Uncovering the uncommon: Advances in Rare Disease diagnosis – 2024 Podcast

In 2024, Sanofi – working in partnership with The BMJ – released the Rairity: Air Time For Rare Diseases podcast series on rare diseases and rare blood disorders. In Episode 3, “Uncovering the uncommon: Advances in Rare Disease diagnosis”, Volv Global’s Clinical Innovation Director, Léon van Wouwe, joined Penny Dhanjal (Sanofi) and Stefaan Sansen (Sanofi) to explore why diagnostic delays persist – and what it will take to shorten the journey from first symptoms to the right care.

“…not knowing what’s wrong with you. That’s a terrible state of mind to be in.”
– Léon van Wouwe, Clinical Innovation Director, Volv Global

Please click to listen to the episode recording hosted on The BMJ platform.

Podcast description: “Despite years of medical progress, why have diagnostic delays remained unchanged? The panelists will delve into whether we should address rare diseases one at a time or adopt an omics approach, and how AI-based methods are transforming diagnostics now and in the future. We address what it will take to see widespread adoption of augmented support technologies and how we can expedite this process. Join us for an insightful discussion on the future of rare disease diagnosis, featuring expert perspectives on the challenges, innovations, and necessary steps for transformative change.”

Panel

• Penny Dhanjal, Global Medical Education Lead, Sanofi (host)

• Léon van Wouwe, Clinical Innovation Director, Volv Global

• Stefaan Sansen, Global Scientific Affairs Director, Sanofi

 

“We need to demonstrate that value. We need to understand the clinical utility… the position in patient care pathways… [and] the economics.”
– Stefaan Sansen, Global Scientific Affairs Director, Sanofi

 

Key takeaways

The conversation centres on a hard truth: despite advances in science, rare disease diagnosis still too often depends on chance, with fragmented care journeys, non-specific symptoms, and uneven access to specialist expertise.

• Diagnostic delay remains a defining bottleneck: patients may wait five years or more for a correct diagnosis, with significant emotional and clinical consequences.

• Timing matters: earlier identification can unlock better outcomes and change what is possible. Many rare diseases are progressive; delays can mean irreversible symptoms and missed opportunities for timely intervention. Primary care is where scale happens, so decision support and referral optimisation are essential.
  • AI’s highest leverage is earlier in the pathway: while AI already supports elements of diagnostics, the biggest impact comes from strengthening earlier suspicion and referral routing, particularly in primary care.

• Adoption is the real bottleneck: model performance alone is insufficient; success depends on clinical utility, workflow integration, pathway positioning, economics, governance, and trust.

• The future is “both/and”: the episode contrasts disease-specific workups with broader strategies (including genomics and phenotypic approaches), emphasising layered, practical methods matched to the clinical problem.

 

“It typically takes 5 years or more for patients living with a rare disease to receive a correct diagnosis.”
– Léon van Wouwe, Clinical Innovation Director, Volv Global

Volv Global at the table

Léon’s inclusion reflects a necessary reality: at health-system scale, rare disease diagnosis is not “practically human-solvable” without augmented support. The “signals” that matter are often spread across years of encounters and multiple specialties; the number of possible presentations and permutations is simply too large for any individual clinician to consistently detect.

Volv Global’s contribution sits exactly at this intersection: using privacy-first machine learning on population-scale real-world data to help healthcare stakeholders and innovators identify undiagnosed patients earlier, understand heterogeneity, and strengthen evidence for better decisions – while keeping clinical judgement sovereign.

“Clinical decision making needs to remain sovereign.”
– Léon van Wouwe, Clinical Innovation Director, Volv Global

Turning insight into earlier action

At Volv Global, we believe rare disease diagnosis improves when innovation is designed to be deployable – not just accurate. That means:

• collaborating across the ecosystem (clinicians, patient groups, regulators, sponsors, and data stewards)

• focusing on the decision points that change trajectories (earlier suspicion, smarter referral, faster confirmation)

• generating evidence that stands up to scrutiny—clinical utility, health-economic value, and real-world feasibility

• embedding trust by design: privacy-first methods, clear governance, and independent stewardship that preserves clinician sovereignty

This is the practical bridge from “better analytics” to better outcomes.

Links:

• Volv Global: We find more patients
• Volv Global: We find patients earlier
• Volv Global: We predict patient outcomes
• Volv Global: We stratify patient cohorts