09 June 2008
ByAppeared in BioNews 461
A British couple has successfully used PGD (preimplantation genetic diagnosis) funded by the NHS to create a baby free from neurofibromatosis type 1, a potentially serious genetic condition. This is reported to be the first time PGD has been used for this condition.
The baby's father, Peter Wills, suffers from neurofibromatosis type 1, a genetic condition that affects the nervous system. He was diagnosed as having the condition at the age of 18. Symptoms can range from slight - e.g. marks on the skin - to very severe. In the worst cases the condition can cause epilepsy and tumours and it can reduce a sufferer's lifespan by up to 15 years. There is a 50 per cent chance of passing it to a child and it is difficult to predict how severe the condition will be.
As reported last week in the Telegraph and the Daily Mail newspapers, the local Primary Care Trust approved funding of £7,000 for the procedure, enabling Mr Wills and his partner Tracey Hobbs to use PGD in conjunction with IVF to screen out affected embryos ensuring their child, Ethan, was born free from the condition. Miss Hobbs described the process as straightforward. 'It was a very simple procedure, just standard IVF, but they sent the embryos away to be tested to see if they carried the disorder and implanted the ones that did not, and we had Ethan,' she said.
The procedure raises ethical considerations as the embryos which are deemed unfit for implantation are discarded. Josephine Quintavalle, of Comment on Reproductive Ethics (CORE), opposes the use of PGD saying the benefits may not justify interfering with nature: 'Is this a situation that warrants such serious intervention? People don't want to risk anything at all', she said. Some commentators also fear the technique could be used for non-medical reasons, whilst others oppose what they see as the creation of 'designer babies' full stop.
PGD is regulated by the Human Fertilisation and Embryology Authority (HFEA) under the Human Fertilisation and Embryology Act 1990, which allows the technique to be used where there is a 'significant risk of a serious genetic condition.' A licence must be obtained from the HFEA to use PGD for each particular condition. Mr Wills explained what the technique meant to them: 'PGD gave us the opportunity to bring a child into the world without neurofibromatosis. It is a disabling condition that often doesn't show up until later in life and without this treatment we would always have been worried that the condition would appear'.
The couple was treated by Dr Simon Fishel at CARE fertility clinic in Nottingham. 'Without this PGD, there was a 50 per cent chance the embryo would carry the gene', said Dr Fishel, adding 'if the embryo did carry the gene there is a chance of miscarriage, or the child being severely affected and living a shorter life'. He continued: 'Deciding whether or not have children is an absolute nightmare for families with genetic conditions, this procedure eliminates the element of risk. And it is an enormous benefit to the NHS because babies born with genetic conditions are an enormous cost.'