Our additional findings analysis will focus on looking for gene alterations or ‘spelling mistakes’ in a specific list of genes that may increase the risk of people developing certain health conditions. We chose this list because, if someone has an alteration in one of these genes, then they may have an increased risk of developing disease. If you have an alteration, it does not mean that you will definitely get that condition. This is a very important point to understand. Instead, health professionals believe there may be an increased chance and steps can be taken to reduce the likelihood of the associated health condition developing the associated health condition, or the condition can be treated or monitored.

These gene alterations are rare, and about 1 in 100 participants who consented to additional findings in the 100,000 Genomes Project will have one of these findings.

We would like to apologise for the long wait that all participants who have consented to receiving additional findings results have had to endure so far. This has been a massive undertaking between Genomics England and NHS England, and we really appreciate your patience and understanding.

Additional findings results started to be returning to NHS Genomic Laboratories in Spring 2021.

All of the results will have been returned to the NHS by the end of 2022, so participants should expect to hear back between Spring 2021 and the start of 2023.

We'll be analysing and reporting back the results in batches over this time period, so as to not overwhelm the laboratories. Every individual who has provided consent for their additional findings to be looked at will get a result (typically by letter), even if not gene alterations on the list below are found.

We're drawing this to your attention because we don't want you to worry that you have been forgotten, or if a friend of family member receives their results before you.

If you're expecting to hear these results but have not heard back by early 2023, or if you have other queries about this process, you can contact the Service Desk which is managed by Genomics England.

Only alterations in genes that cause childhood-onset disease will be looked for in child participants. This is in line with national policy on ‘The genetic testing of children (second edition) 2010’.

Some participants, who joined the 100,000 Genomes Project as children, have now reached the age of 16. This means that they will need to be asked again – as adults – whether they consent to continue in the Project or not. The NHS and Genomics England have been, and still are, contacting these young adults and their parents/guardians.

For any participants who opted in for additional findings when they were a child but have not re-consented as an adult, we will only report back results from the list of children’s gene alterations.

Anyone in this situation who wants to consent as an adult participant should contact the team in the region where they were recruited to the 100,000 Genomes Project. If you're unable to contact your relevant regional team, please get in touch with our Service Desk.

As the gene alterations we are looking for are rare, most people will not have an additional finding identified.

Unlike the primary findings where results were only returned for the person with the condition, so there was one result per family, for additional findings each participant who consented for additional findings will receive their own letter with their result from one of the NHS Genomic Medicine Service Alliances, whether we have found a gene alteration (a ‘positive’ result) or not (a ‘negative’ result). The regional NHS Genomic Medicine Service Alliances have replaced the NHS Genomic Medicine Centres from the 100,000 Genomes Project.

If you have an alteration in one of the genes we have looked at, please don't assume that this means you have the health condition associated with that gene. What we will have found is a gene alteration which may indicate that you are more likely to develop one of these health conditions. You will be invited to schedule an appointment with an NHS clinician, where you will be able to discuss the additional findings result, what this means for you, and any next steps. Individual details cannot be discussed outside of your appointment.

Most people will receive a letter indicating that no gene alterations were found that would increase their risk of developing the health conditions associated with the genes we have looked at. This is sometimes referred to as a 'negative result.' If this is the case for you, it is important to remember that this result does not mean you could never develop these conditions.

Results are based on the scientific knowledge we have available at this time. If you have further concerns about your family history or any health conditions, or symptoms of concern that have not yet been addressed, you should discuss these with your GP.