New papers challenge health systems to rethink rare diseases

As the world marks Rare Disease Day, two influential new papers are prompting renewed calls for global action to improve the lives of more than 300 million people living with a rare disease.

Perth-based clinician and researcher Dr Gareth Baynam, Medical Director of the Rare Care Centre at the Child and Adolescent Health Service (CAHS), has co-authored both papers – one with the World Economic Forum (WEF) and another published in The Lancet.

Together, the papers challenge health systems, policymakers and researchers worldwide to think bigger and act faster on rare diseases by strengthening global data systems and changing the language used in clinical care and research.

A multitrillion dollar case for investment

The WEF white paper, Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion Dollar Opportunity, outlines the scale of untapped value that could be realised through coordinated investment in rare disease data systems.

The report states that rare diseases collectively impose a global annual cost exceeding US$7 trillion, with most of the burden hidden in fragmented, poorly measured systems.

It argues that better data is essential to “turn a multitrillion dollar challenge into a shared opportunity for innovation and impact”.

The paper also notes that rare disease innovation drives medical progress more broadly, stating that “the innovations incubated in this space… have transformed medicine itself.”

Dr Baynam said the WEF paper highlights why rare disease must be viewed as a global public health priority, not a niche issue.

“Rare diseases are individually rare but collectively common – and the data shows the case for investment is overwhelming,” Dr Baynam said.

“Better data means earlier diagnosis, smarter care, reduced suffering and death, stronger research and real economic value for society.”

“When we make rare diseases count, we improve systems for everyone.”

A call for systemic and empathetic language

In a separate article published in The Lancet, Language in Rare Disease: A call for systemic and empathetic action, Dr Baynam and co-authors argue that language is a powerful but often overlooked driver of health outcomes.

The paper emphasises that kind, accurate and person centred communication is “the first pillar of ethical engagement and a therapeutic imperative,” noting that language used by clinicians “can either build a bridge or erect a wall” for families navigating rare disease diagnoses.

It also calls for global action on standardised terminology and improved disease coding.

“The inconsistent use of disease names, outdated classifications, and lack of sufficient codes… obscures the true prevalence of rare diseases, impedes access to treatments and limits research coordination.”

Dr Baynam said language is a lever for equity.

“Language shapes care, shapes research and shapes people’s lives,” he said.

“When we choose words that are precise and culturally respectful, we create better pathways to diagnosis, support and understanding.”

Messages resonating on Rare Disease Day

Rare Disease Day is observed annually to raise awareness and improve outcomes for people living with rare, genetic and undiagnosed conditions.

Dr Baynam said this year’s messages feel particularly significant.

“These papers remind us that progress is both possible and urgently needed.”

“People living with a rare disease, their families and those who care for them deserve systems built on kindness, accuracy and evidence.”

Read the papers:

• Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion Dollar Opportunity (World Economic Forum)
• Language in Rare Disease – A call for systemic and empathetic action (The Lancet)