The use of biomedical big data for economic analyses of genome sequencing in rare genetic diseases : a case study from the 100,000 Genomes Project
2021
Hochschulschrift
Zugriff:
Countries around the world are increasingly translating next-generation sequencing diagnostics from research into clinical practice, especially for rare genetic diseases, but with limited health economic evidence. In the absence of data from clinical trials, the use of linked observational real-world patient-level genomic and clinical data, defined as biomedical big data (BBD), could improve the health economic evidence base. This thesis explores the use of BBD for economic analyses of genomic diagnostics in rare genetic diseases in the context of the Genomics England 100,000 Genomes Project (100KGP) and the National Health Service (NHS) in England. The practical and methodological challenges of using BBD for health economic analyses in the context of genomic sequencing are summarised and described by the results of a literature review. These challenges are initially explored via an analysis of the healthcare resource use of patients suspected of having a rare genetic condition, using data from the 100KGP. The health economic value of using diagnostic genome sequencing for the diagnosis is then considered by conducting economic evaluations for two disorders: hereditary ataxia and craniosynostosis. For hereditary ataxia, a cohort-based analysis is presented that uses diagnostic yield as the outcome measure. For craniosynostosis, a model-based analysis is presented that uses quality-adjusted life years (QALYs) as the outcome measure. In each case, the choice of methodological approach is supported by evidence from a literature review that summarises economic evaluations that have compared genomic and traditional diagnostic pathways. The results of the costing analysis indicate that patients with suspected rare genetic diseases consume considerably more healthcare resources than the general population in England. The results of the economic evaluations indicate that genome sequencing is a cost-effective use of scarce healthcare resources in the English NHS. However, these results are characterised by considerable uncertainty, so should only be considered as an early assessment of the likely cost-effectiveness of genome sequencing in this context. The thesis concludes that the use of BBD for economic analyses presents many challenges that may not be easily overcome, and which may require an evolution in health technology assessment and policy-making in this context.
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The use of biomedical big data for economic analyses of genome sequencing in rare genetic diseases : a case study from the 100,000 Genomes Project
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Autor/in / Beteiligte Person: | Fahr, Patrick |
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Veröffentlichung: | 2021 |
Medientyp: | Hochschulschrift |
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