Scotland at forefront of revolution in genetic medicine

"If you can identify what has caused a particular illness you don't have to do all sorts of other scans and tests that are done at the moment to find out what the problem is."

Dr Wendy Inglis Humphrey, Project Manager, Scottish Genomes Partnership

28th May 2017

Extract from a report in the Sunday Herald by Judith Duffy, Chief Reporter

 

The NHS in Scotland could soon be routinely using tests which unravel a patient’s entire genetic code to diagnose complex diseases.

A project is underway to assess whether whole genome sequencing – analysing an individual’s entire DNA sequence – should be in everyday use for the health service.

It is one of the research initiatives in Scotland which is aiming to put the country at the forefront of the genetic medicine revolution.

Dr Wendy Inglis Humphrey, project manager for Scottish Genomes Partnership – a Scotland-wide research collaboration between the NHS and universities – said one aspect of the project was examining if whole genome sequencing could be used in the NHS.

When this technology was first introduced a decade ago, it cost more than £1 billion to read a person’s entire genetic code. Now the cost has dropped to around £1,000 and it involves just a simple blood test for the patient.

Inglis Humphrey said: “For the patient it is a very straightforward process, but the cost is what happens behind the scenes in terms of the laboratory work and the analysis. Whole genome sequencing is currently quite an expensive test to run for the NHS. However, if you can identify what has caused a particular illness you don’t have to do all sorts of other scans and tests that are done at the moment to find out what the problem is."

Inglis Humphrey said that researchers were working on the assumption that whole genome sequencing will be offered by the NHS in the future, although she cautioned the study, which is analysing the DNA sequence of patients with rare diseases, is ongoing.

© 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.