25 Jul, 2019
Demystifying Genomics for Patient Registries
Patrick Short shares his highlights from the Demystifying Genomics for Patient Registries event held on Thursday 11th July 2019 and hosted by Sano Genetics.
Presented by Jillian Hastings Ward, Chair of the 100,000 Genomes Project Participant Panel
- Jillian is the chair of the participant panel of Genomics England - her son was diagnosed with a mutation in GRIN1 as a result of the project.
- Genomics England has made patient involvement an essential part of the project from the outset, and the participant panel has a say in every major decision.
- In October 2018, Secretary of State for Health and Social Care Matt Hancock announced an ambitious vision for genomic healthcare in the UK. This vision includes whole-genome sequencing for all seriously ill children with a genetic disorder, as well as expanded research, and perhaps even a volunteer cohort (this is still in the 'exploring feasibility' phase).
- There is still a huge need for support post-diagnosis - a key part of this is expanded access to genetic counselling, and education across the NHS.
Presented by Allison Watson Co-Founder of Ring20 Research and Support UK
Watch the full talk on Youtube
- Ring chromosome 20 is an ultra-rare disease - the main symptom is epilepsy (which does not respond to treatment) - Ring20 typically starts not at birth, but between 4 - 10 years of age.
- Ring20 is incredibly underdiagnosed - it is not detectable with next-generation sequencing (karyotyping is the best detection method). It can also be mosaic (not present in all cells) meaning that even karyotyping can miss it if not enough cells are examined.
- As a result, the diagnosis rate of Ring20 is probably decreasing not increasing.
- Allison co-founded Ring20 Research and Support UK where she is helping to create a registry, and pursue a research strategy, but there are myriad challenges including securing funding (most is via family fundraising today) and finding academic collaborators.
- They are raising funding for a 2-year natural history study, and already conducting some patient-led research with the University of Cambridge on the effect of a Ketogenic diet.
- Discussion after Allison's talk centred around how other groups in the room found their academic collaborators (persistence and finding a truly passionate academic) and on potential applications of new technologies (e.g. long-read sequencing) to detect Ring20.
Presented by Neil Bennett, Director of Research at Action Duchenne
Watch the full talk on Youtube
- Duchenne Muscular Dystrophy is a rare condition that affects mostly young boys (starting around 4) and affects the muscles as well as often the heart and lungs.
- For a long time, corticosteroids were the main treatment. When next-generation therapies including exon skipping, and gene therapy came on the scene, it was clear that building a community in the UK would be essential to see the benefits of this.
- Neil described ActionDuchenne and their thriving patient registry, which was created by a parent with IT skills back in 2006! The steering committee includes parents, clinicians, and geneticists.
- The registry holds both genomic information as well as patient-reported information that is updated regularly - but at 2,000 members it can be challenging to keep it updated!
- A big focus of ActionDuchenne going forward is determining how to get more clinical information into the registry to better enable research and matching to clinical trials.
Presented by Dr Janet Allen, Director of Strategic Innovation at the Cystic Fibrosis Trust
- Janet described the history of Cystric Fibrosis (CF) and how our understanding of the disease mechanisms (fewer channels and channels being 'stuck closed' being the two primary mechanisms) evolving over the years
- The CF Trust's incredible work on genotyping patients, and updating this data over the years has allowed them to match patients with new precision medicines that have extended lifespan substantially.
- Going forward, Janet and the CF Trust are working on a strategy to incorporate more patient-reported and real-world data in their registries.
- There was excellent discussion led by Janet and Neil around the advantages and challenges of the two somewhat contrasting models of registry (clinically led, versus patient led).
One big takeaway from this session: It is hard to predict exactly how the registry will take shape over the years - often the way it starts is dependent on who is passionate and organised in the beginning. Janet recommended not to get tied up into the details of planning the registry to perfection, but instead to start somewhere and build on top of a strong foundation!
Presented by Professor Lakshminarayan Ranganath, Consultant in the NHS and Trustee of the AKU Society
Watch the full talk on Youtube
- Dr. Ranga described his work on the severe recessive metabolic condition Alkaptonuria (AKU) which was actually the first Mendelian condition described!
- More than 100 years later, Dr. Ranga and his collaborators at the AKU Society and Dr. Zatkova in Italy have run a series of studies in the UK, and now a European-wide clinical trial to establish Nitisinone, a weed killer, as a safe and effective treatment for AKU.
- Dr. Ranga emphasised the importance of collaborative science in Rare Disorders - success in most cases requires collaboration from patient groups, academics, the NHS, and pharma companies working toward a common goal.
Healx: Engaging with Industry to Develop New Treatments
Presented by Meera Swami, Charity Partnership Manager at Healx
- Meera described the core technology behind Healx, a knowledge graph called 'HealNet' that keeps track of relationships between disorders, treatments, and genomic data including RNA and DNA sequencing.
- Healx has been able to decrease the cost of developing drugs in rare conditions by more than 20-times - from $2-3 Billion down to just ~$70 million by repurposing drugs that have already proven to be safe in humans.
- Meera announced the Healx 'Rare Disease Accelerator' is launching in September which invites patient groups to collaborate with Healx to develop treatments for their disorder.
- The Rare Disease Accelerator asks patient groups to provide data from their registries, expertise, and connections to researchers while Healx provides in-kind access to the HealNet platform and expertise in drug development.