Clinicians returning rare disease results to 100,000 Genomes Project participants can use this handy 2-page guide, with further resources to follow
In collaboration with a range of NHS clinicians and the 100,000 Genomes Project participant panel, the GEP has developed a short PDF guide to support clinicians in returning results to participants with a suspected rare disease. The PDF is free to download, print and share.
The guide takes you step-by-step through the issues to consider, based on whether there is a confirmed genetic diagnosis, an uncertain result or a negative result. The guide also features advice from 100,000 Genomes Project participants on how to best deliver the feedback.
Only primary results are covered in the guide, so those that relate to the clinical context of the participant. It does not cover additional looked-for findings, which will be returned by Genomics England at a later date.
We will be following up the rare disease guide later this summer with a dedicated web page, featuring more detailed information and insights to support clinicians.
Alongside, this, we are developing a companion guide and supplementary information for clinicians feeding back cancer results to participants.
Finally, later this year, we will be publishing guidance for clinicians feeding back results to patients as part of the NHS Genomic Medicine Service. Please sign up to our newsletter or follow on us on Twitter for the latest updates.
We would like to express our gratitude to the 100,000 Genomes Project participant panel members and many NHS clinicians for their support in developing this guide, including Jillian Hastings, Dr Christine Patch and Dr Ellen Thomas of Genomics England, Dr Gemma Chandratillake of the East of England NHS Genomic Medicine Centre, and Professor Sian Ellard of the South West NHS Genomic Medicine Centre.