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A British couple have won the right to test embryos for a gene that leads to high cholesterol levels and an increased risk of heart attacks, The Times has learnt.
The decision by the fertility watchdog will reopen controversy over the ethics of designer babies, as it allows doctors to screen embryos for a condition that is treatable with drugs and can be influenced by lifestyle as well as genes.
While the procedure is designed to detect a rare version of a disease called familial hypercholesterolaemia (FH), which often kills children before puberty, it will also identify a milder form that can be controlled by drugs and diet.
Critics argue that the test will allow couples to destroy embryos that would have had a good chance of becoming children with fulfilling and reasonably healthy lives.
The test will also create an unprecedented moral dilemma for some couples, as it could show that they have produced no embryos completely unaffected by the disease. This would force them to decide whether to implant embryos that they know have a genetic risk of premature heart disease and death, or to throw them away and deny them a chance of life.
Britain’s first licence to test embryos for FH will be awarded next week to Paul Serhal, of University College Hospital in London, by the Human Fertilisation and Embryology Authority (HFEA).
Its decision breaks new ground because it permits Mr Serhal to screen out not only the severe form of the condition but also the milder type, which is usually treatable.
Embryo screening has previously been approved only for disorders in which a gene invariably causes a serious disease, or for conditions such as breast cancer in which mutations carry an 80 per cent lifetime risk.
FH occurs in two forms. The more common version, heterozygous FH, affects 1 in 500 people. It is caused by a single mutated gene, which raises cholesterol and thus the risk of hardened arteries, heart disease and stroke. It can usually be managed with statin drugs and diet.
One in 250,000 people inherits two defective copies of the gene and develops homozygous FH, which is much more serious. Sufferers show severely elevated cholesterol from the age of 5, and can suffer angina by 6 or 7. Many die in childhood, and most have suffered at least one heart attack by the end of their twenties.
Mr Serhal’s patients, who are in their thirties, both have the milder heterozygous FH. They discovered their status only when they had a daughter, now 5, with the homozygous form, and they also have an unaffected son.
They said yesterday that they were delighted. “We had no idea that we both carried a gene for high cholesterol until the double gene was expressed in our first child. We are very lucky that our child has responded so well to the very high-dose drug regime. We have been led to understand that other children with the same double gene may not be so lucky.”
The couple, who approached Mr Serhal after learning that he was offering the pre-implantation genetic diagnosis test for a breast cancer gene, will have IVF next month, even though they are naturally fertile.
A single cell will be removed from each embryo at the eight-cell stage, and be tested for defective FH genes. Any that have homozygous FH will be discarded. The test will also determine whether the remaining embryos are completely clear of FH, or whether they have the heterozygous form. There may be none that are unaffected, leaving the couple with a difficult ethical decision.
Mr Serhal said: “This obnoxious disease can cause cardiovascular accidents at a very young age. Ideally, we will find embryos with no FH genes, but it is possible we will not and it will be up to the patients to choose. Some people would think twice about using embryos that they know have a risky gene, and others would say you shouldn’t screen out a condition that can be managed so people can live with it. It will be an awkward choice.”
Mr Serhal said that the HFEA had also indicated that it would be prepared to sanction screening for the milder form of FH alone for couples in which one partner was a carrier and the other was not, though he was not yet proposing to do such screening.
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All those who are not in favour of these genetic tests I can only say have never lost or watched their child suffer from an incurable genetic disorder. I have and if I could have another child free from the genetic disorder that killed my son at 2 days old I would.
Beth, Cambridge, Cambs
I am 25 and have familial hypercholesterolaemia. I've had it since age 3. I grew up in a hospital, taking experimental medication and attending cholesterol classes with the 50+ set. I have the 'mild' form of the disease. Everyone on my father's side has had heart surgery by age 35. They never had the luxury of statins or proper diagnosis, I did.
I am at the age where I am considering having a child. I plan on having genetic testing, just like the couple in the article above. Children born with the homozygous FH gene living beyond the age of two are incredibly rare. This couple's child is a large exception to the prognosis. The fact is, she is most likely on a massive dose of statins or experimental drugs and will be on some sort of dialysis in the near future. Most children born with the homozygous FH gene need urgent liver transplants.
Obviously, destroying the fetus which has a form like mine is ludicrous. But bringing a child into the world who will most likely die before 2 years?
Carla, London, UK
i am too doing a case study and beleive that people should not use pgd to designer their child. however i am a triplet and was produced by ivf treatment, ivf is still natural is not playing with genetic characteristics
rebecca, yorkshire, england
i think it is really mean making designer babys people should be happy with the child they get no matter what it looks like
im doing a case study for school at the moment about this and i just think its horrible
sammy, haywards heath, uk
This article is incredibly misleading - the HFEA have ONLY granted a licence for screening out of homozygous forms of the disease - something which the article fails to make clear. They are not suggesting that the heterozygous embryos- the same as the parents - will not be implanted. This development is not suggesting that people with the milder form should be prevented from being born or that such lives are unworthy.
Kirsty, London,
The age of drugs, vaccines, and surgery was our old science, and it took a while to get used to (Some never did.) The new medicine is genomics.
We all need to keep discussing these things in a thoughtful and rational way---so that we agree to make the advances that we need to make, and still feel comfortable with our social and moral compass. We can take on this new challenge with grace if we keep ourselves informed.
There doesn't need to be a dystopian slope to armageddon. It's new. We don't know what to make of it, yet. Time to get informed. It's our civic responsibility.
Jared P., San Diego, CA
Hitler would love this
Ginger, Iowa Falls, IA
Everyone just needs to watch Gattaca to understand the full consequences of these types of actions, I am a die hard liberal but this can turn into something really terrible, and fast.
Catherine, Boston,
While it it admirable that the parents wish to keep their child from suffering with the severe form of high cholesterol, isn't it pathetic that people think that life is not worth living if one is born with a high cholesterol disorder? Think of it. Here is the couple with the child who has the severe form of high cholesterol and they are controlling the disease well and the child is doing quite well. They would be murdering a human being if they took away their child's life. However, if an embryo, who would grow to be genetically similar to their child, were alive they would be allowed to kill that child who is simply at an earlier stage of growth. This is total lunacy! To characterize human life as valuable or not because the person has a disease, is like a life made up of waiting around for one's genetically predisposed diseases to manifest themselves. If this is what a scientifically examined life and scientifically prudential decisions entail they are monsterous values.
William R. Moore, Minneapolis, USA / Minnesota
I'm against abortion, but this only science taking care of what we used to do with natural selection, today we are a weak race of human beings with all sorts of aliments that normal natural selection would have removed, but we have moved on from nature and now must force science to do natural selection for us.
The best thing would be to allow a corporation to raise children for their own potential benefit, if the child after the age of 18 decides to continue on with the company great, if not they are left to their own devices, maybe the company would even have a investment arm that funded some of the kids who wanted to leave that had an ability that the corporation found favorable, if we are a race to survive our limited time on this rock called earth we are going to have become serious about getting off soon.
Billy Norton, San Jose, CA
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