Variant classification and interpretation - workshop report


The ability of all NHS genetics laboratories to reach a consistent and accurate interpretation of a particular variant is paramount given the potential implications for patient management and safety. Advances in genomic technology have led to an increase in the number of novel variants and genes being analysed creating an urgent need to update variant interpretation guidelines to achieve greater consistency.

Key to driving consistency is the use of a common set of principles and approach to assessing variants, along with closer working between clinical colleagues.

This report, produced by PHG Foundation for the Association for Clinical Genomic Science (ACGS), summarises a recent meeting convened with the aim of achieving national consensus on the principles that should underpin the development of variant classification and interpretation guidelines for use within the UK clinical genomics community. Specifically under consideration was whether and how the American College of Medical Genetics and Genomics (ACMG) sequence variant guidelines should be adopted and implemented.

The meeting was jointly hosted by ACGS, the British Society for Genetic Medicine (BSGM), and the Genomics England core Validation and Feedback GeCIP (Genomics England Clinical Interpretation Partnership) group.

By Dr Sobia Raza, Dr Leila Luheshi, Alison Hall, Dr Emma Baple, Prof Sian Ellard, Dominic McMullun

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