The UK Human Fertilisation and Embryology Authority (HFEA) has granted permission for pre-implantation genetic diagnosis of familial hypercholesterolaemia (FH) to be performed for the first time. The licence has been awarded to Dr Paul Serhal (University College London), who will screen embryos for the homozygous form of FH.
FH is caused by a single gene defect on chromosome 19. Individuals with two copies of the defective gene have severely raised low-density lipoprotein (LDL) cholesterol levels from birth and are predisposed to early atherosclerosis. Many die in childhood, and most suffer at least one myocardial infarction by the end of their 20s. The milder, heterozygous form of FH is much more common and can be managed using a combination of diet and drugs.
The couple for whom the licence has been awarded discovered that they were both heterozygous for FH only after having their first child who is homozygous for FH. The pre-implantation diagnosis will involve taking a single cell from each of a number of embryos produced via in vitro fertilisation; any embryos homozygous for FH will be destroyed.