be examined to determine the baby’s sex and what genetic disorders it carries. It is extremely accurate but currently expensive. However the cost is expected to come down very rapidly in the near future.

This test may mean that every pregnant woman will in the future be tested at an early stage in pregnancy and offered an abortion if their baby carries any genes (including a female chromosome!) that they find undesirable.

The Abortion Act 1967 currently allows abortion up until birth where there is a ‘substantial risk’ or a ‘serious handicap’ – so-called ground E - but this is currently interpreted very liberally indeed.

As I blogged in July, recently revealed statistics showed that between 2002 and 2010 there were 17,983 abortions in this category. The overwhelming majority of these were for conditions compatible with life outside the womb and 1,189 babies were aborted after 24 weeks, the accepted age of viability.

The 17,983 included 26 for babies with cleft lips or palates and another 27 with ‘congenital malformations of the ear, eye, face or neck’, which can include problems such as having glaucoma or being born with an ear missing.

Over the period 2002-2010 there were altogether 3,968 Down’s syndrome babies aborted and now 95% of all babies found to have Down’s syndrome before birth have their lives ended in this way.

As reported recently, fetal DNA blood tests to determine the baby’s gender are already sold privately in the UK and other countries and are extremely accurate fuelling concerns about further sex-selection abortions.

A recent review published in the Journal of the American Medical Association (JAMA), which looked at 57 studies representing 6,541 pregnancies, found that the blood tests gave a genuine result (sensitivity) 95% of the time and that this result was accurate or correct for gender (specificity) 98.6% of the time.

Research last December showed that the entire fetal genome (ie every gene of the baby) can now be identified from the maternal blood using technology already available. So if the price were to come down with further advance the potential is there to identify every baby with a genetic abnormality before birth.

The Sunday Times last weekend quoted a BMJ study saying that fetal DNA tests for Down’s syndrome were 98% accurate and adding that ‘it will be offered initially to parents with private medical cover and others who can afford a fee of £350’. The article claimed that it is also being evaluated for introduction by the NHS in about three years’ time.

The Human Genetics Commission (HGC), a government advisory committee, has already given the green light to preconception genetic tests saying that there are no specific ‘social, ethical or legal’ reasons that stand in the way. The UK National Screening Committee will now consider this advice as it decides whether widespread screening should be introduced in GP surgeries, family planning centres, IVF clinics or pharmacies.

So the only barrier remaining is cost. However, increasingly now, we hear, particularly at a time of economic recession and financial constraint, about the cost of caring for those with disabilities or disease. Cost saving works both ways.

But in reality, because of the very low frequency of genetic disease, the actual cost of prevention, treatment or cure as a percentage of the total health budget is very small indeed.

Furthermore, new preventions, treatments and supportive measures are being developed all the time. In the past PKU universally led to serious brain damage but can now be successfully managed with the right diet after detection. People with cystic fibrosis are living much longer and have a better quality of life as a result of advances in medical technology and palliative care.

Our society’s increasing obsession with celebrity status, physical perfection and high intelligence fuels the view that the lives of people with disabilities or genetic diseases are somehow less worth living.

By contrast the Christian view is that the life of every human individual, regardless of its intelligence, beauty, state of health or degree of disability is infinitely precious. A just and caring society is one where the strong make sacrifices for the weak, or in the words of the Apostle Paul, ‘bear one another’s burdens, and so fulfil the law of Christ’ (Galatians 6:2).

Let’s recognise and resist the eugenic mindset. Our priorities should be to develop treatments and supportive measures for those with genetic disease; not to search them out and destroy them before birth.

New genetic screening plans raise serious questions about our attitudes to disability

The Human Genetics Commission (HGC), a government advisory committee, has given the green light to preconception genetic tests saying that there are no specific ‘social, ethical or legal’ reasons that stand in the way. The UK National Screening Committee will now consider this advice as it decides whether widespread screening should be introduced in GP surgeries, family planning centres, IVF clinics or pharmacies.

Screening of embryos and babies in the womb for genetic tests is now increasingly commonplace in Britain. If abnormalities are found the affected embryos are generally discarded and affected babies are aborted.

The HGC is recommending that these tests be available to both children and adults before they have children in order to increase their ‘reproductive options’.

