Intended for healthcare professionals


Ethics of mitochondrial gene replacement: from bench to bedside

BMJ 2010; 341 doi: (Published 08 November 2010) Cite this as: BMJ 2010;341:c6021
  1. Annelien L Bredenoord, assistant professor of medical ethics1,
  2. Peter Braude, head of department 2, director 3
  1. 1University Medical Center Utrecht, Julius Center for Health Sciences and Primary Care Stratenum, 6.131, PO Box 85500, 3508 GA Utrecht, Netherlands
  2. 2Department of Women’s Health, King’s College London, London, UK
  3. 3Centre for Preimplantation Genetic Diagnosis, Guy’s Hospital, London, UK
  1. Correspondence to: A.L Bredenoord A.L.Bredenoord{at}
  • Accepted 10 October 2010

The prospect of using mitochondrial gene replacement to conceive children free of mitochondrial disease highlights the need for a sound ethical framework for reproductive genetic technology, say Annelien Bredenoord and Peter Braude

Medical research in humans is highly regulated and has embedded ethical procedures and standards. However, whereas review and formal oversight have been established for drugs and medical treatments, this is not the case for new reproductive genetic technology. Many questions of safety are wholly or partly resolved by experience from use of the technique—a try it and see approach.1 Attention has now been drawn to this gap. The European Society of Human Reproduction and Embryology, the US President’s Council, and the UK Medical Research Council concluded that professional societies and clinicians should develop a more systematic mechanism for reviewing experimental procedures before they become standard clinical practice.2 3 4

The importance of revisiting research ethics for reproductive genetic technology has been underscored by recent technical successes that may pave the way for the development of mitochondrial gene replacement for carriers of mitochondrial DNA (mtDNA) mutations.5 6 This novel technique could be a valuable addition to current reproductive strategies but also raises an array of technical and ethical issues,7 especially in relation to first human application. Here we identify some pressing issues for the purpose of initiating timely debate.

Ethical questions

Moving from animal and other preclinical studies to a first human application is always uncertain and ethically contentious.8 9 First human use of mitochondrial gene replacement is especially challenging because the technique modifies the germ line and the modification would be transmitted to subsequent generations.7 How do we evaluate the (intergenerational) risks and benefits? Some of the risks and uncertainties might be clarified and reduced by preclinical research using animals and human embryos. To …

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