During 2019, the National Health Service will begin to offer whole genome sequencing (WGS) as part of clinical care for:
- Seriously ill children likely to have a rare genetic disorder;
- People with one of 21 rare conditions where current evidence supports early adoption of WGS as a diagnostic test; and
- People with specific types of cancer for which there is likely to be the greatest patient benefit from using WGS – children with cancer, sarcoma and acute myeloid leukaemia.
WGS will only replace existing diagnostic tests once the testing is demonstrated to be clinically safe to replace existing diagnostic testing. Initially, existing diagnostic testing will continue to be performed alongside WGS testing where clinically appropriate. This will continue until WGS is able to fully support clinical decision making within clinically appropriate timescales.
Current testing for blood cancers includes a number of diagnostic tests, the current expectation is that WGS will not be used to replace tests that require very fast turnaround times (under 24 hours) or high sensitivity.
WGS and non-WGS testing that will be available as part of clinical care is outlined in the National Genomic Test Directory at the following link:
The UK Genetic Testing Network (UKGTN) published the NHS Directory of Genetic Disorders/Genes for Diagnostic Testing, which evaluated and recommended genetic tests for rare and inherited disorders for the National Health Service across the UK. However, there was not an equivalent for cancer genomic testing. 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.
The National Genomic Test Directory will be updated on an annual basis and NHS England will implement a clear and transparent process, supported by a Clinical and Scientific Expert Panel, to determine which tests are available within the NHS. This will include reviewing any tests that may be retired or replaced by more modern technology, such as WGS. As the price of WGS falls and the clinical evidence improves, we envisage that it will be extended to more conditions and therefore more patients.