From January 2026 we will be sending out reports detailing findings from the NHS Diagnostic Discovery pathway relevant to participants in the 100,000 Genomes Project.
If you receive a Diagnostic Discovery report, please review the findings and ensure they are passed to the patient as quickly as possible.
Full guidance is available in our Diagnostic Discovery FAQ.
The Diagnostic Discovery pathway provides new diagnostic findings for patients who have had whole genome sequencing (WGS) either through the 100,000 Genomes Project or the NHS Genomic Medicine Service (GMS). These diagnoses are achieved through ongoing re-analysis of WGS data by Genomics England and are based upon discoveries made since the original testing was performed.
New findings that meet thresholds agreed with NHS England and NHS teams as being potentially diagnostic are returned to East Genomics by Genomics England. Clinical scientists in our Cambridge Laboratory assess the findings and provide clinical reports of any confirmed diagnoses to the clinician who originally requested the WGS test.
A recent presentation about Diagnostic Discovery (opens in a new tab) is available on NHS Futures (login required).
This update is further to one from October 2025, where we started reporting other Diagnostic Discovery findings.