Vice-Chair of Participant Panel
What brought me to the 100,000 Genomes Project and the Participant Panel
I joined the Project in December 2015 as a Rare Disease participant. Nearly a year later, I was diagnosed with a small brain aneurysm after a scheduled scan. These investigations came about after several deaths in my family from brain and aortic aneurysms, including my mother nine years ago. This led to the worrying realisation that we had an apparent fault line in our family.
The Project’s timing was perfect for our family – it enabled us for the first time to have some hope that we may shed some light on the cause of this tragedy. We remain hopeful that an eventual diagnosis may lead to a better understanding of our condition, and better testing and treatment for my family, and other families in the future.
For me, the beauty of the Project is that by combining and comparing the data of the few and rare, what were mere ‘dots’ or anomalies merge into a fresh picture, offering scientists and researchers a clearer view and patients renewed hope. Collectively, rare disease patients have immense power to unlock the unknown. Our data, which is used by researchers, is making this a reality.
When I was offered the opportunity to play a wider representative role in such a powerful and dynamic ground-breaking study, I jumped at the chance. What excited me was the opportunity to share my experience and ensure the interests of participants are always at the centre of the 100,000 Genomes Project.
My professional background is in PR and Marketing. Personally, I’m very interested in ensuring that all participant communications are clear, concise and jargon-light. Genomics England understands that it’s essential we make a complicated subject as easy as possible to understand.
My role as a Participant Panel member
As Vice-Chair, my role is to support the Chair and the Panel with their work, and push forward any actions identified in our meetings. In between meetings, we continue to represent participants by picking up any immediate issues or actions that need addressing. We are effective because we keep the momentum going and ensure patients’ voices are always heard.
I’m very pleased to say that since day one, the Panel’s input is valued at every level of Genomics England. The Panel is trusted and respected, and works hard to ensure patient interests are represented. We ensure our data is protected and used ethically by a growing number of national and international researchers looking to carry out pioneering research and progress our understanding of rare disease and cancer.
As the Project moves forward to the next stage, the Panel has the unique and exciting opportunity to use its varied experience to shape the mainstreaming of genomic medicine within NHS care. This is a privilege and I’m incredibly excited about the possibility to embed patient experiences and interests into the future design of genomic medicine in the UK.
Highlights so far
The Panel is made up of participants from the Rare Disease and Cancer sides of the Project. Personally, and professionally, we all come from different walks of life. For me, the highlight has been getting to know the amazing people on the Panel and sharing our stories. My disease is so rare that there isn’t a ‘support group’. The Panel is my support network and, although our journeys are very different, we share a common understanding and a passion for driving positive change.
This passion and drive has already had a real impact for participants of the Project. The Panel worked hard to drive forward the introduction of the ‘Track My Sample’ service. We have also seen how our suggestions and recommendations have had an impact on participant communications and engagement at every step of the process, from consent to receiving results and additional results. The Panel is also actively engaged in key committees of Genomics England. Its members sit on the Access Review Committee, the Ethics Advisory Committee and the GeCIP Board.
During the course of this year, the Panel will be working on a piece of patient-led research using data collected by the Project. We are just in the early stages of exploring what is possible and what subjects we may tackle. This work is pioneering and supports the Chief Medical Officer’s aim to develop meaningful partnerships and open dialogue between medical and patient communities. We will also be looking at how we can make the current or planned research projects more visible and transparent to the participant community.
Future plans and hopes
As Vice-Chair, everyday I am learning something new about the Project, patients’ needs, or the wider world of genomics. I have recently embarked on an online course to try and improve my scientific knowledge!
What has struck me throughout is that analysing a genome and moreover interpreting the results is more complex and time-consuming than I ever thought. The process is time and people-intensive. As a patient signing up, I had naively believed that my sample goes into a machine and a result eventually pops out, is quality checked and sent back. I hadn’t fully appreciated the teams of dedicated scientists, clinical specialists and bioinformaticians that touch my sample at every step of the process, ensuring a quality and reliable result is delivered that is founded on the latest medical and academic knowledge. I think there is more work to be done to explain the processes and communicate the steps that go into a diagnosis.
The Project is due to reach its 100k target by the end of 2018. This isn’t the end of the road for the Project or the Panel. There is a great deal of work still to be done.
The 100,000 Genomes Project will transform the NHS forever, thousands more patients will benefit, and millions of pieces of information will be included into the database. The key to success for mainstreaming genomics within routine care is ‘trust’. Patients need to trust their data is being used wisely. And this is where the Panel comes in. We will continue to play our role in championing and safeguarding our data and ensuring our views are sought and heard at every step, which in turn will build trust and transform care for many years to come.
I look forward to working on the patient-led research which I think is an incredible and unique opportunity, and all the projects ahead and using my experience as a patient, mother and daughter.