SWAN UK member’s role as part of the 100,000 Genomes Project team

Introducing SWAN UK member Jillian.

I joined SWAN UK a couple of years ago, when my son Sam was quite little. His big sister Kirsty is nearly five, and doesn’t seem to have any of his problems. She’s already helping to look out for him though. I’ve been on the Participant Panel for the 100,000 Genomes Project since it began in April 2016 and became Chair in August 2017.

What does your role involve?

The panel oversees the work of Genomics England on the 100,000 Genomes Project, to ensure it always looks after the participants’ interests. We’re all volunteers and we all have busy lives, working in our day jobs and/or looking after relatives with rare medical conditions. I want our panel members to be proactive if there are matters they want to investigate and for our Panel to be heard at national level in conversations about how genomic medicine could be mainstreamed into the NHS in the next few years. I have a monthly meeting with the rest of the management team, make links with other organisations, and help to shape the agenda for our quarterly panel meetings.

What made you want to apply?

My son Sam, three, is a swan, and we signed up for the 100,000 Genomes Project in autumn 2015 when our geneticist ran out of alternative tests! We don’t know if we’ll ever get any answers from it, but this project is a very exciting thing to be part of – given its likely contribution to the future of medicine being a participant representative is a real honour. The panel gets to take its concerns all the way up to the chairman of Genomics England, if we feel strongly about an issue, and I think this level of participant involvement in health research is quite unusual.

Have you ever done anything like this before?

Not at all. I was a civil servant before Sam was born, and learned a lot there about how to set up new initiatives, so have been able to apply that to the 100,000 Genomes Project. But in some ways the best qualification I have for this job is the past three years of parenting a severely disabled child. It’s been amazing to get into this role and I feel that my recent life experience gives me a voice that people are listening to, whereas before my only contact with medical people was quietly one to one, as a parent.

How easy is it to carry out this role when you have an undiagnosed child?

The role could take up as much time as I wanted to give it, but at the moment it’s about one day a week. I have to fit things into evenings and weekends, mostly, as I’m with my swan nearly all week. My husband Nick is very supportive and recently I’ve found a childminder willing to look after Sam when I need to be away for the day, which is great.

What words of encouragement would you give to someone who hasn’t done anything like this before?

Parents of children with undiagnosed genetic conditions have to learn a lot about the health service, and how all the different bits fit together (or not)! If you can see the bigger picture, and apply what you’ve learned more widely, you’ve probably got something to offer!

Are you a SWAN UK member who has taken on a new role? We’d love to hear your story!

Email: [email protected].

Find out more about the 100,000 Genomes Project: bit.ly/100kgenomesproject

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