PhD: An economic evaluation of genomic sequencing for the diagnosis of rare conditions in Scotland

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Rare conditions affect 6-8% of the Scottish population. Most are severe and life-threatening, with a profound impact on quality of life for affected individuals and families. The typical journey to diagnosis, referred to as the ‘diagnostic odyssey,’ can take many years, with numerous hospital visits, costly and invasive tests, missed diagnoses, and shattered hopes and expectations. Novel developments in genetic diagnostics, namely whole exome sequencing (WES) and whole genome sequencing (WGS) may increase diagnostic yield, while also reducing the length and scope of the diagnostic odyssey. However, the financial implications of these genomic innovations are unclear. Health economic evidence is urgently needed to inform NHS Scotland policy on the reimbursement of genome-wide sequencing.

This research aims to conduct a comprehensive economic evaluation of WGS and WES, compared to standard genetic testing for the diagnosis of rare conditions in Scotland. In addition to detailed costing work, the benefits of genome-wide sequencing will be assessed using two Discrete Choice Experiments (DCEs). These DCEs will elicit preferences in separate samples of patients and families with undiagnosed rare conditions, and the Scottish general public. The perspective adopted on the measurement and valuation of health outcomes is an important normative and methodological consideration, which may ultimately impact estimates of cost-effectiveness. This multi-perspective approach will therefore elicit public and patient preferences for genomic medicine, and assess the impact of each perspective on NHS Scotland funding decisions.

PhD Student: Michael Abbott

Supervisors: Mandy Ryan and Rodolfo Hernández