EXPERT REACTION: First baby born using 'three person IVF' to treat mitochondrial disease

Embargoed until: Publicly released:
The first baby conceived using DNA from 3 people in order to prevent mitochondrial disease has been born in Mexico, according to research to be presented at the American Society of Reproductive Medicine (ASRM) conference. The five month old baby boy was conceived using a technique known as spindle nuclear transfer, where the nucleus of the mother's egg is transplanted into a donor egg with healthy mitochondria which has had its own nucleus removed. Because mitochondria have their own small amount of DNA, once the egg is fertilised via IVF, the embryo contains the genetic material from three different people. The technique was used in order to try and stop the baby developing the mitochondrial disease known as Leigh Syndrome. In Australia this type of technique is not permitted under the current legislation.

Organisation/s: Australian Science Media Centre, Monash University, The University of Sydney


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Expert Reaction

These comments have been collated by the Science Media Centre to provide a variety of expert perspectives on this issue. Feel free to use these quotes in your stories. Views expressed are the personal opinions of the experts named. They do not represent the views of the SMC or any other organisation unless specifically stated.

Professor Carolyn Sue is Professor and Director of Neurogenetics at the Kolling Institute, University of Sydney

This is a landmark case for patients and families suffering from mitochondrial disease. Hopefully this information will give hope to those families who have to make the difficult decision to embrace new technologies such as spindle nuclear transfer in their quest to have better health for their children. This is a courageous step forward and further information about the progress of this child and those that follow will be key to our understanding of whether this therapy should be offered in the long run.

Last updated: 03 Nov 2016 8:11pm
Dr Doug Lingard is the Chairman of the Mito Foundation.

This is an exciting major advance which could for the first time provide women with mitochondrial mutations the choice of having children not affected by debilitating mitochondrial disease.  As such it is heartedly welcomed by the Australian Mitochondrial Disease Foundation.

Last updated: 03 Nov 2016 6:49pm

Professor Justin St John is Professor and Head of the Centre for Genetic Diseases at the Hudson Institute of Medical Research, Monash University

It is very hard to comment as this is just a meeting abstract where all the important relevant information is not available.

As this technology is controversial and a world first, I think the investigators should have submitted a manuscript for full peer review instead of announcing these outcomes in this manner. The review process would have ensured complete validation of the data and provided a tested platform from which to conduct a debate about the degree of achievement. As it now stands, there will be much conjecture. For example, there will be much discussion about whether sufficient tissues in the offspring were analyzed to draw reasonable conclusions about the low level of mtDNA mutation transmitted.

Furthermore, as part of the peer review process, the genetic testing results would have undergone rigorous assessment and further analysis could have been requested to ensure no doubt existed. Until we know these outcomes, it is very difficult to comment.

Nevertheless, if all the validations are sound, this represents a first for the treatment of some very serious disorders. However, extensive monitoring will be required as there has been limited testing of this technology in appropriate animal models.

Last updated: 03 Nov 2016 5:46pm
Dr Ainsley Newson is Associate Professor of Bioethics at the University of Sydney

This couple’s decision to use mitochondrial replacement – after four miscarriages and the deaths of two children – is unlikely to have been taken lightly. They have also chosen to use maternal spindle transfer (MST) as it may lead to less embryo destruction than other forms of mitochondrial replacement. Ethical aspects of this technique, such as the cost of the technology and the value of having a genetically related child need to be weighed against the value for this couple. But, the manner of this particular case is disquieting. The treatment location seems to have been chosen due to there not being any regulations in place. This is in stark contrast to the UK, where specific regulation was developed after a lengthy process of scientific, legal and public engagement. There has also been less research into MST than other approaches, raising safety aspects.
While research on some forms of mitochondrial replacement in Australia may be possible under licence, the format of our cloning laws means that performing MST in either a research or clinical setting would be illegal. Given advances in this area, Australia needs to look at how its laws can keep pace with fast-moving technologies like this one.

Last updated: 03 Nov 2016 5:01pm
Professor David Thorburn is co-Group Leader of Brain & Mitchondrial Research at the Murdoch Children's Research Institute.

A brief conference abstract has been published reporting that the first baby has been born using a mitochondrial transfer procedure. This is potentially very good news for families affected by severe mitochondrial disease and I am a strong supporter of the process in the UK around introducing similar procedures. That has involved a nearly 10-year process of excellent science by one of the leading international mitochondrial disease research groups combined with detailed regulatory oversight, ethical review, community consultation and legislative review.

There is insufficient information in the abstract to be confident whether an appropriate process has been used in this study. I find it concerning that the American group may have bypassed ethical and regulatory oversight by performing the procedure in Mexico, where the lead author was quoted as saying "there are no rules".

In the UK, a licence will need to be issued by the regulatory authority for each couple wishing to access mitochondrial transfer to ensure that it is a suitable approach based on genetic testing.

Based on the limited information it is unclear if the couple were advised that an alternative well established approach of pre-implantation genetic diagnosis may have been well suited to their specific circumstances. Full publication of the details will hopefully make it clear that the procedure and the advice provided to the couple were appropriate but that currently remains unclear.

Last updated: 03 Nov 2016 4:00pm

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