Gene Editing Perspectives Study

What is this study about?

The genetic code of an individual can be likened to an instruction manual for the body, telling it how to grow, develop and function. Sometimes, when there is a change in this genetic code, a section of the manual has a spelling mistake, meaning the body cannot read the manual and function as it should, giving rise to genetic disease.  Genetic diseases are inheritable and so can pass from parents to children.

Scientists have developed technologies known as ‘gene editing technologies’ that can find these spelling mistakes and correct them so that they cannot be passed onto the next generation. This is known as germline editing. Whilst this would end the inheritance of a particular disease within a family, the technologies carry lots of ethical and social implications.

Germline gene editing does not currently have a license for use within the UK. As it has the potential to impact the welfare of the human population as a whole, everyone has a stake in the decision whether or not to legalise its use. This research study, conducted by a student who is enrolled on the MSc in Genetic and Genomic Counselling at Cardiff University will aim to gather an understanding of the experiences of individuals and/or family members who have a mitochondrial disease and their perspectives on the use of germline gene editing technologies for reproduction to add important viewpoints to the general discourse on these revolutionary technologies.

Who can take part?

The study is aimed at anyone aged 18- 40 years old who either has a diagnosis of mitochondrial disease or is a partner or parent of someone with mitochondrial disease.  All participants must be able to understand, read and speak English and be able to provide written consent to participate in the research.

What is involved in taking part?

The study will consist of taking part in a maximum of two telephone or Skype interview’s (or similar video conferencing app of your choice) that will last approximately 30 minutes to 1 hour. Prior to the interview you will be sent 2 short videos to watch so that you have an idea of the topic of gene editing. Following watching the videos, you will have the opportunity to ask the researcher any questions you may have and follow up with your own research should you wish (although this is entirely optional).

During the interview, you will be asked questions on your experience of mitochondrial disease and your reproductive options as well as your perspectives on the use of gene editing technologies for editing germline cells. With your permission, the interview will be audio recorded and transcribed for analysis under an anonymous pseudonym, removing any identifying details.

We are hoping to interview approximately 15 people, 50% of which have a nuclear DNA variant and 50% with a mitochondrial DNA variant.

Are there any risks?

There are some people who may find it difficult or distressing to talk about mitochondrial disease and the impact it has on their family. If you find the interview distressing, you may take as many breaks as you want, or you can stop the interview. You do not have to answer any questions you find upsetting and you may withdraw from the study at any point without having to explain your decision.

Who will benefit?

Although this study is unlikely to provide you with any direct advantages or benefits, by providing an input from the perspective of a person for whom these technologies could theoretically help, you will be making a essential and valuable contribution to the general discourse required before an amendment to legislation may be considered

How do I find out more?

The research is organised by the School of Medicine in Cardiff University. It is being conducted by Charlotte Pemberton, an MSc Genetic and Genomic Counselling Student at Cardiff University, and supervised by Rebecca Dimond from Cardiff University School of Social Science.

Should you have any questions relating to this research project or would like to take part, please contact Charlotte Pemberton on [email protected]

Thank you for considering to take part in this research project. If you decide to participate, you will be given a copy of the Participant Information Sheet and a signed consent form to keep for your records