With your help, in December 2018, the 100,000 Genomes Project sequenced its 100,000th genome. Thank you to everyone who made this historic achievement possible. Together, we are a powerful force for medical research and better health.
If you are yet to receive your results
Test results from the 100,000 Genomes Project will continue to be delivered to participants throughout 2019. Neither Genomics England nor the hospital where you took part will be able tell you exactly when your results will be back. As soon as your data has been processed, Genomics England will send the results to your local Genomic Medicine Centre where the results will be confirmed, and a report will be returned to the healthcare professional who recruited you to the project.
This healthcare professional (such as your GP or specialist) will let you know when they have received the report. You will be contacted about your test results just as you would be for any other test results – usually by letter or phone.
What to expect in your results
According to Genomics England, an estimated quarter of participants with a rare disease could receive a diagnosis in their results, and approximately half of participants with cancer are projected to receive information that could open up possibilities for clinical trials or targeted therapies.
This also means that in many cases, no clear answers will be found at first. Your results will tell you if nothing has been found, but be assured that researchers will keep looking. Any new results will be given to your clinical team as soon as they are available.
Genomics England is your best resource for FAQs about test results, and information on what kind of results you may get back.
About ‘additional findings’
Participants can decide if Genomics England should look for ‘additional’ health information in their genome sequence: this is data that is additional to findings about the rare diseases or cancers targeted for your ‘main finding’. Read more about what information you will get if you opt in to receive additional findings at Genomics England.
If you have opted-in for additional findings, these will be returned to you later, separate to any findings related to your main condition.
You can update your preferences about additional findings at any time using these forms:
More participant information about the 100,000 Genomes Project
- East Genomics: FAQs about the 100,000 Genomes Project
- East Genomics: How your data is managed in the 100,000 Genomes Project
- Patient Information Sheet for parents of a child with a rare disease (Cambridge)
- Patient Information Sheet for a child aged 6 to 10 years (Cambridge)
- Patient Information Sheet for a young person 11 to 15 years (Cambridge)
- Patient Information Sheet for an adult with a rare disease (Cambridge)