Global Data Access for Solving Rare Disease

Rare but not uncommon

“A more integrated system of gathering genomic data offers a solution with potential channels for return on investment” is the focus of the recent World Economic Forum project on Rare Diseases.

Only 5% of the 475 million people with rare disease have a treatment. Given that 80% of these diseases have genetic causes (meaning that people tend to be born with a rare disease), sufferers are highly likely to be children, with 30% of them dying before they reach their fifth birthday – often without a diagnosis. More than 450 million people – near the populations of the USA, Australia, Canada, and the UK combined – are living without a treatment or an opportunity to get better.

Rare diseases consume a disproportionate amount of healthcare resources relative to their prevalence. A recent study showed how diagnostic testing and specialist consultations during the first year of a patient’s diagnostic odyssey cost approximately $2,190. For every additional year that a patient remains undiagnosed, a further $592 is incurred. Annual travel costs and caregiver productivity loss associated with attending diagnosis-related medical appointments are estimated at $1,449 per family.

And these are just the direct financial costs. The emotional strain and the impact on many other aspects of life, such as ability to work (carers as well as sufferers) and mental health, are harder to quantify but no less important or costly.

The “Global Data Access for Solving Rare Disease A Health Economics Value Framework” white paper addresses such important aspects associated with rare diseases. A must read paper.