Team Grant: Indirect Socio-Economic Burden of Inherited Diseases – Registration
Well-being, Health and Biomedical Discovery
Deadlines
Academic Unit: Inquire with your unit
Memorial Deadline: No RGCS review required for the Registration
External Deadline: Tuesday 13th, April 2021
Description
SIRI will be offering support with application development for this opportunity. Prospective applicants are encouraged to contact Jennifer Stevens (v5js@mun.ca) early during the development process to discuss the services available to them.
This funding opportunity lies within the scope of the efforts deployed over the past few years by the CIHR Institute of Genetics to support rare/inherited diseases, researchers, patients and patients’ organizations. These efforts, initiated as an exemplar under CIHR’s Personalized Medicine Signature Initiative, now continues under the Personalized Health Initiative, with an enhanced focus on implementation. In that spirit, the current funding opportunity addresses challenges faced by patients and their families that are linked to health services, health policy, and GE3LS (Genomics and its Ethical, Environmental, Economic, Legal and Social Implications) research.
Inherited diseases, often called rare or orphan diseases, are perceived as diseases affecting only a few individuals. Studies about the burden of inherited disease are currently complex as care is often provided by specialists, and these diseases are classified within a specific therapeutic area(s) rather than being recognized as the core cause, which is an inherited disease.
In recent years a new picture about the frequency of rare diseases has been emerging, due in part to the increased awareness of rare diseases. In addition, the introduction of new sequencing technologies – that have increased the speed and decreased the cost of identifying mutations that are causal for rare diseases – also contributed to better appreciation of the impact of these diseases. Indeed, it is estimated that 75% of inherited diseases affect children where 1 in 15 children are born with an inherited condition, 1 in 4 beds in paediatric wards are thought to be occupied by a child with an inherited disease and 1 in 3 children with an inherited disease die before they reach their fifth birthday. This picture currently shows that, collectively, inherited diseases are far from being rare and indeed are a major (if not the main) contributor to childhood mortality and morbidity in Canada. However, these are currently estimates, and true numbers for Canada are lacking. To-date, one other aspect that has been under-evaluated is the economic burden (direct and indirect costs) of inherited diseases.
Considering this, as well as CIHR’s mandate, the purpose of this funding opportunity is to support teams of researchers, patient/patient association representative/family member/caregiver partners and knowledge users (including but not limited to decision makers, policy makers, clinician scientists, health professionals) to investigate prospectively the indirect socio and economic cost of inherited diseases in Canada. This funding opportunity is expected to generate clear demonstrations of the burden of inherited diseases in the Canadian context, with the costs focused on the indirect, psychological, and social burden to patients and caregivers. These costs include but are not limited to: loss of income/education, early retirement, isolation/missing community and cultural events, cost of medication and devices, out-of-pocket healthcare expenses, at home care etc. To better understand the Canadian landscape, research teams must include representation from at least three provinces or territories to allow for cross-jurisdictional comparisons. This type of cross-jurisdictional comparative analysis can help elucidate how variations in policy, the funding of health and social systems, and availability of services across jurisdictions can result in differences of the indirect socio and economic cost of inherited diseases on Canadians depending on where they live.
For this call, inherited disease is defined as a disease that can be passed from one generation to the next and would include de novo mutations found in germline cells but would exclude ‘rare’ non-inheritable conditions (e.g. retinopathy of prematurity and most (but not all) childhood cancers).
Additional information can be found at ResearchNet.