Equity, Access and Economic Evaluation in Rare Diseases

2003 ◽  
Vol 1 (3) ◽  
pp. 151-157 ◽  
Author(s):  
Nick Bosanquet ◽  
Gianfranco Domenighetti ◽  
Ariel Beresniak ◽  
Jean-Paul Auray ◽  
Luca Crivelli ◽  
...  
Keyword(s):  
Economic Evaluation ◽  
Rare Diseases

scholarly journals Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

2021 ◽  
Author(s):  
Michael Abbott ◽  
Lynda McKenzie ◽  
Blanca Viridiana Guizar Moran ◽  
Sebastian Heidenreich ◽  
Rodolfo Hernández ◽  
...  
Keyword(s):  
Economic Evaluation ◽  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Rare Diseases ◽  
Genomic Medicine ◽  
Future Research ◽  
Clinical Genetics ◽  
Whole Genome ◽  
Peace Of Mind

AbstractNovel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.

scholarly journals Economic evaluation in the context of rare diseases: is it possible?

2015 ◽  
Vol 31 (3) ◽  
pp. 496-506 ◽  
Author(s):  
Everton Nunes da Silva ◽  
Tanara Rosângela Vieira Sousa
Keyword(s):  
Decision Making ◽  
Economic Evaluation ◽  
Rare Diseases ◽  
Evaluation Studies ◽  
Allocative Efficiency ◽  
Main Tool ◽  
Health Needs ◽  
Constitutional Principle ◽  
Effectiveness Studies ◽  
Rule Out

This study analyzes the available evidence on the adequacy of economic evaluation for decision-making on the incorporation or exclusion of technologies for rare diseases. The authors conducted a structured literature review in MEDLINE via PubMed, CRD, LILACS, SciELO, and Google Scholar (gray literature). Economic evaluation studies had their origins in Welfare Economics, in which individuals maximize their utilities based on allocative efficiency. There is no widely accepted criterion in the literature to weigh the expected utilities, in the sense of assigning more weight to individuals with greater health needs. Thus, economic evaluation studies do not usually weigh utilities asymmetrically (that is, everyone is treated equally, which in Brazil is also a Constitutional principle). Healthcare systems have ratified the use of economic evaluation as the main tool to assist decision-making. However, this approach does not rule out the use of other methodologies to complement cost-effectiveness studies, such as Person Trade-Off and Rule of Rescue.

Issues in the economic evaluation of community water fluoridation

1989 ◽  
Vol 53 (11) ◽  
pp. 646-657 ◽  
Author(s):  
BA White ◽  
AA Antczak-Bouckoms ◽  
MC Weinstein
Keyword(s):  
Economic Evaluation ◽  
Water Fluoridation ◽  
Community Water ◽  
Community Water Fluoridation

The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum
Keyword(s):  
Rare Diseases ◽  
Treatment Options ◽  
Castleman Disease ◽  
High Impact ◽  
Collaborative Network ◽  
Network Approach ◽  
Grant Applications ◽  
Research Questions ◽  
Novel Strategy ◽  
Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

135: Economic Evaluation of Finasteride in Benign Prostatic Hyperplasia Treatment

2004 ◽  
Vol 171 (4S) ◽  
pp. 35-36
Author(s):  
J. Curtis Nickel ◽  
Heather McDonald ◽  
Marg Hux ◽  
Marc Brisson ◽  
Lisa Bernard
Keyword(s):  
Economic Evaluation ◽  
Benign Prostatic Hyperplasia ◽  
Prostatic Hyperplasia
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