Clinicians that have previously referred patients for whole genome sequencing (WGS) may soon start to receive clinically validated reports containing updated genetic findings for patients that have already received the results of their initial WGS test. These reports will include genetic variants that have been identified through research or technological advances since the time of the original test and are returned as part of the NHS Diagnostic Discovery pathway.
What to do if you receive a report
If you receive a report, we advise you to review the new findings and to pass them on to the patient as quickly as possible. You should also arrange any appropriate management or referrals for your patient based on their new genetic diagnosis, once the patient is aware.
There may be some cases where the care for the patient/family has been transferred to a new team, and we aim to address this wherever possible by contacting a member of the new team. If you receive a report for a patient no longer under your care, please take the following actions as appropriate:
- If the patient's care has been transferred to another team, assist result delivery by passing the report on to the relevant care team if clinically appropriate to do so.
- If the patient is no longer under specialist care, contact their GP to request a re-referral.
- If additional support is needed to present the results to the patient, seek a referral to clinical genetics stating that the referral is a new Diagnostic Discovery result for disclosure to the patient.
Number of reports to expect
We anticipate that most of you will receive no more than a few reports per year. The number of reports will be somewhat proportional to the number of WGS tests you have ordered historically, and we anticipate the largest volume to be received by Clinical Genetics teams.
About Diagnostic Discovery
The aim of Diagnostic Discovery is to provide genetic diagnoses for patients who have had WGS through either 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 on a monthly basis. 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.
Patients referred through the GMS do not need to have consented to join the National Genomic Research Library in order to receive updated results through the Diagnostic Discovery pathway.
Non-urgent advice: Supporting resources
A recording of a session (NHS Futures login needed) with more information on Diagnostic Discovery is available and we will be hosting a future paediatric forum to share more details (register your interest in paediatrics here to receive updates).
We will begin issuing results for patients who were referred for WGS via the Genomic Medicine service shortly. Results for patients who were referred for WGS via the 100,000 Genomes Project, will start being reported at a later date. We will share a further update when this happens.
Please contact cuh.geneticslaboratories@nhs.net with any questions about this process.
Please contact your regional Clinical Genetics team for advice on the ongoing care of your patient.
Patient Guides for many rare genetic conditions are available via the charity Unique and patient support groups can be found via Genetic Alliance UK