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Disease diagnosis with personalized WGS

A new study led by researchers at University College London concludes that patient-tailored, bespoke whole genome sequencing analysis could double diagnostic rates for rare diseases. Today, lists of genes associated with a phenotype (virtual gene panels) are compiled and applied to whole genome sequencing (WGS) or exome data to filter out the large number of variants in an individual’s genome – and WGS is increasingly used in rare diseases. However, there’s a problem: Standard, semi-automated WGS analysis can miss diagnoses in complex diseases. The solution: specialized multidisciplinary analysis of WGS that improves diagnostic rates and allows treatment to be modified and optimized.

Once again, the importance of individualized diagnostic testing, targeted analysis and tailored treatments is becoming apparent: In a new study, whole-genome sequencing was performed in 102 adults with diagnostically challenging primary mitochondrial disease phenotypes. Cases with no primary findings were reviewed by a genomic medicine team of specialist doctors, bioinformaticians and scientists, which allowed for bespoke informatic approaches, co-ordinated phenotypic validation, and functional work. This enabled them to increase the diagnosis rate from 16.7% to 31.4%, impacting the management of all new diagnoses. Find out more about the new approach here: