Health Economics analysis gets underway for SGP

"The primary purpose of this evaluation will be to inform recommendations about the use of Whole Genome Sequencing within the Scottish NHS."

Professor Zosia Miedzybrodzka, Chief Investigator, SGP Genomics of Rare Disease

18th July 2017

Launch of Health Economics analysis for Whole Genome Sequencing as a way of improving diagnosis of Rare Diseases in Scotland

Today the Scottish Genomes Partnership (SGP) launched a research project which will evaluate the efficiency of Whole Genome Sequencing (WGS) as an intervention within NHS Scotland genetics services. This economic analysis will be run as part of the SGP research collaboration between NHS Scotland and the 100,000 Genomes Project, which is investigating the extent to which WGS can improve genetic diagnosis and follow-up for rare disease patients in Scotland.

The Aberdeen-based members of the team developing the

SGP Genomics of Rare Disease (SGP:GRD) Health Economics project

L to R: Lynne Hocking-Mennie (SGP:GRD Project Manager), Zosia Miedzybrodzka (Chief Investigator SGP:GRD), Mandy Ryan (Director of HERU), Lynda McKenzie and Sebastian Heidenreich (Research Fellows at HERU)

Working in collaboration with the Health Economics Research Unit (HERU) at the University of Aberdeen, the economic analysis will assess the costs and benefits of WGS for the diagnosis of rare disorders, and evaluate efficiency (comparing costs and benefits) with competing health care interventions.

The project will:

  • Identify existing evidence by conducting a systematic literature review of economic evaluations of genetic diagnostics.

  • Collect information about the costs of integrating WGS into routine NHS clinical practice.

  • Use economic techniques to understand the value of WGS for patients and their families.

  • Deliver a cost-benefit analysis using data from Scotland and other countries.

Professor Mandy Ryan, Director of HERU, who is leading the study said, "Costs are valued in the same way regardless of approach, and include resources used to provide the service, as well as healthcare costs that may be averted in the future. The recommended approach within healthcare management is to define benefits in terms of Quality Adjusted Life Years (QALY). However, it is recognised that this does not give a full picture and my research team will also be testing alternative approaches which may measure and capture the wider benefits of WGS for the diagnosis of rare diseases."

Professor Zosia Miedzybrodzka, Chief Investigator of the SGP Genomics of Rare Disease study and Consultant Clinical Geneticist & Service Clinical Director of Genetics for NHS Grampian, confirmed the importance of this study: "The primary purpose of this evaluation will be to inform recommendations about the use of Whole Genome Sequencing within the Scottish NHS. This is very important as it will help us to make decisions about the best use of resources."

Keep an eye on the website for future updates about this study.

© 2020 Scottish Genomes Partnership

Scottish Genomes Partnership gratefully acknowledges the funding received from the Chief Scientist Office of the Scottish Government Health Directorates and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative.