Update for participants on receiving results

Information about the process of receiving your results after participating in the

100,000 Genomes Project

A huge thank you from the Yorkshire & Humber Genomic Medicine Centre (GMC) team to all participants for taking part in the groundbreaking 100 000 Genomes Project.

We know you will want to have any information about your results so the below flow chart summarises the whole process and explains the steps necessary for the return of results to participants.

Where is my sample in this process?

There is a form on the Genomics England website which participants, parents, relatives, carers or named representatives of participants can complete which will inform people at what stage the sequencing of their DNA is up to.

The form is available at https://www.genomicsengland.co.uk/trackmysample/

What happens once the sequencing data has been received by the Genomic Medicine Centre?

Once the sequencing results are returned to the Genomic Medicine Centre, scientists and clinicians will look at them. Due to the complexity, this may take some time; we don’t know how long this may take for each participant. Where there is a likely result that will be fed back to you, further ‘quality checking’ will be also undertaken which will increase the time before results are provided to you.

When will I finally get a result then?

As soon as we have any confirmed findings we will contact you. Your hospital doctor will give you an explanation of any ‘main findings’ that are relevant to your cancer or rare disease. Results are now beginning to be returned to people who took part in the early part of the project. For people joining now, it is likely to be a year or more before you hear anything. We hope to be able to return all results to the doctors by the end of 2019.

What if nothing is found to report?

In many cases, no clear answer will be found at first. We will tell you if this is the case. As our knowledge grows, researchers will continue to analyse your data. We will let your clinical team know if we find anything in the future that could be important for your or your family’s health. Even if your results do not contain any information that is considered to be medically relevant, your participation in the 100,000 Genomes Project will still be vital in helping the treatment of future patients with similar conditions.

The 100,000 Genomes Project is at the cutting edge of science. Nobody has ever attempted whole genome sequencing at this scale before as part of everyday medical care in hospitals. Thank you for your patience while we set up and test all the processes and systems needed.

How can I find out more?

We will continue to update this web page when we have further information to share with you. If you have any further questions, please get in touch with us via email on yhgmc@nhs.net.

For further information, please see https://www.genomicsengland.co.uk/taking-part/results/.