Preventing mitochondrial disease: What about the patients?

Techniques for the prevention of mitochondrial disease have attracted intense speculation, controversy and excitement. David Willetts, minister for universities and science, highlighted their development as 'an important and potentially life-saving discovery' (BioNews 641). Mary Herbert, professor of reproductive biology at Newcastle University's Centre for Life described them as having the potential to be a 'tremendous help for many hundreds of people' (BioNews 673).

As part of my research, conducted at the Economic and Social Research Council's Cesagen, I have spoken to many patients with mitochondrial disease. Their stories highlight considerable variation in how the disease can be experienced. Mitochondrial disease is associated with a wide range of symptoms and levels of severity, and exhibits a complex relationship between physical symptoms and genetic cause. These uncertainties can lead to difficulties in assessing the future health of the potential parents, as well as in estimating reproductive risk and in identifying the extent to which a child will be affected. What this means is that even when a woman is diagnosed with mitochondrial disease, we cannot, nor should not assume that she will opt for IVF assistance.

The public consultations by the Nuffield Council on Bioethics and the Human Fertilisation and Embryology Authority (HFEA), as well as public events such as those organised by the Progress Educational Trust (PET) should provide evidence of patient, professional and public opinion about whether the law should be changed so that these technologies can be offered to patients.

For those who attended the event organised by PET in partnership with City University London's Science Journalism course (BioNews 676) it was clear that for patients, and parents of children with mitochondrial disease, the regulation of these technologies is intensely personal. Although the panel was made up of high profile academic and health experts, the voices of two people in particular offered a compelling argument. The whole auditorium was silent when Alison and Liz talked about their experiences of losing a child with mitochondrial disease, appealing to allow these techniques to be offered to parents to prevent families going through such distress.

Beyond this event, patients and parents have played a prominent role in this debate. The evidence submitted to the Nuffield Council on Bioethics by patients highlights their support for these technologies. At the PET meeting, a representative of the Muscular Dystrophy Campaign highlighted the campaign's long standing support for these techniques, and stressed that patients themselves have driven this research. The Muscular Dystrophy Campaign has supported Professor Turnbull's work at Newcastle University over the last twenty years, contributing more than £1.2 million (BioNews 644). Widespread  support for these techniques is also evident in the large number of women who came forward to donate their eggs for this research following a public appeal by Newcastle University.

Techniques of mitochondrial donation pose considerable challenges to existing legal and ethical frameworks, leading to concern about 'slippery slopes' and designer babies. During the discussion of these issues at the PET meeting, Professor Jackie Leach Scully highlighted that what we think will be problematic often turns out not to be so, and what we think is insignificant might turn out to be the problem. If this is the case, then it is probable that the 'three parent froth' (BioNews 661) will be forgotten very quickly. But what will be the lasting legacy of these discussions?

It is estimated that only ten to twenty families per year might use techniques of mitochondrial donation, at least in the beginning. This is a much lower number than suggested in media coverage, reflecting the fact that mitochondrial disease is a rare, complex and varied disorder and that there are alternative reproductive technologies available. Even if only small numbers of families opt for mitochondrial donation, these discussions still have implications for the wider patient population.

The introduction of any genetic technology raises questions about the role of disability and illness in society. Focusing exclusively on mitochondrial disease as a devastating illness affecting young children, in order to garner public support, could be detrimental to those living with the disease and maintaining a high quality of life. Most prominently, all the patients I have spoken to as part of my research, whatever the extent of their symptoms, expressed deep frustration. Few people, including health professionals, have heard about mitochondrial disease. The extensive coverage surrounding these technologies will therefore have an enduring impact by raising public awareness of some of the difficulties faced by patients and families.