The first baby to be screened for alterations in the breast cancer-causing gene, BRCA1, was born last week. The child was at risk from inheriting the gene from her father, who has women in three generations of his family who have been diagnosed with breast caner in their twenties as a result of inheriting the defective gene.
Paul Serhal, the fertility expert who treated the couple at the Assisted Conception unit of University College Hospital, London, 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 BRCA1 gene, when properly functioning, can help prevent breast cancer, but abnormal variations can significantly increase the risk of developing breast cancer. Females born with the affected gene face a 50-80 per cent risk of contacting breast cancer and a 40-60 per cent chance of developing ovarian cancer.
In 2006 the UK’s Human Fertilisation and Embryology Authority (HFEA) permitted fertility clinics to perform pre-implantation genetic diagnosis (PGD) – a procedure whereby embryos are tested for various conditions, the healthy ones are re-implanted and those that are affected are discarded – to test for this type of gene that makes carriers susceptible to a disease but that does not necessarily lead to disease in all cases. BRCA1 and BRCA2 account for around five per cent of breast cancers and it is thought that roughly 37,000 women in the UK carry BRCA1.
The couple concerned, who wish to remain anonymous, underwent IVF despite being fertile. A single cell was removed from the 11 embryos created when they were at the eight-cell stage and tested for the defective BRCA1 gene, revealing that only five of the embryos were free from the gene. Two of these were implanted into the mother’s womb, of which one, a girl, successfully implanted to develop until birth. The remaining three healthy embryos were frozen in case the parents want more children in the future. The six embryos carrying the defective BRCA1 gene were discarded.
Given that the breast cancer is increasingly curable and that carriers of the gene do not necessarily develop the disease (and vice versa), questions have been raised over the ethics of the procedure. Josephine Quintavalle, of the campaign group Comment on Reproductive Ethics (Core), told the BBC that she believes the procedure is a step too far, as it gives the message that ‘you are better off dead, than being born with this gene’. She added: ‘I hope 20 years down the line we will have eradicated breast cancer – not eradicated the carriers’.