Rare disease results
Our GMC has now reported over half of all the rare disease results for patients that were recruited. Almost all the data has now been returned by Genomics England and the genetics laboratories in Cambridge and Nottingham are working flat out to report all remaining cases by April 2020. Any queries regarding the status of results for specific participants should be emailed to firstname.lastname@example.org
Rare disease reanalysis
There have been some requests for reanalysis of the 100K Genome Project data for some patients. As you are aware there has been considerable delay in receiving data from the 100K Genome project and we are still performing the first round of analysis on all the families in the project. In Cambridge, this has been prioritised which means that requests for reanalysis in the light of new phenotypes or new data can only be considered on a case-by-case basis and only if urgent.
Due to staffing issues there have been delays in analysing and reporting the data that has been returned by Genomics England, but we are committed to delivering all reports for participants in the cancer arm of the project by April 2020. Any queries regarding the status of results for specific participants should be emailed to email@example.com.
Guidance is available on the East Genomics website on how to talk to patients about their 100K Genomes Project results. If additional support is required please contact regional education and training lead, Gemma Chandratillake at firstname.lastname@example.org