Jonathan Belsey will be participating in an international collaborative round table project in San Francisco in September examining the enhanced use of genomics in the field of rare diseases. The World Economic Forum is publishing a white paper exploring the health economic implications of enabling cross-border access to genomic data for the purposes of better-diagnosing and better-treating rare diseases.
A recently published analysis
based on data from the UK, found that the NHS in England spent an estimated £3.4 billion on diagnostics for patients with rare diseases over the past decade. Despite this expenditure, however, the time to diagnosis for an individual patient is still measured in years. Given that all developed countries are likely face similar cost burdens, a collaborative global approach, using genomic tools, has the potential to simultaneously improve standards of care, while lowering costs for individual countries.
The goal of the Economics Roundtable is to aggregate pre-existing knowledge and economic models examining the question: what is the return on investment (from a quantitative and qualitative perspective) of enabling cross-border access to genomic data for the purposes of conducting research to better-diagnose and treat rare diseases? We know that there are monetary costs to the diagnostic odyssey faced by the majority of rare disease patients, but can we quantify this cost to national healthcare systems or beyond? The white paper will also examine the lesser-discussed qualitative costs related to ongoing care for rare disease (e.g. socio-economic impact on families caring for a rare disease patient) and the mental health impact (e.g. rare disease patients lacking diagnosis and treatment not being able to work or requiring ongoing familial support).
This white paper is an integral part of the Forum’s pilot project Breaking Barriers to Health Data
, which aims to support producing a proof of concept for allowing cross-border access to genomic data between Genomics England, the Australian Genomics Health Alliance, Intermountain Healthcare and the Canadian Institutes of Health Research.
Jonathan has been invited to participate because of work he is carrying out in the design and execution of UK-based studies alongside Mendelian Ltd
– a client with a strong presence in the field of rare disease genomics. This place both Mendelian and JB Medical at the forefront of organisations driving this important but neglected field of research forward. By working with the prestigious World Economic Forum, we will ensure that this work is disseminated to as broad an audience as possible.