Professionals
- Overview
- How to order a test
- National test directory
- Getting the results
- 100k guidance for clinicians
- Educational resources
- Education & Training events calendar
Genomic medicine is now part of mainstream NHS care and all healthcare professionals (not just genetics specialists) need to have a good understanding of its relevance. The pathway below outlines the Whole Genome Sequencing (WGS) pathway.
STEP 1
STEP 2
STEP 3
STEP 4

Library of resources
Carefully created and curated for healthcare professionals across the region to make the best use of genomics in their practice.

Education & events calendar
Our programme of genomics education for healthcare professionals is delivered through a mixture of face-to-face and online events.
Further reading on
Genomics in Healthcare
HEE Genomics Education Programme

How to order a test
Genomic testing in the NHS is provided through a national testing network of seven Hubs. The South East Genomic Laboratory Hub coordinates genetic and genomic testing for the South London, Kent, Surrey and Sussex region. The tests will be aligned to the Cancer and Rare Disease National Genomic Test Directories. These directories specify which genomic tests are commissioned by the NHS in England, the technology by which they are available, the patients who are eligible to access the tests, and the healthcare professionals who can order them.
Follow the links below to find out more and start the referral process:
I want to order a
Cancer test
I want to order a
Non-Cancer test
National test directory
The National Genomic Test Directory
The 2020/2021 National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test.
Getting results
All genetic and genomic test results will be returned by the South East Genomic Laboratory Hub after appropriate interpretation and analysis has been completed. These reports will be returned directly to the ordering clinician, unless instructed otherwise.

Results will need to be discussed at a Genomic Tumour Advisory Board meeting prior to a report being issued. These meetings have been established to ensure there is appropriate expert knowledge and oversight of genomic test results and that they are managed and acted upon in a coordinated way. These GTAB meetings will take place on a regular basis across the South East region and responsible clinicians will be invited to their local meeting to review their patient’s results with the Board members. Below is a mapping of the overall MDT model through which genomic test results will be monitored and reviewed.

Results will need to be discussed by the Genomic Advisory team for Rare Disease at a MDT meeting prior to a report being issued. These meetings have been established to ensure there is appropriate expert knowledge and oversight of genomic test results and that they are managed and acted upon in a coordinated way. These GARD meetings will take place on a regular basis across the South East region and responsible clinicians will be invited to their local meeting to review their patient’s results. Below is a mapping of the overall MDT model through which genomic test results will be monitored and reviewed.
100k guidance for clinicians
A big thank you to all the healthcare professionals in the South London, Kent, Surrey and Sussex region who helped recruit over 2000 Cancer participants and nearly 4000 Rare Disease participants and their families to the Project. Recruitment to the Project has now come to an end and our current focus is on returning the results of the project to patients. Your continued cooperation and support are critical in ensuring this happens.
Referring clinicians may be invited to a Genomic MDT meeting to review the results and discuss next steps for the patient. Depending on this discussion, more work may be required before the final result can be returned to the referring clinician (i.e. further analysis and validation of the findings).
In some cases an MDT discussion may not be appropriate and the report may be issued directly after the analysis at the lab. The referring clinician is then responsible for discussing the result with the patient.
Information for healthcare professionals on the 100,000 Genomes Project can be found on the Genomics England website:
Further reading:
- Guide to support clinicians in returning results for patients with a suspected rare disease – NHS Genomics Education Programme
- Genomics England Rare Disease Results Guide
- The National Genomics Research and Healthcare Knowledgebase (previously the 100,000 Genomes Project Protocol)
- Example whole genome analysis (WGA) from the Cancer programme
Education & Training events calendar

Events for October 2023
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Calendar of Events
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