These are findings which are looked for because they are relevant to the condition or disease for which the patient joined the project. These findings are changes, or variants, in a person’s genomic sequence. The changes could be relevant to the explanation, diagnosis or treatment of a person’s rare disease or cancer.
There are two types of report issued by the South West and West of England Genomic Medicine Centres for Main Findings:
- ‘No findings’ letter—this will explain that on this occasion, an analysis of the data has not found a genetic cause for the patient’s condition
- Genomics report -This will explain the findings from any analysis where it is believed that they could be relevant to the patient’s clinical presentation
All participants in the 100,000 Genomes Project were given the option to have their genome looked at for a small number of gene changes not related to the reason they took part in the project. These ‘looked for’ gene changes have been recognised to benefit patient care by enabling the participant to benefit from an early screening program or other health intervention. There are only a small number of currently ‘looked for’ genes but the list can change over time. The list of ‘additional findings’ will change over time, and the latest list can be found on the Genomics England website.
Carrier Testing or Reproductive Findings
Participants in the 100,000 Genomes Project were given the option to agree to have their genome looked at for gene changes, not related to the reason they had come into the project but which could affect future children. If someone has such a change, they are said to be a ‘carrier’ and it is unlikely to affect their own health. Not all participants will be able to receive carrier findings; for some conditions, results will only be looked for if both members of a couple are taking part in the project.
The list of carrier findings will change over time and the latest list can be found on the Genomics England website.
Help and Support
- Please note your clinical team will contact you about your result. Main Findings will be returned to the clinician who referred the patient or family to the project.
- If you have been consented on to the project and you would like to know the status of your sequencing, please visit Genomics Englands' trackmysample tool
- If you change your mind about whether or not you want to receive Additional findings and Carrier (reproductive) findings, you can contact your GMC team to discuss this further, or download an ’opt in’ or ’opt out’ form from the Genomics England website.
- If you have any questions about taking part or your result, please contact your clinical team or GMC team, of which contact information is on top right of this page