2016
DOI: 10.1186/s13023-016-0515-y
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8th European Conference on Rare Diseases & Orphan Products (ECRD 2016)

Abstract: Table of contentsO1 The European Social Preferences Measurement (ESPM) study project: social cost value analysis, budget impact, commercial life cycle revenue management, and the economics of biopharmaceutical Research & Development (R&D)Michael Schlander, Søren Holm, Erik Nord, Jeff Richardson, Silvio Garattini, Peter Kolominsky-Rabas, Deborah Marshall, Ulf Persson, Maarten Postma, Steven Simoens, Oriol de Solà Morales, Keith Tolley, Mondher Toumi, Harry TelserO2 Newborn Screening: the potential and the chall… Show more

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Cited by 5 publications
(5 citation statements)
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“…In the United Kingdom (UK), coordinated care for patients with rare conditions is provided in different ways such as through specialist centres, care coordinators, multi-disciplinary teams, care plans and 'one-stop-shops'/ residential clinics where patients can access a range of services during one hospital visit [2]. However, services are not delivered in the same way across the country and experiences can depend on the condition, patients' age, and their location [2][3][4] and many rare disease patients are not aware of or do not access a specialist centre [4].…”
Section: Introductionmentioning
confidence: 99%
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“…In the United Kingdom (UK), coordinated care for patients with rare conditions is provided in different ways such as through specialist centres, care coordinators, multi-disciplinary teams, care plans and 'one-stop-shops'/ residential clinics where patients can access a range of services during one hospital visit [2]. However, services are not delivered in the same way across the country and experiences can depend on the condition, patients' age, and their location [2][3][4] and many rare disease patients are not aware of or do not access a specialist centre [4].…”
Section: Introductionmentioning
confidence: 99%
“…Limited research suggests that there may be both financial and non-financial 'hidden' impacts for patients and their families, associated with how care is coordinated [2,3]. A range of challenges related to how care is managed have been identified including: (a) psychological and emotional challenges resulting from high turnover of healthcare professionals and a lack of information and knowledge amongst professionals [10], (b) stress and financial concerns for parents due to the burden associated with planning and coordinating care to meet the unique needs of their children [11] and, (c) a substantial time burden for patients and carers, in part, because of coordinating their care [12].…”
Section: Introductionmentioning
confidence: 99%
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“…Despite the increasing use of NGS technologies, the diagnostic yield of Mendelian disorders remains low, partially due to the rarity of these conditions and the difficulty of identifying causal pathogenic variants from the large numbers of other private variants detectable in an individual’s genome and interpreting their functional impact. Traditionally, family-based segregation analysis has been useful in identifying pathogenic variants; nevertheless, it requires genomic annotation at population level which increasingly made available from global genomic consortia on rare diseases as well as unaffected subjects [ 5 , 6 , 11 14 ]. Despite the success of these global efforts, they remain limited in terms of ancestral representation from non-European populations such as Middle Eastern, South Asian, and African [ 15 , 16 ].…”
Section: Introductionmentioning
confidence: 99%
“…The specific field of medical innovation offers a rich display of such conflicts - with controversies over high-profile issues such as the direction of research and how to incentivise it, the morality of medicine pricing systems and practices, the ever-multiplying options for gathering and exploiting health-related data, or the adequacy of regulatory controls [17]. …”
Section: Innovation and Healthcarementioning
confidence: 99%