At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.
The Diagnostic Odyssey
For people living with rare conditions, the search for a diagnosis is often described as an “odyssey” — a long, exhausting journey through healthcare, marked by misdiagnoses, delays, and uncertainty.
At our Companies Forum meeting on Reducing the Diagnostic Odyssey in Rare Disease (14 July 2025 at Friends House in London), experts from research, healthcare, industry, and patient organisations came together to explore how we can shorten this journey and create a more equitable system.…
Why diagnosis matters
A timely diagnosis is critical: it connects patients and families to treatments, support networks, and clinical research. Global milestones — from the UN Resolution on Rare Disease (2021) to the WHO Resolution (2025) — underline that diagnosis is not just a medical matter but one of equity and justice. Yet, systemic barriers still stand in the way.
Screening for rare diseases
Anna Need (Genomics England) presented the Generation Study, a national research study sequencing genomes of 100,000 newborns to assess the feasibility and impact of whole genome sequencing (WGS) into NHS newborn screening. So far, more than 14,800 babies have been enrolled, with dozens of suspected cases identified.
Key principles of the study include informed consent, workforce training, equitable access, and ensuring results are acted upon with proper care pathways, with sensitivity at all stages.
Meanwhile, Iyamide Thomas (Sickle Cell Society) reflected on lessons from the UK’s national sickle cell screening programme, introduced in 2004. The UK was the first country to link their antenatal and newborn screening programmes. It has saved lives by enabling early treatment, but challenges remain.
“You screen to care. Screening only works if results are communicated clearly, promptly, and with support.” – Iyamide Thomas
Beyond the genome
Even when whole genome sequencing is available, only about a third of rare disease patients currently receive a diagnosis. Gemma Chandratillake (NHS East Genomics) explained how other ‘omics’ — including transcriptomics, proteomics, and metabolomics — alongside AI, can help to provide the missing pieces.
From facial recognition tools that support diagnosis to algorithms that predict protein structures, technology is moving quickly. Some approaches are already in use within the NHS, while others are still research-based. The challenge is choosing the right test at the right time.
It’s not just about sequencing more. It’s about bringing together the right tools, at the right stage, for the right patient
Harnessing data and AI
Health data holds untapped potential to flag undiagnosed rare disease cases. Elizabeth Varones (Mendelian) shared how their MendelScan platform analyses electronic health records using 50+ disease-specific algorithms. This helps identify at-risk patients earlier and supports equitable access to testing and trials.
Similarly, Saran Muthiah (Enrich My Care) described how their platform, initially designed for care coordination, is evolving into a diagnostic red-flagging tool. By enabling families to upload structured and unstructured health data — from clinic notes to video clips — the app can triage cases faster, reducing waiting times for conditions like epilepsy.
Both speakers stressed the need for NHS adoption and interoperability to realise the full impact of these innovations.
Embedding diagnosis in policy
Policy levers are vital to embed rare disease diagnosis into the health system. Liz Hookham (LifeArc) presented recommendations from a UK task force, calling for stronger registries, adoption of ICD-11 coding, and a national rare disease clinical director to champion change.
Meanwhile, Sue Farrington (RAIRDA & SRUK) outlined progress toward the first ever NICE Quality Standard for Rare Diseases. After consultation with over 500 stakeholders, the proposed standard includes timely referral, recognition of undiagnosed patients, and integration of genomics. The main benefit of this initiative over current best practice guidelines is that quality standards are audited which will help drive their use.
A quality standard gives families something powerful: accountability. It creates benchmarks we can measure against
The scoping exercise is complete with around 20 proposed quality standards that needs to be refined 6-8 for the final.
There was much excitement in the room to hear of this happening!
Key takeaways
Throughout the meeting, several common themes emerged:
- Equity must be central: underserved groups face the longest diagnostic delays.
- Genomics is not enough: combining omics, AI, and patient-led data is key.
- Data matters: registries and interoperable systems underpin progress.
- Patient voices drive change: advocacy groups play a critical role but need sustainable support.
Looking ahead
The forum showed that ending the diagnostic odyssey is not just about technology, but about trust, collaboration, and political will. With the right tools and policies, we can shorten the journey to diagnosis and ensure no family has to navigate it alone.
The ultimate goal is simple: faster answers, fairer care, and better futures for people with rare diseases
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