Large-scale gene sequencing could feasibly be used in the NHS to identify rare diseases, experts say today.
Techniques called genome-wide microarray and whole exome sequencing can identify 80,000 genetic variants in individuals that may be associated with specific diseases.
Dr Helen Firth and colleagues from Addenbrooke’s Hospital, Cambridge, UK, are working on a project to diagnose the genetic cause of rare developmental diseases in children.
Their collaborative project, Deciphering Developmental Disorders, brings together 24 regional genetics services and over 180 clinical geneticists.
So far it has analysed information from the first 1,000 children of its 12,000-strong cohort, focusing on the 1,100 genes that have previously been recognised as a cause of developmental disorders.
This has led to a diagnosis for one third of these children, experts report in The Lancet.
Dr Firth explains that previous genetic tests were unable to find a cause.
She says: "Each of these patient families has been through a long diagnostic odyssey before taking part in the DDD project. For many, we are able to offer the diagnosis they have waited so long for. Sometimes this improves clinical management, but simply knowing the source of the problem can provide families with peace of mind."
To make the diagnosis, symptoms identified by clinicians, such as neurodevelopmental delay or abnormal growth are required.
Researcher Dr David FitzPatrick says: "This project requires the collaborative efforts of hundreds of NHS staff and researchers. Clinicians, database curators, bioinformaticians and genetics experts are all working together towards the common goal of finding answers for these patients."
Lead author Dr Caroline Wright added: "The project has shown that large-scale genetic testing, which brings such enormous benefits to patients and families, is both effective and affordable."
Wright, C. et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 17 December 2014 doi: 10.1016/S0140-6736(14)61705-0
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