Each of the couples who will be the first to take advantage of the embryo-screening tests developed at University College Hospital, London, have a long family history of inherited breast cancer, through which the affected partner has lost several female relatives.

For Helen, 22, and Matthew, 25, from Bedford, the test provides an opportunity to spare their children the psychological trauma that she has suffered since the age of 12, when her mother found that she had breast cancer caused by the BRCA1 gene.

Though her mother went into remission, she later developed ovarian cancer and died at the age of 48 after the tumours spread. Helen was 17. Her grandmother and great-grandmother on her mother’s side also died of breast cancer, most likely after inheriting the gene. Helen took the test for the gene recently after discussing plans for a family when she married Matthew. On finding that she had inherited the BRCA1 gene, the couple decided to seek embryo screening.

They were referred to Paul Serhal’s clinic by Northwick Park Hospital in Harrow, and their health authority indicated that it would consider funding the estimated £20,000 cost of treatment.

“I have lived much of my life with cancer and death, and the fear that I might have to face it and might pass on the risk to my children,” Helen said. “This gives us a chance to make sure that our daughters won’t have the same experience.”

Matthew, a scientist with a biomedical company, said: “I do understand the arguments against it, that it might not develop for 30-plus years, but you have to consider that Helen has no female family left. It seems very unfair to us that a child of ours should have to go through the same thing, when we have an opportunity to stop it.

“I don’t think it’s a valid argument to talk about slippery slopes. There is a world of difference between a disease like breast cancer and picking out blue or brown eyes.”

The second couple, who wish to remain anonymous, are somewhat unusual as it is the man who carries the BRCA1 mutation. He has not developed cancer himself, though it does give men a 5 per cent chance of developing breast cancer and a raised risk of prostate tumours, but any daughters he fathers would have a 50-50 chance of inheriting the gene.

Four generations of his family have suffered because of it His mother died of breast cancer at 43, his maternal aunt at 40 and he nursed his sister recently through the same disease before her death at 33. His maternal grandmother is alive but has survived ovarian cancer and a related bone cancer, and her sister – his great aunt – survived breast cancer. His great-grandmother and her sister also died of breast cancer.

The couple, from North London, have a two-year-old son, and as both are in their early thirties they would not normally expect to have problems conceiving another child. They decided to turn to IVF, however, after the decision by the Human Fertilisation and Embryology Authority to allow embryo screening for BRCA1.

“It is not that we want a perfect child,” the wife said. “It is that, having seen my husband’s sister die like this, we could never wish that on a child of our own, knowing about that risk. People say that it’s a disease that might never develop, and that it won’t develop until your thirties, but that ignores the psychological torment that’s with you all your life. Besides, when life expectancy is 80-plus, we don’t consider it to be late onset if you die in your early thirties.”

The couple are not seeking NHS funding. The husband has a well-paid job in the City, so they can afford to pay privately. They intend to start treatment as soon as Mr Serhal receives the licence.

Screen test

Embryo-screening relies on a technique known as preimplantation genetic diagnosis (PGD), which was first developed at Hammersmith Hospital in London in 1989

Embryos are created by IVF and grown to an eight-cell stage. One cell is then removed, and its DNA tested to determine whether a faulty gene is present. Only healthy embryos without the gene are transferred to the womb

PGD was initially used to select female embryos, to prevent diseases such as Duchenne muscular dystrophy and haemophilia, which generally affect only boys

Tests have since been developed for more than 200 different genetic conditions, including cystic fibrosis and Huntington’s disease

Until recently, PGD was approved only for genes that always cause disease when inherited, such as the CF mutation. Most of these conditions also affect people from early childhood, and are eventually fatal

In 2004, The Times revealed that the HFEA had awarded University College Hospital in London a licence to screen for FAP, an inherited bowel cancer that does not normally develop until the late teens or early twenties. Though it nearly always causes disease, some people who inherit the gene remain healthy

UCH then obtained a licence to screen for retinoblastoma, a curable eye cancer that affects 90 per cent of those who inherit the gene. The first baby to be selected this way was born this year, free from the condition

Last May, the HFEA ruled it would also award PGD licences for conditions that carry a lower risk, of around 60 to 80 per cent. These include the BRCA1 and BRCA2 genes for breast cancer, and the HNPCC gene for bowel cancer

Yesterday’s application is the first to be submitted under the new regime

Women with a mutation in the BRCA1 gene have a 60 to 80 per cent lifetime risk of breast cancer, and a 40 per cent risk of ovarian cancer. Together with BRCA2, it accounts for about 5 per cent of the 41,700 cases of breast cancer diagnosed annually

Source: Times database

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