First UK birth following PGD for hereditary breast cancer

9 January 2009

The UK media have widely reported on the birth of the first baby following screening by preimplantation genetic diagnosis (PGD) to identify embryos carrying an inherited BRCA gene mutation. The Human Fertilisation and Embryology Authority (HFEA) decided in 2006 that PGD inherited predisposition to breast, ovarian and bowel cancers would be permitted (see previous news), despite their relatively low penetrance – meaning that the probability of individuals who inherit the mutation developing a related cancer during their lifetime is relatively low compared with many genetic diseases; in the case of the BRCA gene mutations, up to 80% for breast cancer and 50% for ovarian cancer. The first licence application to perform PGD for BRCA1-linked hereditary breast and ovarian cancer was made in 2007 (see previous news).

Now a baby girl has been born free from the BRCA1 mutation that was present in three generations of women from her father’s family who developed breast cancer. The doctor who performed PGD for the couple commented: "This little girl will not face the spectre of developing this genetic form of breast cancer or ovarian cancer in her adult life…The lasting legacy is the eradication of the transmission of this form of cancer that has blighted these families for generations" (see BBC news).

The news has provoked some ethical discussion around the topic of whether any form of genetic screening is acceptable, despite wide public acceptance in the UK of current antenatal screening programmes such as that for Down Syndrome. There has been speculation as to whether the next step from selecting embryos free from harmful traits will be selecting embryos for the possession of beneficial traits to create so-called ‘designer babies’. Not all these discussions center on scientifically plausible scenarios. The HFEA has taken the step of issuing a press release countering inaccurate media reports prior to the birth of the child in question, clarifying that the embryos produced by IVF were then screened to identify those with the mutation, and these embryos were excluded from implantation; they state that: “The embryo which was chosen was not genetically manipulated or programmed. The cancer causing gene was not removed from the embryo”.