Diagnostic Discovery for WGS

Genomics England constantly reanalyse WGS data and report findings back to the genomic medicine service (including East Genomics) on a monthly basis. Our clinical scientists review and validate these findings and prepare clinical reports which are returned to the clinicians who requested the original WGS test.

Where patients have moved on to the care of other clinicians we will take steps to pass on the report to the relevant teams. We ask you for your support in helping reports to make it to patients as quickly as possible.

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.

If the patient is no longer under your care, we have provided further guidance below.

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.

The number of reports will vary depending on your specialism and the number of patients you have referred for WGS testing. New variants are identified infrequently so we do not expect most clinicians to receive more than a few reports per year. The highest frequency of reports is likely to be received by clinical genetics teams.

Any gene or genetic abnormality currently included in panel app with a green (diagnostic-grade) rating may be included in these reports, irrespective of when the rating was attained.

Any patient that has had their whole genome sequenced as part of the 100,000 Genomes Project or via the NHS Genomic Medicine Service (GMS). Unless they have withdrawn consent.

Patients tested through the GMS do not need to have consented to be included in the national genomic research library (NGRL) for diagnostic discovery results to be returned to them. The NGRL is used in research to make discoveries based on genetic data, which may then lead to findings may then be reported through Diagnostic Discovery.

Results reported through the diagnostic discovery pathway come about from research using the National Genomic Research Library and through Genomics England Diagnostic Discovery work.

Research findings are reported to Genomics England and are then triaged with relevant findings being returned to the NHS via East Genomics and the other regional genomic medicine services.

As with all our clinical reports, any reported results have been validated and interpreted by HCPC-registered clinical scientists staff at East Genomics, and should be acted upon accordingly.

Reported findings are based on recent research and technological advances. Results are only reported if they meet a quality threshold for diagnostic relevance agreed upon by NHS England and relevant NHS teams and overseen by the national Diagnostic Discovery Oversight Group.

If you are unsure about any of the results included in a report, contact our Cambridge Lab for clarification. For advice on providing ongoing care to your patient or supporting potentially affected family members, contact your regional clinical genetics team.

Repeat testing is not required or recommended.

Patients that were tested as part of the 100,000 Genomes Project do not require WGS testing through the Genomic Medicine Service, provided the reason for testing is unchanged.

If there is a new clinical question, then a new test may be required as different genes will be included in the analysis.

This session recording (opens in a new tab) (NHS Futures login required) has additional information about diagnostic discovery.