Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.
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DOI：
10.1007/s12687-021-00541-4
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发表时间：
2022-10
影响因子：
1.9
通讯作者：
Ryan, Mandy
中科院分区：
文献类型：
--
作者：
Abbott, Michael;McKenzie, Lynda;Moran, Blanca Viridiana Guizar;Heidenreich, Sebastian;Hernandez, Rodolfo;Hocking-Mennie, Lynne;Clark, Caroline;Gomes, Joana;Lampe, Anne;Baty, David;McGowan, Ruth;Miedzybrodzka, Zosia;Ryan, Mandy
基因组医学的新发展可能会缩短罕见疾病患者的诊断过程。因此，卫生服务提供者必须决定是否在常规临床环境中提供基因组测序以诊断罕见疾病。在苏格兰基因组伙伴关系（SGP）研究的背景下，我们估计了单例标准基因检测和基于三重的全基因组测序（WGS）的成本。我们还探讨了用户对基因组测序的价值。成本和价值评估的见解将为苏格兰基因组医学的后续经济评估提供信息。估计标准基因检测途径的平均成本为每例1，841英镑，表型之间存在显著差异。每个家庭三人组的WGS成本为6625英镑，但这一估计反映了在SGP项目期间使用WGS，如果测序规模扩大，可能会实现大量成本节约。患者和家属重视（i）接受诊断的机会（以及带来的安心和关闭）;（ii）WGS提供的信息（包括对计划生育和次要发现的影响）;以及（iii）对未来研究的贡献。我们的成本计算将更新，以解决目前研究的局限性，纳入预算影响建模和成本效益分析（每诊断产量的成本）。我们对WGS好处的见解将指导离散选择实验估值研究的发展。这将为全基因组测序的用户视角成本效益分析提供信息，并考虑到更广泛的非健康结果。综上所述，我们的研究将为NHS苏格兰临床遗传学检测服务的长期战略发展提供信息，并将有利于其他寻求在不同背景下进行类似评估的人。在线版本包含补充材料，可通过10.1007/s12687-021-00541-4获得。
Novel 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 online version contains supplementary material available at 10.1007/s12687-021-00541-4.
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影响因子：
6
作者：
Cleland, Jennifer;Porteous, Terry;Skatun, Diane
通讯作者：
Skatun, Diane
影响因子：
5.2
作者：
Chassagne, Aline;Pelissier, Aurore;Faivre, Laurence
通讯作者：
Faivre, Laurence
DOI：
10.1038/s41431-018-0106-6
发表时间：
2018-05
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Mackley MP;Blair E;Parker M;Taylor JC;Watkins H;Ormondroyd E
通讯作者：
Ormondroyd E
影响因子：
4
作者：
Doble, Brett;Schofield, Deborah;Roscioli, Tony
通讯作者：
Roscioli, Tony
影响因子：
8.8
作者：
Goranitis, Ilias;Best, Stephanie;Boughtwood, Tiffany
通讯作者：
Boughtwood, Tiffany