Shaping the Next Era of Rare Disease - Reflecting on the Genetic Alliance UK Future for Rare Conference

Shaping the Next Era of Rare Disease – Reflecting on the Genetic Alliance UK Future for Rare Conference

Last week (September 9th 2027), around 180 passionate individuals – advocates, clinicians, policymakers, patient groups and patient representatives – gathered at BMA House in London for the Genetic Alliance UK Future for Rare Conference. The room was electric, fueled by a shared determination to translate lived experience into concrete policy change.

Turning Community Voice into Action

Over the summer, Genetic Alliance UK surveyed the rare disease community to identify core priorities across healthcare, research, and support. That feedback formed 11 distinct working groups covering key focus areas like care coordination, technology, research, and mental health. Each group was tasked with defining three foundational principles to weave directly into the next generation of rare disease policy.

I had the honor of representing our community by co-chairing the Mental Health Working Group. Bringing my perspective as a rare disease mum, a patient group leader, and a trained mental health professional, I saw firsthand how critical it is to weave psychological support into standard care rather than treating it as an afterthought.

Session 1: What Must a Future for Rare Look Like?

The morning opening session set a bold tone, tackling three core pillars: governmental accountability, access to medicines, and data utilisation.

Accountability and Data: Dr. Sarah Wynn (Unique) emphasised that real progress requires clear ownership. Someone within the government must be held directly responsible for driving rare disease strategy, and data must be structured to serve patient outcomes first.
Equity in Care: Kerry Leeson Beevers (Breaking Down Barriers) highlighted that equity isn’t about giving everyone the exact same service, but rather personalising access so everyone gets what they need. We must constantly ask: Who are we leaving behind? – whether that’s rural communities, ethnic minorities, or lower-income families.
Ending the Postcode Lottery: Sue Farrington (RAIRDA) stressed that access to top-tier care shouldn’t depend on luck. By applying existing framework standards like NICE approval equity guidelines, we can establish consistent national standards across the UK.

A recurring theme throughout the discussions was the need to connect the four nations. Instead of siloing knowledge, expertise should flow across borders so every region benefits when a strategy succeeds elsewhere.

Session 2: Addressing Ambition, Gaps and Overlaps

The second session shifted focus toward identifying gaps in our current systems and daring to build a more ambitious, holistic framework.

Visibility and Coordinated Pathways: Laurence Woollard (On The Pulse Consultancy) tackled the ongoing challenge of the postcode lottery, calling for joined-up, evidence-based care pathways that make rare conditions visible. He also reminded us of our shared duty as advocates: the rare disease community has a collective obligation to keep sharing our stories to drive change.
Networked Care and Accountability: Dr. Lynn Greenhalgh (British Society of Genetic Medicine) recognised the immense strain on the NHS, advocating for networked care that shares best practices starting right at diagnosis – the vital entry point to lifelong support. To ensure this works, senior leaders must be held accountable for implementation.
Holistic and Mental Wellbeing: Lauren Roberts from RareMinds provided a powerful perspective on identity: your rare disease is a part of you, not the whole you. Managing a condition shouldn’t swallow someone’s entire existence. Good mental health must be viewed as an outcome of whole-system change, meaning mental health policy must be fully integrated into rare disease policy rather than isolated.
Honest Evaluation: Rosie Lindup (BIA) urged the room to have transparent conversations about what is working and what isn’t, warning that without complete honesty, vulnerable individuals will continue falling through the gaps.
Data as the Benchmark: Toni Mathieson (Niemann-Pick UK) underscored that solid data collection is essential. Without accurate identification and data tracking, we simply cannot measure progress or prove whether our policy intervention is succeeding.

Session 3: Moving From Principles to Practice

The third panel, featuring Sheela Upadhyaya (Rarely Ordinary), Amy Jayne McKnight (Queen’s University Belfast), Linda Fred (Clever Clogs Consultancy), and Sam Mountney (Neurological Alliance) focused on the practicalities of making these high-level principles work on the ground.

Multi-Level Accountability: Sam Mountney highlighted that accountability exists across several tiers – individual, local, county, and national. To make this work, we need clear national baselines coupled with explicit local responsibility.
Built-in Governance: Amy Jayne McKnight argued that accountability cannot be an afterthought added at the end. Effective policy must define who is responsible, establish clear timeframes, and set clear success metrics from day one. Crucially, accountability should focus on identifying gaps and offering support to fix them, rather than merely criticising when things fail.
Establishing the Baseline: Sheela Upadhyaya reminded the room that accountability is impossible without knowing our starting point. We must thoroughly understand our baseline – what exists, where current services sit, and what resources we have – in order to measure progress and move forward effectively.

Closing Plenary: Calling Out an Unsustainable Model

To bring the day full circle, I had the privilege of sitting on the closing plenary panel alongside Nick Meade (Genetic Alliance UK), Vicky Hedley (Rare Disease Research UK), Rebecca Cosgriff (LifeArc), and Rosie Lindup (Patient Representative). As we brought the conference to a close, I felt a deep responsibility to speak openly about the heavy reality facing patient organisations today.

When asked how charities can support the rollout of this new policy, I reminded the room of the enormous volume of work patient groups are already carrying on their shoulders. From running dedicated patient days and publishing educational leaflets to funding professional counseling services and securing our own grants, charities are effectively propping up the system. This status quo is not sustainable. We cannot be expected to fill structural gaps indefinitely. What we urgently need is a comprehensive rare disease policy backed, recognised, and fully funded by the Government.

Building a Connected Future

At its core, improving rare disease care is a systems challenge, not an individual problem, and coordination across all levels of care remains key. As the conference drew to a close, the overarching imperative for turning this momentum into long-term impact became clear. Speakers stressed that we must address funding directly and secure strong political support to drive lasting progress. We must consistently evidence our community’s needs to justify policy implementation, while future-proofing through innovations like AI, so all the hard work poured into this strategy stands the test of time. Ultimately, the principles we gathered to define at this conference provide the exact glue needed to connect these fragmented systems and deliver the meaningful, measurable care our community deserves.

It was an incredible day spent connecting with so many like-minded, passionate people across our community. I am truly excited to see how the principles we defined will be put into practice, and I remain deeply hopeful that we will see genuine change, and a newly funded national rare disease policy, delivered in the near future.