Description

Genomic technologies have shown promise for stratifying disease management, identifying patients with rare disorders and identifying the causes of infections, all of which could improve both health and non-health outcomes for patients. The 100,000 Genomes Project (100KGP) presents an ideal opportunity to systematically collect high-quality cost and health outcome data within the largest genome sequencing programme in the UK, in an NHS setting. This data, when used in the context of economic evaluations, will be able to provide information on where the use of whole genome sequencing (WGS) is most likely to represent value for money for the NHS. This analysis will include the examination of both appropriate diagnostic points in the care pathway and also the downstream consequences of testing (such as the use of targeted drug therapies). The 100KGP also provides a fantastic opportunity to address a range of methodological challenges facing health economists in this area.

SUBDOMAINSUBDOMAIN LEAD/SRESEARCH DESCRIPTION
Outcomes Prof. Katherine PayneNew genomic technologies informed by the 100,000 Genomes Project are likely to take one of two forms: (i) genomic-based diagnostics for inherited rare conditions and (ii) genomic-based stratified treatment strategies. The Outcomes subdomain will use exemplars of new genomicbased diagnostics to (1) collate empirical data to support whether non-health benefits should be considered and paid for by the NHS; (2) understand whether non-health consequences should be valued using (i) a welfarist (WTP) or (ii) extra-welfarist (using an adapted QALY) approach; (3) determine how these non-health consequences should be traded-off against health, and (4) determine how to take account of non-health benefits in the opportunity costs. It is likely to be straightforward to value treatment strategies using a measure of health status as there are clear and measurable potential changes in health benefits that can be captured (such as improved morbidity or survival). However, new genomic-based diagnostics for rare disease, while improving the probability of patients and families gaining a diagnosis, may not offer subsequent treatment options.
Stakeholder PreferencesDr. James BuchananIn order to inform the full integration of genomic medicine into the NHS, the Preferences subdomain is focused on eliciting the preferences of these key stakeholders using well-established health economic approaches, primarily stated preference valuation surveys. Three stakeholder groups are particularly important: patients, clinicians and healthcare professionals. It is important to quantify the preferences of these groups for the provision and use of genetic diagnostic risk information from WGS (particularly if this does not have therapeutic consequences), and also their views on the value of stratifying treatments for diseases such as cancer. In addition, it is crucial that we fully understand how these stakeholders would like the future genomic testing service to be delivered.
Capacity and ImplementationDr. Gurdeep SagooFinally, the Capacity and Implementation subdomain will perform economic evaluations of different service delivery models. By mapping current and predicted capacity, demand, activities and patient flow, potential bottlenecks in service delivery will be identified and their estimated impact on patient outcomes quantified. This serves to elicit how genomic technologies and their outcomes will impact on demand and capacity both within clinical genetics services and in the wider NHS. This domain will also carry out two further key programmes:
The Incentives for Evidence Generation work stream will explore the costs associated with generating the evidence that is required to support WGS applications and consider which reimbursement policies could provide the necessary resources. This is necessary because cost-based reimbursement for tests and inflexible pricing for companion medicines do not provide sufficient incentive for test developers or stratified medicine manufacturers to invest the resources required to develop and validate genetic tests with an appropriate evidence base. Furthermore, a narrow concept of value is employed in current NICE policies and traditional economic evaluation methods which does not reflect other potential sources of value that could be derived from genomic technologies e.g. the “value of knowing”.

The Implementation Tools for Genomic Medicine work stream intends to provide practical tools and policy recommendations to enable policymakers to develop supportive policies and make robust decisions for the implementation of genomic medicine in the NHS.

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