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Whole Genome Sequencing sequences a person’s complete DNA. Whole-genome sequencing entails sequencing all coding (exons) and non-coding DNA as well as mitochondrial DNA. The exome makes up only 1.5% of the whole human genome, however, all protein-coding genes are found in the exome.
Whole-exome sequencing and targeted panels only see part of the story as they focus on reduced areas of the genome. As a result, for some genomic conditions whole-genome sequencing may be most appropriate.
The National Test Directories for rare diseases and cancer have set out the clinical conditions or indications where there is clear evidence for the value of genomic testing for patients. Each clinical indication listed has a set of criteria that sets out which patients are eligible.
The Test Directories can be accessed online via the NHS England website
The Test Directories will be updated annually.
Advances in genomic technology and testing within clinical practice have resulted in increased use of genomic testing across several specialisms, and a need for workforce development to ensure that healthcare professionals are supported to access genomic testing and feel confident and competent to do so.
Health Education England’s Genomics Education Programme has developed a competency framework, which concentrates on the knowledge, skills, and behaviours needed to support a patient who is considering and consenting to genomic testing.
NB: In the case of whole-genome sequencing, this follows a ‘patient choice’ model of consent, which covers both the clinical implications of a test as well as a research offer within a clinical pathway.
Tests listed in the National Test Directory are available through the genomic laboratory network. NHS England has commissioned the delivery of all core tests for rare and inherited diseases and cancer with the seven genomic laboratory hubs (GLH) across England (GLH) in accordance with the National Genomics Test Directories. Clinicians should order testing from their regional GLH which will carry out most tests.
Single-gene testing is not available for most genes that are tested by sequencing in the Genomic Medicine Service (GMS), but clinicians can request a panel that will provide the data required.
NB: The gene should be noted on the referral form to allow the laboratory to guide testing.
Genomic tests will be performed by the GMS at one of the seven GLHs (or their sub-contractors), to nationally agreed standards.
Within our region, these are based in Manchester (St. Mary’s Hospital, Christie Hospital) and Liverpool (Liverpool Women’s Hospital and Liverpool University Hospital).
You will receive a comprehensive test report from the laboratory which follows national guidelines.
You will be contacted to talk through the findings and subsequent report. This may involve a multidisciplinary team meeting if the laboratory needs more information from you or the findings are complex.
The report would include the types of tests used, the key findings, and a diagnosis if confirmed and it is recommended that you talk through the report with your patient, and that a copy of the report is kept in their medical records and shared with them as appropriate.
All data is kept securely and confidentially; patient data is used in line with UK law and NHS policy. A patient’s genomic test results will become part of their patient record; a copy will be held within a national system which is only available to healthcare professionals.
It is normal practice for an NHS laboratory to store extracted DNA from a sample after the current testing is complete, as it may be used for future analysis and act as a control to ensure consistency and quality of testing, for example when testing family members.
For Whole Genome Sequencing, the data from genomic tests are entered into a secure national database for the NHS Genomic Medicine Service. This system will store data about the test and results. NB: Approved access is required to access this data.
As part of the NHS GMS, all patients will be given the option to contribute their genomic data to a secure library so that approved researchers may access that data in a form that does not identify them. If patients choose to do this, then the data will be helping scientists, researchers, and other patients, by developing the treatments of tomorrow.
To find out more about how genomic data can support research please see the Genomics England website.