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Outcry as clinic offers 'designer baby' embryo screening for 200 diseases
13.11.06

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Controversy has erupted over a new technique offered on the NHS which screens embryos for over 200 inherited diseases.

Doctors are heralding the test as 'revolutionary' for the diagnosis of genetic disorders.

But critics warn the ground-breaking technique is another step towards the creation of the 'designer baby'.

They fear extended genetic screening may eventually be used to create babies chosen for physical characteristics, such as blue eyes or blond hair.

Josephine Quintavalle, of Comment on Reproductive Ethics, said: ''We are venturing into the unknown with extended genetic testing because we know so little about this field.

''Who knows what is being discarded and there is always the risk of misdiagnosis.

'It's the whole process that is disturbing and when you have got 200 diseases that can be tested for, it seems inevitable that the next step will be the designer element.'

The new screening technique is based on Pre-implantation Genetic Diagnosis (PGD), originally developed in the late 1980s to identify genetic defects and chromosomal abnormalities in embryos before they are transferred to the womb.

The latest advances in automated computer analysis and genetic probes mean it is now possible to screen for virtually all currently identified genetic disorders.

They include Fragile X Syndrome, Cystic Fibrosis, Diamond Blackfan, Krabbe's disease, Sickle Cell, Tay-Sachs disease and Marfan Syndrome.

So far six patients have had the £6,000 technique now being provided by Dr Simon Fishel and his team at the Nottingham-based CARE Fertility - half of them with NHS funding.

Dr Fishel said: ''This is the beginning of a genetic diagnostics revolution.

''A technique capable of detecting at least 200 genetic disorders can now be offered to British couples at risk of having a seriously sick baby, often with a terminal illness.

''It can benefit the individual but there is an economic case for it being funded by the NHS - which has happened for half our patients.''

The latest technique looks for the 'molecular fingerprint' of a specific disorder in a single cell 30 times smaller than a pinhead taken from a eight-day-old embryo.

It means doctors can discard any embryo affected by the disorder, before using IVF to implant a healthy one into the mother's womb.

Dr Fishel helped treat Jill and Ian Carter from Gateshead who lost their baby daughter Ellie three years ago to the rare, killer condition Gaucher disease.

Last month they celebrated the birth of Charlie after successful screening discovered one perfect embryo out of 10 possible candidates.

But in their case, as revealed tomorrow in a Child Against All Odds - Choosing Children BBC One the genetic analysis had to be done in the US because the technique was not offered in the UK at the time.

Now couples like the Carters, who previously had to turn to America for the genetic screening, can get the same test here.

Dr Fishel insisted the technique was not producing 'designer' babies.

He said: ''We are providing a healthcare option for diagnosing and selecting out affected embryos so couples have the opportunity of embarking on a pregnancy with a healthy child.

''The alternative is testing at 16 weeks when they may choose an abortion or, in many cases, seeing their baby die from some of these horrendous diseases.

''In my opinion, it is unethical not to offer couples the chance of a disease-free child.''

Dr Fishel is working with Genesis Genetics Institute in Michigan - which developed the technique - and Professor Mark Hughes, a geneticist based in Detroit who helped pioneer PGD.

Dr Fishel said couples at risk of transmitting an inherited disease to their children can have individual genetic 'typing' taken from their own DNA to ensure the specific defect is identified.

The defect is then searched for in a single cell taken from the embryo and the results come back within 48 hours. The rate of misdiagnosis is less than one per cent, he said.

An embryo that is unaffected can be implanted in the womb using IVF.

Dr Fishel said some conditions that are passed on only by the mother can be identified from part of the developing embryo that normally goes to waste, meaning the embryo itself remains whole.

He said: ''When something goes wrong with the DNA it's like searching for one page in 300 volumes of Encyclopedia Britannica, where one letter is wrongly typed.

''We can do that using automated computer analysis after working up the DNA from the couple, and then searching for the molecular fingerprint in the embryo.

''When a healthy embryo is identified the mother's chances of becoming pregnant are very good, depending on age, because the couple is normally fertile.''

Dr Fishel, who opened a laboratory in September to process the testing, said the NHS could benefit from buying their services.

Most couples need between one and three courses of treatment costing up to £20,000.

He said: ''I had a phone call from a primary care trust after a couple applied for funding, asking what it was all about.

''When I explained, the manager said, 'So this technique means we spend £20,000 and avoid the possibility of having to spend between £1 and £2 million caring for a disabled child. It's a no-brainer.'''

Dr Fishel has to apply for permission from the fertility watchdog, the Human Fertilisation and Embryology Authority, in each couple's case to carry out genetic testing.

Dr Virginia Bolton, consultant embryologist at Guy's Hospital, London, and trustee of Progress Educational Trust, said: ''Anything that can help identify a debilitating disease at the earliest possible stage has to be a good thing because it frees the family from the prospect of an often tragic outcome.

''More sophisticated techniques mean we no longer have to reject all boy embryos - for example - because they may have a sex-linked disease.

''This meant in the past some healthy embryos had to be discarded unnecessarily whereas we can now do a proper test.

''I realise some people have concerns this is all going too far but quite apart from the regulators overseeing our work and ethical guidelines, we are governed by our desire to alleviate suffering.''

A spokesman for the Human Fertilisation and Embrylogy Authority, said 'Because PGD technology is new and developing we have to be careful with applications and should treat everyone individually for the time being.'

Outcry as clinic offers 'designer baby' embryo screening for 200 diseases (http://www.thisislondon.co.uk/news/article-23374254-details/Outcry%20as%20clinic%20offers%20'designer%20baby'%20embryo%20screening%20for%20200%20diseases/article.do)