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Department of Health guidance on preimplantation genetic diagnosis
The rapid development of technology that enables genetic diagnosis to be carried out on a single cell from an embryo before implantation, to avoid the birth of a child affected by a serious single-gene disorder carried by its parent(s), has led to questions about the circumstances in which preimplantation genetic diagnosis (PGD) should be made available by the National Health Service. The situation is complicated because PGD requires the use of assisted reproduction technology (in vitro fertilisation) to create the embryo, but is not a treatment for infertility. The Department of Health has issued guidance that includes an explanation of PGD, the regulatory framework, the evidence for efficacy of PGD, current availability and provision in the NHS, and current activity and outcome data across the country. The document concludes that PGD “may be a legitimate approach to reproductive choice” but that requests should be considered on a case-by-case basis. Priority should be given where the risk of the genetic disorder being passed on to the child is greater than 10%, and where the couple requesting treatment have no living or no unaffected children. It is suggested that the number of IVF cycles funded should be limited to 2 or 3. A flow chart sets out the referral pathway and highlights the points at which decisions should be made about proceeding further.