Science and technology, UK (Commonwealth Union) – Genomic technologies have been in much focus in recent years. Much of genomic sequencing has been focused on its applications in medicine and agriculture.
New research conducted by the University of Aberdeen has found that the identification and the managing of inherited rare and serious conditions in routine care has the capability of being enhanced by genome sequencing.
Until recently standard genetic testing had its attention drawn on a lesser number of genes, however, when 1000s of genes are implicated in disease a new approach is formed.
Genome sequencing reads out the sequence of an individual’s entire genes and marks variants that vary from a general pattern. Specialists contrast these digitally against lists of genes identified to bring about disease followed by the evaluation of this short list of variants to mark the one that might be the key to an individual’s condition.
Rare conditions impact roughly 8 percent of Scotland’s population and roughly 80 percent of these conditions are of a genetic cause. There are over 150,000 gene abnormalities known to cause developmental and learning obstacles and many other conditions effecting long term health. However, a lot of patients are undiagnosed resulting in a huge effect for their life and their families.
The research appeared in the European Journal of Human Genetics where the results of the project, referred to as the Scottish Genomes Partnership, will be referred to inform healthcare policy together with funding decisions.
The collaboration between Scottish universities, NHS genetics labs and clinics and Genomics England, gave entire genome sequencing to families having rare, inherited conditions where prior genetic testing was unable to find a genetic cause.
This prominent research programme sequenced a thousand genomes from Scottish residents who had rare conditions and their family members and transferred this data for processing and storage into the 100,000 Genomes Project, which is a flagship project established in England to further clinical care via genome research. NHS (National Health Service) Scotland genetic scientists and doctors then interpreted the analyzed data giving useful results to the participants. A genetic diagnosis has been identified in 23 percent till now and more answers are arriving from studies on the data being conducted in Genomics England’s protected online research environment and from an SGP extension project, funded to seek more complex genome rearrangements.
With funding from NHS Scotland, the Scottish Government and the UK Medical Research Council, the SGP involved the Universities of Aberdeen, Edinburgh, Glasgow, and Dundee, NHS Grampian, NHS Greater Glasgow & Clyde, NHS Lothian, and NHS Tayside.
The project chief investigator, Professor Zosia Miedzybrodzka of the University of Aberdeen, stated that they had set up a system for Scottish patients to have genomes sequenced as a component of their care. But they had also found that a more targeted genome wide approach- the exome- that recently received funds from the Scottish Government as part of routine care- could give them similar numbers of diagnoses at a lower cost.
“The Scottish Government is using the study results to inform policy on what will be available in NHS Scotland in coming years. If analysis of genome sequence improves as expected, and the costs fall, Scotland will be well placed to implement the technology.
“Having an undiagnosed genetic condition brings a huge amount of worry for those affected but it is our hope that diagnosis through genome sequencing can bring answers and improve the lives of patients and their families.”
Natalie Frankish, Policy and Engagement Manager for Scotland, Genetic Alliance UK, says “Many people with rare conditions face significant challenges in getting a diagnosis, with more than a third of people with a rare condition having to wait more than five years. This diagnostic odyssey can have a significant impact on the quality of life and wellbeing for a person with a rare condition and their family.”
