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Sharing rare data for a common cause

The information that gathers in our wake as we move through life and health centre or hospital waiting rooms is a powerful tool for medical research. Cecily Berryman tells us how a health emergency brought discussions about data science to the heart of her family.

Three years ago my husband suddenly became very ill. He needed emergency surgery to fix a tear in his aorta, the huge artery that carries blood as it pumps away from the heart. Afterwards the surgeon called it an ‘acute aortic dissection’ and mentioned it was likely to be a connective tissue disorder that has a genetic cause. Extensive testing revealed it was not a known disorder.

We have three sons so there was a lot of discussion in our house about if, and when, they should find out if they have the same health problem as their Dad. Tests eventually revealed our two eldest children are definitely affected. Our youngest son doesn’t appear to show any signs but it’s possible there’s a genetic component we don’t know about yet and that uncertainty has been challenging to live with.

What we can do is share our health data

Our conversations with geneticists in Exeter led us to the 100,000 Genomes project and I feel we are lucky to have joined. I know health research that collects data about an individual’s genome, their personal genetic information, is a long-term process but even if it doesn’t find answers soon I’m glad our information is still in the pot. It’s possible we’ll never find an exact cause for the aorta condition that affects our family but sharing our health data is a way that we can try to find answers.

I’m on the patient participant panel for 100,000 Genomes and the project’s access review committee, that’s how I was introduced to the MRC and the new Health Data Research UK organisation that aims to use data science to learn more about what influences human health. As a member of a lay interview panel I helped to recruit Professor Andrew Morris to be HDR UK’s first Director.

Pooled data has phenomenal potential

Health data has to be the future of medicine. As I understand it data just has so much potential, it can reveal causes of ill health, suggest preventative measures and direct more certain treatments. What has been most interesting so far is seeing the calibre of researchers that want to lead health data research, their ideas and skill are just incredible.

Taking part has helped me to cope with the impact on my husband and children because really all I can do is be an observer. If there’s a genetic cause for their aorta condition waiting to be found then it helps me to know that we’ve done all we can to help discover it. Hopefully by sharing our data we’ve also played a small part in helping other families.

Data is shared but participation is personal

I firmly believe that making a decision to share your health data for research is a personal one. People who are willing to share need to have absolute trust that their data can be made anonymous, securely protected and only available to permitted researchers. My three sons all had different opinions on how much they wanted to know about their potential future health and on what they wanted to share.

As a family we chose to contribute to the rare diseases element of 100,000 Genomes because we would like to see researchers come up with answers that help better understand and treat the aorta condition. I can see many advantages for mass sharing of health information too.

For anyone who is thinking of taking part in a data project but is unsure I’d say think about not only what it could mean for you but how your data could help other people. My hope is that by sharing my own family’s health data we’ll have contributed to healthy outcomes for future families and that’s a decision I’m very happy with.

 

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