Incorporating mitochondrial DNA structural variant analysis in routine genome sequencing increases monogenic diabetes diagnosis at no additional cost

Le résumé fourni par la source

Mitochondrial DNA structural variants (mtSVs) cause multisystem disease, including diabetes, yet genetic testing for diabetes does not routinely screen for them. The need for dedicated assays and the limited data on the prevalence of mtSVs in monogenic diabetes cohorts are major limitations of their incorporation into standard diagnostic testing. Whole genome sequencing (WGS) is increasingly becoming a first-line test for monogenic diabetes. In addition to providing information on the nuclear genome, WGS also generates robust mitochondrial DNA sequence data that enable the detection of mtSVs (1). Despite this, diagnostic bioinformatics pipelines do not routinely analyse this ‘free’ data, thereby missing an opportunity to deliver additional diagnoses at no extra cost.

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