Jillian Hastings Ward is Chair of the Participant Panel at Genomics England. The Panel acts as an advisory body to the Genomics England board to ensure that the data collected by the 100,000 Genomes Project is being used in the best interests of the participants. Jillian is also a board member of the CureGRIN Foundation, a new charity set up to find treatments and cures for patients with GRIN gene disorders.
This interview was conducted by Aditi Babel
FLG: Can you introduce yourself and your work?
I am Jillian Hastings Ward, and I am the parent of a child with a very rare disease. My son is now nearly six but has the mental capacity of a child who is around six months old. He doesn’t walk, he doesn’t talk, is significantly sight impaired, epileptic and has a severe mental delay.
When he was born, we didn’t think there was anything wrong. It was only when he was around three months old that we realised that he wasn’t seeing much. By his first birthday, he was missing all of the milestones that you’d expect so we had all of the tests that were available on the NHS at the time, but nothing was found.
We were invited to join the 100,000 Genomes project in autumn 2015 when my husband, my son and I gave blood samples together.
Around six months later, Genomics England were looking for volunteers to join a Participant Panel which was bringing together people with lived experience of genomic testing, to come and advise them on how they can keep their project participants’ interests at heart.
I have been on the panel since 2016 and became its Chair in the summer of 2017.
FLG: Can you tell us about what you learned about your son as a result of the project?
We got a diagnosis for my son: he was the first person to be discovered by the NHS to have a variant on his GRIN1 gene.
The conversation we had with our geneticist the day we got the diagnosis showed that he had not inherited the variant from either of us parents. We were delighted because it meant that the rest of our family is very unlikely to be affected.
This was definitely uncharted territory! Our geneticist could only find three published articles about the GRIN1 gene at the time and asked us to confirm if these fitted with my son’s symptoms. This reshaped the relationship we had between patient and clinician; it became a lot more collaborative. We’re now seeing more of this type of collaboration for other rare disease patients too, which can only be a good thing.
One really great thing has been finding other parents with GRIN children around the world. Last year we set up a charity, the CureGRIN Foundation, based in the USA, to drive forward research into GRIN gene disorders and we are off to a flying start, with support from the Chan Zuckerberg Initiative’s #RareAsOne programme.
FLG: How has your experience been with other doctors along the way, has it been as collaborative?
Interestingly, we see a paediatric neurologist every six months or so, and with the most recent one I met, we were able to go and give him a guide that we have prepared about GRIN patients that we have put together with other GRIN parents around the world. He found this helpful, and can now share it with any other GRIN families he meets in other clinics.
FLG: How have you found your involvement with Genomics England?
Genomics England has been very welcoming and took us very seriously right from the beginning. They have always funded the time that we have spent doing the work with them and showed that they really value us as equal contributors. I think this shows how strong the levels of trust are within the project.
Initially, Genomics England had an idea of what roles they wanted us to fill in terms of formally putting participants on different decision-making forums within the organisation, which has been working well. As time has gone by, they also now ask for our input on other matters including advice to Ministers and the Chief Medical Officer about genomics and its impact on patients and their families. It’s great to be invited to contribute this way and demonstrates that we are adding value!
FLG: Do you have any examples or personal stories of how something you have shared with an organisation or a clinician that has helped them as well?
One of the examples from the panel with Genomics England is: nobody had sequenced 100,000 genomes before the project, so nobody knew exactly how long it would take. Some of the people who signed up early have had to wait years for a result. There was some concern among project participants that they had been forgotten, or that their lab samples had been lost.
The Participant Panel asked Genomics England to introduce a tracking service so that participants could find out where they were in the pipeline and be reassured that they hadn’t been forgotten. This has been of enormous value to a lot of people out there and improved their experience of participating in a project like this.
FLG: Why did you decide to participate in the Festival of Genomics?
I spoke at the last two years’ events and was getting lots of adverts ahead of this year’s event which seemed to be missing any patient voices. So I raised this directly with the event organisers, and they invited me to help develop a patient-led keynote session. This was a great response from them and I’m really pleased with how well the session has gone. There is so much insight that patients and their representatives can add to the industry’s wider understanding of rare diseases. Hopefully, there will be even more examples to share next year!