scholarly journals NI3 Economic Evaluation in Niche Markets: The Role of the UK's Advisory Group for National Specialised Services for Rare Diseases and Disorders

2011 ◽  
Vol 14 (7) ◽  
pp. A238
Author(s):  
N. Khan ◽  
N. Kiss ◽  
F. Pang
Keyword(s):  
Economic Evaluation ◽  
Rare Diseases ◽  
Advisory Group ◽  
Niche Markets

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.

The Role of Telemedicine in Paediatric Cardiology

2013 ◽  
pp. 44-88
Author(s):  
Brian A. McCrossan ◽  
Frank A. Casey
Keyword(s):  
Economic Evaluation ◽  
Medical Imaging ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pilot Project ◽  
Clinical Service ◽  
Current Evidence ◽  
Paediatric Cardiology

Paediatric cardiology is a subspecialty ideally suited to telemedicine. A small number of experts cover large geographical areas and the diagnosis of congenital heart defects is largely dependent on the interpretation of medical imaging. Telemedicine has been applied to a number of areas within paediatric cardiology. However, its widespread uptake has been slow and fragmentary. In this chapter the authors examine the current evidence pertaining to telemedicine applied to paediatric cardiology, including their own experience, the importance of research and, in particular, economic evaluation in furthering telemedicine endeavours. Perhaps most importantly, they discuss the issues relating transitioning a pilot project into a sustainable clinical service.

Uncertainty about facts and heterogeneity in values

2020 ◽  
pp. 303-320
Author(s):  
Susan Griffin
Keyword(s):  
Sensitivity Analysis ◽  
Economic Evaluation ◽  
Cost Effectiveness ◽  
Uncertainty Analysis ◽  
Probabilistic Sensitivity Analysis ◽  
Cost Effectiveness Analysis ◽  
Sensitivity Analyses ◽  
Information Analysis ◽  
Value Judgments

This chapter covers methods for describing how lack of knowledge impacts on the conduct and findings of distributional cost-effectiveness analysis (DCEA). It also sets out methods for describing how different value judgments can alter the findings. It explains why and how to distinguish uncertainty about facts from heterogeneity in values, and the role of each in informing decisions. It shows how the standard tools of uncertainty analysis in economic evaluation—including deterministic and probabilistic sensitivity analysis, and value of information analysis—can be applied to DCEA to provide information about uncertainty in the estimated health distributions and summary measures of equity impact. The chapter also shows how to use deterministic sensitivity analyses to investigate the implications of alternative value judgments and inequality metrics for DCEA findings and recommendations.

scholarly journals Orphanet – Information, Education and Expert Centres for Rare Diseases / Orphanet – informovanosť, vzdelávanie a špecializované centrá starostlivosti o pacientov so ZCH

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 10-15
Author(s):  
L. Kovács ◽  
E. Hegyi ◽  
G. Nagyová
Keyword(s):  
Rare Diseases ◽  
National Level ◽  
Quality Criteria ◽  
Basic Data ◽  
Current Status ◽  
Paper Briefly ◽  
European Reference Networks ◽  
Reference Networks ◽  
Centres Of Expertise

The paper briefly describes the role of Orphanet as an informational and educational source for rare diseases. Most attention is given to the Centres of Expertise and European Reference Networks. The authors suggest an easy procedure how to get the basic data about the readiness of the clinics to be recognised for Centres of Expertise at the national level. EUCERD recommendations on quality criteria for centres of expertise are introduced. The coordinators of the potential Centres of Expertise should be contacted and asked to fill in the questionnaire designed to check whether the centre matches the EUCERD recommendations or not. In order for the process to be transparent, the selection criteria of expert resources are listed on national website (www.orphanet.sk). The analysis of the questionnaires has to be carried out at the national level, to map the basic data about the current status. One questionnaire per department or clinic shall be filled in order to allow the evaluation. Clinics will be divided in two groups the ones which achieved the threshold and could be recognised as Centres of Expertise at the National level and the ones which need to be further monitored to reach the threshold.

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

Health Utility Measurement

2011 ◽  
pp. 787-813 ◽  
Author(s):  
Donna Rowen ◽  
John Brazier
Keyword(s):  
Economic Evaluation ◽  
Health Utility ◽  
Health State ◽  
Health States ◽  
Health State Description ◽  
Utility Measurement ◽  
Current State ◽  
Increasing Demand ◽  
Demand For Health

Measuring and valuing health is a major component of economic evaluation, meaning that health utility measurement has been growing in popularity in recent years due to the increasing demand for health state values in economic models and evaluations. The main issues in health utility measurement are how to describe health states, how to value the health state description and whose values should be used. This article briefly outlines these main issues and then focuses on recent methodological developments in health utility measurement. It assesses the current state of health utility measurement and discusses the question of assessment of a health state to be used in economic evaluation. The discussion whether experience utility should be used rather than conventional preference-based utility raises important issues about perspective and the role of various factors.

The Role of Solidarity(-ies) in Rare Diseases Research

2017 ◽  
pp. 589-604 ◽  
Author(s):  
Deborah Mascalzoni ◽  
Carlo Petrini ◽  
Domenica Taruscio ◽  
Sabina Gainotti
Keyword(s):  
Rare Diseases

The Role of Professional Advocate in Endoscopy: The A-Equip Model

2020 ◽  
Vol 18 (Sup8) ◽  
pp. S18-S24
Author(s):  
Loraine Chenai Mahachi
Keyword(s):  
Quality Improvement ◽  
Clinical Supervision ◽  
Workforce Education ◽  
Advisory Group ◽  
Self Awareness ◽  
The Face ◽  
Human And Social Capital ◽  
Tools And Techniques ◽  
Clinical Audits

In endoscopy, quality improvement (QI) is paramount and integral to Joint Advisory Group (JAG) accreditation. The challenge is to keep staff engaged and enthused in the face of factors that influence their emotions and behaviour. This was demonstrated in the author's endoscopy recovery units being used to cope with an inpatient surge for 14 months, which increased stress, sickness and turnover and lowered compliance with clinical audits. The professional advocate (PA) was tasked with addressing this and established that the QI systems in place were inadequate without investment in the team's human and social capital. The PA acted according to the Advocating and Educating for Quality Improvement (A-EQUIP) model to create a positive environment and support continuous improvement using various wellbeing tools and techniques. Restorative clinical supervision, human factors training and concepts from neurological and social sciences were employed to increase self-awareness, improve attitudes and build resilience in the workforce. These techniques have received positive feedback and become integral to the service. Endoscopy services should prioritise investment in workforce education and wellbeing and adopt the role of PA, which should be considered as part of JAG workforce standards.

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