The move has already attracted a lot of criticism.

Dr Helen Wallace, director of GeneWatch UK, has said: ‘The idea that young people should be choosing partners or deciding to use IVF based on their DNA is both dangerous and misleading. Even if everyone were screened, some children would still have genetic disorder because many mutations occur spontaneously and are not inherited.’

Dr David King, director of Human Genetics Alert, has warned that the report ‘will inevitably lead to young people being stigmatised and becoming unmarriageable’ and that ‘disabled people will feel even more threatened.’

Dr Calum Mackellar, Director of Research at the Scottish Council on Human Bioethics, has raised the question of whether the HGC's decision is an example of negative eugenics.

And Josephine Quintavalle, from the campaign group Comment on Reproductive Ethics, has warned that the recommendations were ‘far too deferential to genetic determinism’.

There are literally hundreds of identifiable genetic disorders that can be passed on from adults to children. These vary in severity (from fatal to minimal functional disturbance), clinical effects, age of onset and frequency.

The vast majority are vanishingly rare and most doctors have not even heard of them. There are some diseases which are much more household names such as sickle-cell disease, cystic fibrosis and PKU, all of which are tested for using the Guthrie test heel prick routinely carried out five days after birth.

However even these ‘common’ conditions are very rare having frequencies of 1 in 650 (only among African Americans), 1 in 2,000 and 1 in 12,000 respectively.

The pattern of inheritance also varies. People will generally know that they carry ‘autosomal dominant’ disorders such as Marfan’s syndrome because they will be physically affected themselves. However recessive diseases like cystic fibrosis and sickle cell disease can be carried by people without them knowing. Only if both parents are carriers can the children be affected, and then only then 1 in 4 children will display the disorder.

So what are these ‘reproductive options’ that the government is wanting to promote?

One ‘option’, if you find yourself to be a carrier, would be simply not to marry another affected person. But who is going to ‘choose’ that if they are truly in love?

The next option would be for affected couples to choose not to have children but rather to adopt. But then there are very few babies available for adoption nowadays with the rise of abortion and with many solo parents choosing to keep their children.

The next option would be to make use of IVF technology employing either donated egg or sperm but that raises all sorts of ethical issues.

Failing that the only remaining reproductive options are embryo screening, chorionic villus biopsy or amniocentesis followed by embryo disposal or abortion. However these last options do not involve treatment or prevention of genetic diseases, but rather destruction of those individuals who carry affected genes.

So the overall effect of this new technology will be more IVF and more embryo disposal and abortion.

What is really driving all this? My concern is that it is our society’s increasing obsession with celebrity status, physical perfection and high intelligence leading to the view that the lives of people with disabilities or genetic diseases are somehow less worth living.

By contrast the Christian view is that the life of every human individual, regardless of its intelligence, beauty, state of health or degree of disability is infinitely precious. A just and caring society is one where the strong make sacrifices for the weak, or in the words of the Apostle Paul, ‘bear one another’s burdens, and so fulfil the law of Christ’ (Galatians 6:2).

Increasingly now, we hear, particularly at a time of economic recession and financial constraint, about the cost of caring for those with disabilities or disease. However because of the very low frequency of genetic disease, the actual cost of prevention, treatment or cure as a percentage of the total health budget is very small indeed.

Furthermore, new preventions, treatments and supportive measures are being developed all the time. In the past PKU universally led to serious brain damage but can now be successfully managed with the right diet after detection. People with cystic fibrosis are living much longer and have a better quality of life as a result of advances in medical technology and palliative care.

If we are really concerned about health spending then we should be investing much more in the prevention of the growing burden of disease occurring as a result of what is euphemistically called ‘life style choices’.

People who drink too much, smoke too much, eat too much, fail to exercise, drive recklessly or have sex outside marriage contribute far more to society’s disease burden then those who, who through no fault of their own, carry genetic diseases with genetic disabilities.

And the health costs of caring for the growing number of elderly people in our society, would not be a problem if our birth rate, largely as a result of ‘life style choices’, had not fallen beyond replacement levels.

There are far more important priorities for government spending than rolling out genetic screening for rare diseases and fuelling the growing eugenic mindset which is leading to more and more highly questionable ‘reproductive choices’.