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A global approach to data solves the mystery of rare diseases

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Lynsey Chediak

Project Lead, Shaping the Future of Health and Healthcare, World Economic Forum

A rare disease is not rare at a global scale. We must follow the lead of patients and collaborate globally to uncover more answers—our lives and livelihood depend on it.

As a child living with a rare disease, I accepted an uncomfortable reality: my doctor had never seen someone with my disease before and could only make educated guesses about my condition. Yet what we classify as ‘rare’ diseases at a domestic level are not so limited in number at a global level. Genetic rare diseases do not discriminate by nationality. How can doctors learn from one another across country borders?

The internet and genomics are changing norms

Patients are taking the lead, and healthcare systems need to catch up. Merely by adding a hashtag with my disease name to my Twitter biography (#arthrogryposis), I receive dozens of messages a year from people thousands of miles away with my same disease. What if we had a similar common platform for doctors to securely access de-identified health data?

Rare diseases take an average of five years to diagnosis and only 5% have a treatment approved by the US Food and Drug Administration. That is all changing, however, through DNA sequencing with genomic medicine and the ability to aggregate health data.

We are already collecting the data needed

Understanding genetic rare disease at the level of the shared difference in DNA (variants in genomic data), linked to specific observable features (phenotypic data), allows researchers and doctors to better-understand diseases; moreover, such discoveries reveal learnings about both rare and common diseases.

In the last seven years, fourteen countries have invested over $4 billion USD to create national genomic initiatives, but these national genomic initiatives are not set up to share their data to achieve the scale and volume needed to accelerate discoveries in rare disease.

We need a global approach

What is stopping national genomic initiatives from collaborating? It appears to be a people problem – predominantly, a lack of trust. Partnerships are not created instantly, and national genomic initiatives need to invest the time required to work together and understand one another’s different processes.

The World Economic Forum recently released an eight-step guide outlining how to create a cross-border health data consortium; six of the eight steps centre on difficult conversations; only two steps involve technical components.

A rare disease is no longer rare on a global stage. We have the data and must follow the patient lead embracing digital platforms to provide more answers with a global approach to rare disease.

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