January 28, 2015

expert reaction to study estimating number of women in the UK who could benefit from mitochondrial donation

A team of researchers publishing in the New England Journal of Medicine has estimated the number of women in the UK who might be able to have access to the mitochondrial donation techniques due to be debated in parliament.

Mr Alastair Kent OBE, Director of Genetic Alliance UK, said:

“We now have a sense of how many women may be able to benefit from the emerging mitochondrial donation techniques soon to be debated in Parliament. This research will be valuable to assist the NHS in planning the eventual commissioning of a service to provide this intervention, once regulations are passed and licenses to practice are awarded. This is an important development and we are anxious to see it brought into clinical use promptly, once research has advanced to the point where this is appropriate.”

Prof. Sir David Spiegelhalter, Winton Professor of the Public Understanding of Risk, University of Cambridge, said:

“This study has convincingly shown that the fertility rate of affected women matches the general population. To estimate the total number of affected women they have extrapolated from the North East to the rest of the country, and so their estimates are naturally uncertain – their estimate of births to women at risk in the UK ranges from 125 to 200 each year.  But since they only include the cases that have come to their attention, if anything their total numbers are likely to be on the low side.”

Dr Marita Pohlschmidt, Director of Research, Muscular Dystrophy Campaign, said:

“This is a convincing and important study. Cutting-edge diagnostic techniques, meticulous tracing of family members at risk and excellent referral processes in the North East, have allowed Newcastle University to give us a precise picture of the impact of mitochondrial disease on fertility and live births in the UK. We also now know that mitochondrial donation IVF could benefit a far higher number of women than we had previously thought, and exactly how crucial it is this technique is taken forward into the clinic.”

‘Mitochondrial Donation: How many women could benefit?’ by G.S. Gorman et al. published in New England Journal of Medicine on Wednesday 28th January 2015. 

All our previous output on this subject can be seen at this weblink: http://www.sciencemediacentre.org/?s=mitochondrial%20donation&cat=

Declared interests

Dr Marita Pohlschmidt: The Muscular Dystrophy Campaign does not have a financial interest in mitochondrial research.  We have been a long-term funder of research into mitochondrial disease, conducted by Professor Doug Turnbull and his team at Newcastle University.  Professor Turnbull was appointed a Vice President of the Muscular Dystrophy Campaign in 2013, an honorary position which carries no payment or reward.

Mr Alastair Kent: I am employed by Genetic Alliance UK, the national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 160 patient organisations. Our aim is to ensure that high quality services, information and support are provided to all who need them. We actively support research and innovation across the field of genetic medicine.

Policy and practice in generating resources to support the work of Genetic Alliance UK (including that carried out as part of our projects SWAN UK and Rare Disease UK) is determined by the Trustee Board of the Charity, the members of which are nominated and elected by the patient organisations which comprise Genetic Alliance UK’s membership.

Having determined a strategy and a work plan Genetic Alliance UK then seeks resources to implement it from a wide range of potential funders including National Governments, the EU, the pharmaceutical and medical devices industry, the Medical Research Council, Wellcome Trust, The Big Lottery and others. Patient organisations also pay a subscription according to their size. Genetic Alliance UK does not accept unsolicited grants that are contingent on the organisation carrying out work on behalf of a third party that would be counter to the interests of patients and families with genetic disorders or which would hinder the effective delivery of the strategy endorsed by the Trustee Board.

Full details of our funding policy can be found here: http://www.geneticalliance.org.uk/ethicalcollaborationpolicy.htm

All our income is reported in our annual reports available here: http://www.geneticalliance.org.uk/annual-report.htm

I am invited to speak at a wide range of conferences and meetings on issues arising from my role as director of Genetic Alliance UK, the expenses for which are met directly or reimbursed to me by the organisers. These include public, private and voluntary sector bodies in the UK and internationally. I am also the Chair of the UK Rare Diseases Forum, the body set up by the four health ministers of the UK to monitor implementation of the UK Strategy for Rare Diseases and to report on progress every two years, and a member of NHS England’s Rare Disease Advisory Group.