Genome sequencing could improve routine care of rare diseases

Genome sequencing could improve routine care of rare diseases
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Introducing genome sequencing into the routine care of inherited rare and serious conditions could improve disease management.  

Standard genetic testing typically focuses on a small number of genes; however, this approach is not future-proof with rare diseases requiring a more in-depth process for managing their symptoms and care. Whole genome sequencing involves reading the entire sequence of a person’s genes, as opposed to a small number of genes, and identifying variants that differ from the normal pattern.  

The findings of the project called the Scottish Genomes Partnership (SGP) were collated by the University of Edinburgh to help inform healthcare policy and funding decisions.  

The findings have been published in the European Journal of Human Genetics.

How genome sequencing helps with understanding diseases 

Whole genome sequencing allows scientists to compare genes known to cause disease and examine this shortlist of variants to identify which one might be key to a person’s condition.  

Rare diseases affect around 8% of the population of Scotland with around 80% of these conditions having a genetic cause. There are over 150,000 gene abnormalities known to cause developmental and learning difficulties, leading to a range of conditions that impact long-term health, however, many people remain undiagnosed.  

“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,” added Natalie Frankish, Policy and Engagement Manager for Scotland, Genetic Alliance UK. 

Providing more data to armour healthcare professionals about rare diseases 

Scientists from the University of Edinburgh, also members of the SGP, used genome sequencing on 1,000 genomes from Scottish residents with rare conditions and their families where previous genetic testing had not identified a genetic cause. 

The data was sent for further processing and storage as part of the gen100,000 Genomes Project, an initiative set up by Genomics England that aims to sequence and study genes and their part in health and disease.  

NHS Scotland and doctors will interpret the analysed data and the results will be passed onto the participants to aid their rare disease journey. The researchers have found a genetic link in 23% of the participants. 

“The publication of the SGP results represents a landmark for the application of genome technology to the healthcare of Scottish patients with rare genetic disorders. Continuously reducing costs of genome sequencing stands to increase future availability of genome-based testing for patients with rare diseases in Scotland,” commented Professor Tim Aitman, University of Edinburgh. 




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