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Monday, January 12, 2009

Gene parents plan more breast cancer-free babies

Paul Serhal, Medical Director, Hon. Consultant with The Assistant Conception Unit, University College Hospital

The parents of the first British baby screened to be free of a breast cancer gene have spoken publicly about their “beautiful” daughter - and revealed that they plan to have more children free of the hereditary condition.

“She is a beautiful, healthy baby girl,” the child’s mother told The Sunday Times in her only interview. “She has 10 fingers and 10 toes. She’s 100% healthy.”

The parents are remaining anonymous to protect the baby, who was born last week. They are pioneers of a breakthrough in the fight against “hereditary” cancer. Though the parents could conceive naturally, they underwent IVF and genetic screening because three generations of women in the husband’s family had suffered from breast cancer. The procedure ensured that a gene associated with the cancer would not be present in the baby.

The 26-year-old mother said: “To be able to look at our daughter and to know that she doesn’t have the gene is a massive sigh of relief for us. We have eliminated that risk and that is priceless.”

She revealed that the couple have a stock of healthy embryos in storage which they plan to use to have more children without the hereditary condition.

Her husband’s mother, grandmother and sister have suffered breast cancer and endured gruelling chemotherapy and radiotherapy sessions in their battles against the disease.

The baby’s 28-year-old father said: “A massive amount of credit has to go to my wife for undergoing what was effectively an invasive procedure of IVF for a problem which wasn’t her own but was from my side of the family. Talking about how we felt about it probably brought us closer together.”

The couple produced 11 embryos, of which five were found to be free of the gene. The spare healthy embryos have been frozen and the couple hope to be able to have brothers and sisters for their daughter. They do not know whether the embryos in storage will be sufficient to complete their family.

“It depends how many kids we want and, when we implant the embryos, if they take,” the mother said.

The baby’s father said it was a great privilege to be able to pioneer the treatment and to know that he had spared any future children the blight of breast cancer.

“There are many pitfalls my children may go through in

life that I cannot predict for them. We do know about this one and that is why we felt a duty to do something about it.”

The couple hope their treatment, which has prompted a debate about the ethics of embryo screening, will help other families to avoid heartache and suffering.

The mother said: “Having watched my husband’s family go through what they have been through, knowing that [my daughter] doesn’t need to go through that, makes it all worthwhile. I hope this encourages others to do the same.”

Undergoing IVF, she said, was a small price to pay. In the treatment, which was conducted at the private assisted conception unit at University College London hospitals, the couple created embryos in vitro so that they could be screened for a faulty gene called BRCA-1, which ran in the father’s family. If they had conceived naturally there would have been a 50% chance of their child carrying the gene. A female carrier would then have faced an 80% chance of developing breast cancer and a 60% chance of ovarian cancer.

Though cure rates for breast cancer are improving, the illness can still exact a heavy toll on survivors.

The baby’s paternal grandmother, who has suffered from breast cancer, said: “Not everyone is fortunate enough to be cured of breast cancer and the treatments that women have along the way are horrific.

“I went through a year of chemotherapy and radiotherapy and this had a huge impact on our family. To know that this child, and the generation after her, will not have this cloud hanging over them is just wonderful.”

She said the couple’s treatment, called preimplantation genetic diagnosis, had removed the “sword of Damocles” that hung over the family.

Critics accuse doctors of pioneering a technology that leads science further down the road to “designer babies”. They point out that a female gene carrier may not develop breast cancer in adulthood and that, even if she does, the disease now has a high cure rate.

Paul Serhal, lecturer at University College London and medical director of the assisted conception unit, said: “This little girl will not face the spectre of developing this genetic form of breast cancer or ovarian cancer in her adult life.

“The parents will have been spared the risk of inflicting this disease on their daughter. The lasting legacy is the eradication of the transmission of this form of cancer that has blighted these families for generations.” The baby’s father said: “You never hear people who have been through breast cancer bringing up those points. It is a devastating illness.”

Serhal and colleagues at University College have been credited with pioneering the screening out of hereditary cancers, including genetic forms of bowel cancer and cancer of the retina.

It is understood that, since they have been working on this technology, babies have been born in America free of the breast cancer gene.

Last year an Israeli woman was reported to be in the advanced stages of pregnancy after her embryos were screened for it.

About 5% of the 44,000 cases of breast cancer in Britain each year are estimated to be caused by the BRCA-1 and BRCA-2 genes, both of which can be detected in embryos.

Many women who test positive for the gene have their breasts removed as a precaution.