Angela Watt, a member of our Patient and Community Forum – a group of patients and members of the public who help shape and inform the work of the NEY GMS – reflects on her experiences both as a patient, Forum Member and as a patient representative at the recent national NHS Genomics Healthcare Summit.
I have been a member of the NEY GMS Patient and Community Forum since 2022. Five generations of my family have been affected by a rare genetically inherited kidney disease, but it was only in 2020 that we finally received a diagnosis thanks to the work of Professor John Sayer, an academic nephrologist in Newcastle who specialises in inherited kidney diseases.
I had previously worked as a specialist nurse looking after patients with rare genetically inherited diseases. I therefore applied to join the Forum as I have had first-hand experience of how genomic medicine can not only provide patients with a definitive diagnosis, but also lead to new treatments.
Pictured, Angela and family
In December 2023, I was given the opportunity to attend the NHS Genomic Healthcare Summit in London. This is an annual event where the work taking place nationally in genomic medicine is presented. It also provided a valuable opportunity for networking and meeting other patient representatives.
The NEY GMS was well-represented at the event. Alongside those of us attending there were also seven clinical staff presenting at the sessions, and a very well-received poster presentation on our genomic roadshows.
The busy programme consisted of four plenary sessions and nine breakout sessions, and I listened to a total of 28 speakers, including several patients who shared their stories.
One of my personal highlights was entitled From Bench to Bedside. The presentations in this session documented how researchers were using advances in genomic medicine to directly influence and change the management of patients. I was particularly taken by the work of Mr Richard Mair, a consultant neurosurgeon who works with patients with a type of brain cancer called glioma.
Historically there has been no improvement in survival in this cohort of patients over the last 30 years. He recruited patients who were willing to have whole genome sequencing, which allowed him to identify some potential biomarkers for future treatments, some of which are already in use in other cancers. This has led to the first platform trial in glioma patients – a type of trial where several different treatments can be trialled at the same time using one protocol.
I was also particularly interested in Delivering a Patient and Public Involved Genomic Medicine Service in the NHS. The presentations centred around the patient voice, including a talk from Chris Hynd, Chair of the East GMS Patient Forum. This forum is well-established, and its members are attached to different workstreams across the GMS, according to their particular interest. I shared this with the other members of the NEY GMS Patient and Community Forum, and we agreed that this would be a great opportunity for us to take forward as we grow.
The final session was entitled A Forward Look, where future plans were highlighted. Professor Sir Munir Pirmohamed discussed how variability in response to medicines can be due to genomic factors, explaining that 99% of us will have a pharmacogenomic fault in our genome. He went on to explain that genetic testing can reduce adverse reactions by 30%. The Progress Programme will look to embed pharmacogenomics within the NHS by moving from a reactive to a pre-emptive approach.
Dr Raghib Ali highlighted Our Future Health. This programme is looking to recruit a widely representative 500,000 participants to sign up online to have their genome sequenced. The aim is to detect and treat diseases earlier and researchers will have the opportunity to contact participants regarding future trials and research.
In a similar vein, Dr Rich Scott, Interim CEO at Genomics England, outlined the forthcoming Generation Genome project. This project is looking to recruit 100,000 neonates with recruitment taking place during pregnancy. Newborn babies will then be tested for 200 conditions, to help identify and treat any genetic conditions they find as early as possible. This programme is launching in 2024 and there was much interest about this within our Forum.
All in all, it was a busy, tiring, but informative and inspirational day. It is humbling as a patient to see all the work that is being done by total strangers to improve our lives. I’d like to thank the NEY GMS for giving me the opportunity to attend and I would recommend the event to any other patient representatives who get an opportunity to attend in the future.
Our Forum is always on the lookout for new members, so if you have an interest in genomic medicine or just want to find out more about it then please consider joining us.