Embryo screening for hereditary breast cancer

30 April 2007

A doctor from University College Hospital, London has submitted an application to the Human Fertilisation and Embryology Authority (HFEA) for permission to perform prenatal genetic diagnosis (PGD) on embryos for the purpose of identifying mutations in the BRCA1 gene associated with hereditary breast and ovarian cancer syndrome (see BBC news story).

In May 2006 the HFEA announced that they would permit PGD to screen embryos for genetic variants associated with hereditary forms of cancer such as breast and bowel cancers (see previous news story). This decision was controversial because inheritance of an associated mutation for these disorders does not guarantee that the individual will go on to develop the disease within a lifetime for example, mutations in the BRCA genes are associated with a 40-80% lifetime risk of breast cancer and a 10-50% risk of ovarian cancer). An additional issue was that onset of disease among those affected is not usually seen before adulthood. However, the HFEA ruled that the risk of cancer and the nature of the preventative interventions or treatments were sufficient for the condition to be considered a serious form of disease.

Although the HFEA permits the use of PGD to select embryos free from inherited predisposition to specific forms of cancer for in vitro fertilisation in principle, each application must be individually reviewed before approval may be given.