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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 patient participation 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.

Details

Publication type

Guides

First published

8th January 2019

Page updated

25th June 2019

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Feedback of Results RD