This is a past event
The seminar will be given by Dr Sarah Wordsworth, Associate Professor and University Research Lecturer, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford.
12.30pm - 1.30pm, with a sandwich lunch at 12pm.
The seminar will take place in Room 1:029 Polwarth Building, Foresterhill.
Title: Health economics and genomic sequencing: challenges and opportunities
Abstract: Genomic technologies are advancing rapidly and may facilitate a precision medicine approach to patient care. Whole genome sequencing (WGS) provides information about the whole genome of an individual, allowing fast and comprehensive diagnoses to be made for patients with rare and common diseases. However, WGS is yet to be translated into clinical practice, partly because it is considered expensive and because there is limited economic evidence. Health economists face a variety of methodological challenges when conducting economic evaluations in genomics, including the measurement of outcomes and how to handle so called ‘incidental’ findings. To date, economists have predominantly conducted extra-welfarist economic evaluations in genomics. However, some believe that the welfarist approach might be more appropriate as it is better placed to capture information on the process-related and non-health benefits of genomic technologies, especially in the context of rare diseases.
In the UK, 3 million people suffer from a rare disease and over 80% of rare diseases have a genetic origin. However, treatments are not available for many rare diseases, so the benefits of more accurately diagnosing these diseases using WGS cannot be easily measured using standard outcomes (life-years or quality-adjusted life-years). Alternative analytical approaches are required, such as studying the often lengthy (many years) and complex pathway that rare disease patients take through health systems (diagnostic odyssey) and possibly the use of cost-benefit analysis. However, few studies have undertaken such analyses partly due to a need for substantial amounts of linked patient-level data across multiple elements of an entire health system.
The UK 100,000 Genomes Project is the largest genomic sequencing initiative in the world to routinely collect linked data at scale that can be used for health economic evaluation. This project is linking WGS result data to patient-level longitudinal data extracted from a variety of databases including Hospital Episode Statistics (HES).
This presentation will: (1) set out the main methodological challenges in evaluating genomic technologies (2) summarise the economic evidence on WGS and (3) present examples from the Oxford Health Economics Research Centre, where we have attempted to add to the evidence base for using WGS. This will include the first analysis of Hospital Episode Statistics datafrom rare disease patients enrolled in the UK 100,000 Genome Project, discrete choice experiment work and the decision tool being used to translate the 100,000 Genomes Project into routine care for NHS England.
Conflict disclosure: The author has no conflicts of interest.
Funding sources: Sarah Wordsworth is supported by the Oxford National Institute for Health Research (NIHR) Biomedical Research Centre. This work was also supported by funding from the Wellcome Trust Core Award Grant Number 090532/Z/09/Z and by the Health Innovation Challenge Fund (HICF-1009-026, WT091989/Z/10/Z), a parallel funding partnership between the Department of Health and Wellcome Trust. The views expressed in this paper are those of the author and not necessarily those of the National Health Service or the NIHR or the Department of Health.
Other HERU seminars are featured on the HERU External Seminars page.
- Hosted by
- Professor Mandy Ryan
- Venue
- Rm, 1:029, Polwarth Building