Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by researchers from University College London (UCL). A National Health Service (NHS) Genomic Medicine Service, which allows patients with rare disease
A new scientific study finds that personalized whole genome sequencing could double the diagnostic rates of rare diseases.
However, the interpretation of this data can be exceptionally challenging. In fact, many people with complex, rare genetic diseases still do not receive a molecular answer to the cause of their problems. Lead author, Dr. Robert Pitceathly , said: “The NHS has invested heavily in advanced genetic technologies. Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. That said, some people with rare genetic diseases remain without a molecular diagnosis after their genome is analyzed.
Dr. Pitceathly said: “In this study, every new genetic diagnosis had a direct impact on patient care. This included additional check-ups for heart problems, hearing loss, and diabetes, and access to clinical trials.” “This study highlights the importance of the collaboration between specialist clinicians and genetic scientists in interpreting the results of genome sequencing to maximize the opportunity of reaching a diagnosis which can then help guide medical management and treatment options.”Rachel North was one of the patients involved in the trial and described getting a diagnosis as “life-changing.
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