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Bridging the Gap: Overcoming the Bottleneck of Variant Interpretation

Bridging the Gap: Overcoming the Bottleneck of Variant Interpretation

5/16/2017    |    0 min read

Congenica are proud to announce the publication of the expert review: Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation, by Mike Furness.

The article, which was published in Expert Review of Precision Medicine and Drug Development on the 2nd May 2017, summarises some of the bottlenecks that clinical scientists face when analysing genomes and exomes, and the difficulties in discriminating pathogenic variants from the benign.

Over the last few years, decreases in the costs of sequencing and the increases in speed for generating data for whole human genomes has led to a revolution in the genetic analysis of disease. More recently, this has begun to filter through to clinical diagnostics, which provides additional challenges in how data are handled and shared.

The development of next-generation sequencing has supported the growing demand for whole genome and whole exome analysis but this new technology has displaced the bottleneck in genomics from sequencing to variant interpretation and the identification of pathogenic mutations at the root of diseases.

This article provides examples of how some of these challenges are being met currently, and new initiatives that are being put in place to improve the speed and accuracy of diagnosis.

In a recent webinar; Rare Inherited Disease: 30 Min from Data to report, Andrea Haworth and Laura Reed of Congenica, also discuss some of the challenges of variant interpretation and the need for standardisation.

Read the full Expert Review.