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Report provided to the Human Fertilisation and Embryology Authority, April 2011 - page 4 / 45





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The panel concludes that PGD can only reduce, not eliminate, the risk of transmitting abnormal mitochondrial DNA that may lead to a mitochondrial disease. PGD is suitable for some, but not all, patients who suffer from mutations in their mitochondrial DNA. The panel makes recommendations for centres carrying out PGD for mitochondrial disease to reduce the level of uncertainty around the diagnosis.

The panel concludes that the techniques of maternal spindle transfer and pronuclear transfer are potentially useful for a specific and defined group of patients whose offspring may have severe or lethal genetic disease, and who have no other option of having their own genetic child. As in every area of medicine, moving from research into clinical practice always involves a degree of uncertainty. The evidence currently available does not suggest that the techniques are unsafe. Nevertheless, these techniques are relatively novel, especially applied to human embryos, and with relatively few data to provide robust evidence on safety. The panel therefore urges that additional research be undertaken to provide further safety information and knowledge about the biology of human mitochondria. The panel proposes a (minimum) set of experiments that it feels is critical. Although optimistic about the potential of these techniques, the panel recommends a cautious approach and advises that this research is carried out, and the results taken into account, before the techniques can be considered safe and effective for clinical use.

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