We have developed a short guide for clinicians returning participant results from the 100,000 Genomes Project – and we’d like your feedback
With the 100,000 Genomes Project reaching its milestone this month of sequencing 100,000 genomes, one of the focuses for NHS Genomic Medicine Centres in 2019 is on returning results to participants who have not yet received any feedback.
For some clinicians, this may be the first time they have encountered a genomic test report. For others, a quick refresher of the key considerations may be useful.
So, in collaboration with the 100,000 Genomes Project participant panel, and a number of NHS health professionals, we have developed a two-page guide to support clinicians in returning results for patients with a suspected rare disease.
The guide takes you step-by-step through the aspects to consider, based on whether there is a confirmed genetic diagnosis, an uncertain result or a negative result. The guide also includes advice from patients on how to best deliver the feedback.
Only primary results are covered in the guide – those that relate to the clinical context of the participant. The guide does not cover additional looked-for findings, which will be returned by Genomics England at a later date.
The results guide will be published formally in the spring with supporting information and links to relevant educational resources.
Before then, we would like to invite clinicians to review the draft guide and send feedback via email. We’re interested in your views on the guide, and also what supporting information or related resources you or your colleagues would find useful. Please return all feedback by Monday 28 January 2019.
We would like to thank the 100,000 Genomes Project participant panel, 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, for their support in developing this guide.