Commissioning for rare diseases: view from the frontline

Burls, Amanda; Austin, Daphne; Moore, David F.

doi:10.1136/bmj.331.7523.1019

Cited by 40 publications

(34 citation statements)

References 2 publications

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“…The treatment of some lysosomal storage disorders, which can be added to the panel of screened conditions (Meikle et al 2006;Matern 2008), is extremely expensive, especially when efficient enzyme replacement therapy is available. The decision of a health care system as to whether or not to fund treatments is not easy: "even if the drugs were 100% effective, the question remained whether they produced enough benefit to justify their cost, given other claims on resources" (Burls et al 2005).…”

Section: Health Care Issuesmentioning

confidence: 99%

Expanded newborn screening: social and ethical issues

Dhondt

2010

J of Inher Metab Disea

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Newborn screening and genetic testing have expanded rapidly in the last decade with the advent of multiplex (e.g., tandem mass spectrometry) and/or DNA technologies. However, screening panels include a large number of disorders, which may not meet all of the traditional screening criteria, established in late 1960s, and used for years to justify screening programs. After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. The test-panel review methodology, the way health benefits are weighed against harms, and the socioeconomic-political environment all play a role. Expansion of screening also requires reconsideration of the infrastructure (ideally, in the context of national plans for rare diseases) to support testing, counselling, education, treatment, and follow-up. Consequently, economic aspects cannot be ignored and can be a limitation for expansion. New ethical questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program.

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Section: Health Care Issuesmentioning

confidence: 99%

Expanded newborn screening: social and ethical issues

Dhondt

2010

J of Inher Metab Disea

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“…It has been argued that a more utilitarian approach should be used when it comes to orphan drugs and that rarity of a disease is a limited justification. For example, in the United Kingdom, the primary care trusts of West Midlands commissioned a report on the ethical issues, clinical efficacy, cost-effectiveness, and public perspective on whether to reimburse patients with Fabry disease and other rare diseases for the costs of treatment [20]. It was agreed that rarity was not significant enough a factor to override all other considerations in developing a decision.…”

Section: Discussionmentioning

confidence: 97%

An Evaluation Framework for Funding Drugs for Rare Diseases

et al. 2012

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“…More recently, the Advisory Group for National Specialised Services appraised eculizumab for atypical haemolytic uraemic syndrome [19] and tafamadis for transthyretin familial amyloid neuropathy [20]. A regional group in England had commissioned appraisals of other enzyme replacement therapies [21]. Other jurisdictions followed [22].…”

Section: Appraising Ultra Orphansmentioning

confidence: 99%