Ndubuisi Francis in Abuja
The World Economic Forum (WEF) has unveiled a new paper that seeks globally-coordinated approaches to diagnose and treat rare diseases with a view to creating new knowledge and informed solutions to improve the lives of people living with such ailments.
A Rare Disease Day was celebrated for the first time in Nigeria in 2017, a day which involved talks to increase the understanding of rare diseases, the problems facing Nigerian patients, and how society could change its attitude towards such patients as well as the need for funding the research.
Most rare diseases are genetic and are present throughout a person’s entire life, even if symptoms do not immediately appear.
Among numerous possibilities, rare diseases may result from bacterial or viral infections, allergies, chromosome disorders, degenerative and proliferative causes affecting body organs. Such diseases may be chronic or incurable, although many short-term medical conditions are also classified as rare diseases.
The WEF paper titled: ‘Global Access for Solving Rare Disease: A Health Economics Value Framework’, written by health economists from the United Kingdom, Australia, Canada and the United States of America, proposed the first global framework illuminating the potential economic benefits of securely sharing genomic data for the purposes of diagnosing and treating rare diseases.
It called on countries to test out a federated data system model in order to fully understand the benefits.
WEF is partnering Genomics England, Australia Genomics Health Alliance, Genomics4RD, and Intermountain Precision Genomics in the UK, Australia, Canada and the US respectively, to lead a proof of concept of such a federated data system by the summer of 2020.
The new paper, which is seeking a global synergy against rare diseases, also includes 14 patient stories from the four countries of focus-the UK, Australia, Canada and the US-and also outlines the economic benefits of a global approach to collecting and sharing genomic data to diagnose and treat rare disease.
It noted that sharing data globally could provide benefits to diagnosis, disease management and treatment, clinical trials and personal well-being.
There are currently 475 million people globally affected by rare disease, and only five per cent of this population has a treatment while 80 per cent of rare diseases result from genetic or genomic variants, meaning an individual is born with a rare disease.
This results in 30 per cent of children born with a rare disease dying before they reach their fifth birthday, often without a diagnosis.
Over 450 million people-almost the populations of the USA, Australia, Canada and the UK combined-are living without a treatment or an opportunity to get better.
By aggregating genomic and clinical data at a global scale, countries with national genomic institutes and similarly hospitals with in-house genomics institutes could come up with more answers both to diagnose currently undiagnosed or misdiagnosed people with rare disease as well as develop treatments.
This could be done via a technical solution called a federated data system, which enables instantaneous, trustworthy access to data sets across countries or institutional locations via a decentralised architecture powered by Application Programming Interfaces (APIs).