Genomics
Genomics is the study of genes in our DNA which has great value to many specialities including dermatology. Genomic technology and science support specialists to offer more effective diagnosis by uncovering the pathology of disease at a molecular level.
NHS Genomic Medicine Service
The role of NHS England is to enable the NHS to harness the power of genomic technology and science to improve the health of our population and deliver on the commitments in the NHS Long Term Plan. These commitments will be delivered on by the NHS Genomic Medicine Service for England. The NHS have recently published a priorities for Genomic Medicines document which sets out the areas for development in the service over the next 5 years.
Workforce development
To help achieve this NHSE are delivering three workforce development programmes covering nursing and midwifery, pharmacy and medical practitioners, with the support of Health Education England’s Genomics Education Programme.
Genomics Clinical Reference Group
The Genomics Clinical Reference Group (CRG) has been convened to support implementation of the NHS Genomic Medicine Service (GMS). This group is made up of professional, patient, and public representation. They will:
- Advise on clinical policy and strategy for genomics, including implementation of NHS Long Term Plan commitments and future development of the NHS GMS;
- Oversee a clear and transparent process for annual review of the National Genomic Test Directory (supported by three test evaluation working groups covering rare and inherited disease, cancer and pharmacogenomics, see below).
National Genomic Test Directory
The 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.
Please also see link to National Genomic Test Directory: Frequently Asked Questions.
The following specific tests are available to dermatology:
Genomic testing with multiple genes
For genomic testing where multiple genes are tested in parallel, NHS England have deployed the PanelApp tool to ensure that panels have an agreed set of curated genes and that this content is supported by scientific evidence. Using this tool, you can search using the national test directory code or the name of the panel (e.g. Primary immunodeficiency).
Testing Location
As the 7 Genomic Laboratory Hubs (GLH) will operate as a national network, the laboratory that will carry out a specific test may be different than the current arrangements. However, in most cases, the laboratory that you send your samples to will not change. If testing is carried out elsewhere then your local GLH will forward the sample on.
Test Sites
For a comprehensive list of Whole Genome Sequencing (WGS) indications (with prospective activation start dates under active review) please see:
Rare Disease WGS Clinical Indications
Please note that eligibility criteria apply to WGS testing, these are available here. For some clinical indications the WGS test is dependent on carrying out a prior non-WGS genomic investigation.
Patient Choice Consent Framework
Referring clinicians should be familiar with and have undertaken induction on the Patient Choice Consent Framework prior to ordering a WGS test.
WGS Rare Disease – Documents
New Test Order and Record of Discussion forms are available that can be completed electronically or printed and completed by hand. Download these forms onto your computer and open in Adobe software to enable electronic editing.
Test Order Form – Complete ONE form per family
Record of Discussion Form – Complete ONE form per individual
WGS Record of Discussion (RoD) Form
The patient choice conversation can be performed remotely, and the form submitted without a patient signature – please tick the “Remote consent” check box in the Healthcare Professional use only section on p3 of the form to indicate this.
Send completed Test Order Form and Record of Discussion Forms to mft.nwglhdnalab@nhs.net
Include “WGS Rare Disease” in the subject heading.
Samples for WGS and their Transport
Samples for DNA extraction for WGS should be sent to the Manchester site laboratory accompanied by the NW GLH WGS Test Request Form (Rare Disease Referral form).
Blood samples should be sent in EDTA.
If DNA is already stored at the Manchester or Liverpool site laboratory for an individual, please indicate this and the location on the test request form. If DNA is stored at another GLH please request for an aliquot of DNA to be transferred. Please indicate that the DNA is required for WGS (a minimum 2ug of DNA is required for WGS).
Patient Information
Questions?
We have prepared an information sheet covering Frequently Asked Questions (FAQs) this can be viewed here.
Education and Training Resources
NWGLH provides a comprehensive Genomics catalogue of useful resources which contributes to the education and training of staff members working towards professional registration and/or continuous professional development (CPD).
The Education and Training Resources can be found here.
