• 18th December 2019

The latest version of the ACGS guidelines (v4.0) 2020 have been uploaded onto the website here.

They include:

(1) a re-written section 6: Reporting the variant classification; and

(2) other updates highlighted in yellow.

The text for section 6 has already been through a feedback process with input from attendees at the July 2019 BSGM/ACGS workshop. Please can you contact Sian Ellard (sian.ellard@nhs.net) if you have any concerns regarding the updates to sections 1-5 or 7 by January 17th 2020.

There will be further updates to the guidelines during 2020, to include some points raised through this revision process that will be discussed at the monthly Rare Disease and/or Cancer WebEx meetings, and to incorporate the new ACMG CNV guidelines