In decades past, the great institutions of research and academia were often perceived as impenetrable fortresses, with their activities taking place behind closed doors. Direct interaction between the patients most affected by the research and the researchers themselves was limited; opportunities for patients to have any influence on the research itself was almost unheard of.
Since the 1990s, patient and public involvement (PPI) has become a buzzword in the world of research. The importance of having those who the research will most fundamentally impact involved in the research itself is now widely recognised as crucial. However, there have been accusations that the current model of PPI may have limited impact on the research itself, and at its worst, veer into 'tokenism'.
A recent episode of The Genetics Podcast, presented by Dr Patrick Short of Sano Genetics, delves into the topic of 'patient-led research', a vision for a future in which patients and researchers work side-by-side in conducting research which will have a larger positive impact on patients' lives. The episode is an extended interview with Jillian Hastings Ward, independent chair of the participant panel at Genomics England and board member of the CureGRIN Foundation. Jillian's experience in these positions, and as a mother of a son with severe disabilities due to a fault in the GRIN1 gene, positions her to be an excellent guide to patient-led research and the world of patient advocacy networks more widely.
The interview begins with an overview of Jillian's introduction to patient advocacy. She describes the agonising journey her family undertook to try and find the cause of her son's disabilities, which led to their eventual referral for genetic testing and enrolment in the 100,000 Genomes Project. One year later, Jillian embarked on a 'secret shopper' expedition to track down the results of their genetic testing. Apart from providing them with a long-awaited answer (Sam was the first NHS patient diagnosed with a GRIN1 disorder), Jillian's 'stress-testing' of the 100,000 Genomes Project's systems resulted in the creation of a sample tracking service, highlighting the need to involve patients early on in the development of research studies to ensure patient experience is not neglected.
Jillian goes on to describe the formation of the CureGRIN Foundation, a patient advocacy group representing families affected by multiple GRIN disorders. She discusses the importance of priority-setting and how the foundation initially chose to focus on three areas: building a community, creating a patient registry, and investigating mouse modelling for GRIN disorders. Whilst campaigning for research into a cure for ultra-rare genetic conditions may seem unrealistic, Jillian emphasises that it's not all-or-nothing: 'We love our kids to bits; it would be great if they could find the things they find difficult a little less difficult.'
The importance of building connections between researchers and patient advocates is demonstrated by a fascinating anecdote in which Jillian recounts finding a Canadian researcher who bred GRIN mouse models for Alzheimer's research but had no idea that there were humans with GRIN disorders too! Their conversation led to an intriguing comparison between various characteristics shared between the mouse models and the children with GRIN disorders. Other opportunities such as artificial intelligence (AI)-driven screening for orphan drugs are highlighted, further emphasising the vital importance of raising the profile of rare diseases to increase their chances of being considered for research.
Dr Short asks some excellent questions, probing what the future of patient-led research might look like. Will small patient advocacy networks be funding research groups to investigate their specific priorities in the near future? How will this impact on the research landscape and clinical development programmes? Jillian provides some interesting food for thought, but this topic could be explored in much greater depth.
A large chunk of the episode deals with the practicalities of setting up a patient support network online, the difficult balance between accessibility and privacy and the advantages and disadvantages of different platforms for creating a community. Whilst interesting and exceptionally well presented, I think many listeners specifically tuning-in to a genetics podcast would have appreciated it if more time devoted to discussing the privacy concerns surrounding Facebook had been spent delving into the science-side of patient-led research and patient-supported research networks.
There are other topics touched on in the episode which I also think deserved a more thorough investigation. The ethical challenges associated with informing patients of genetic disorders is discussed briefly; not all patients want to know about potentially pathogenic genetic variants which don't have treatments or cures, and preferences can shift with time, something which consent systems should be able to facilitate.
In a thought-provoking snippet, Jillian explains: 'For the first three months of [Sam's] life…life was good! I wouldn't have wanted anyone to take that happiness away from me.' Jillian also gives the listener a small glimpse into the all-consuming nature of patient advocacy, and the particular challenge of balancing campaigning on Sam's behalf and actually spending time with him. I would be very interested in hearing more about these topics, but the length of the episode doesn't provide an opportunity to explore every detail in depth (You can find out a bit more about her family's experience of life in lockdown in Jillian's recent BioNews article 1043).
This episode is a fascinating and well-produced interview with a hugely impressive and inspiring woman. The interviewer leads the conversation adeptly, covering a vast array of topics and teasing out some fascinating insights. It is 40 minutes well-spent for layperson or scientist alike and would be particularly valuable listening for others involved in patient advocacy. The episode concludes with Jillian's three top tips to patient advocates just starting out on their journey. It left me wanting to learn more from Jillian's wealth of personal and professional experience and the first thing I did once the episode was finished was listen to the next one available.