Featuring: Professor Dame Sue Hill, Chief Scientific Officer, NHS England
The 100,000 Genomes Project is the first time whole genome sequencing has been utilised at scale in the NHS. To do this successfully, NHS laboratory healthcare scientists and doctors will need to be equipped with new knowledge and skills so that they can prepare the high-quality samples required for the project.
Prof Dame Sue Hill: The NHS contribution to the 100,000 Genomes Project will be one of the most significant developments in the NHS over the forthcoming decade. With the support and participation of patients and their families, 100,000 whole genomes will be sequenced from people with rare disease and cancer.
Prof Dame Sue Hill: The NHS contribution to this important and ground-breaking project is being delivered through NHS Genomic Medicine Centres – regional centres working with a network of local delivery partners serving a population of between 3 to 5 million. The NHS Genomic Medicine Centres take eligible patients in their care who have informed consent and standardised sample collection and processing. After whole genome sequencing, NHS Genomic Medicine Centres then validate the findings and produce a diagnostic report, which provides the basis of feedback to participants, eventually informing their care and treatment.
For the patient, the journey begins with consenting to participate in the 100,000 Genomes Project. Blood samples are then taken according to the NHS England specification available to all Genomic Medicine Centres. Typically, samples are collected for: peripheral blood for germline DNA extraction; plasma and serum for future metabolomic studies and other biomarkers; RNA for transcriptomic studies. For patients with cancer, an additional blood sample is collected in an EDTA tube for extraction of cell-free circulating tumour DNA, as well as the DNA from the tumour itself.
As the samples move through the different stages of processing and DNA extraction, it is vital that they are collected and handled in standardised ways to ensure consistency and quality. For the 100,000 Genomes Project, all laboratories must comply with the UK national external quality assurance scheme, peripheral blood and all tumour DNA extraction. So it is important that you are fully competent in the relevant processes.
Prof Dame Sue Hill: What this project requires from laboratories is a high level of standardisation and the careful following of protocols for both the handling and processing of blood and tumour samples. Integral to the outcomes of this project is the extraction of high-quality DNA.
Prof Dame Sue Hill: This is a really exciting development for laboratory staff to be right at the centre of. It is their work that will help to lay the foundation for the NHS of the future, where DNA testing in all its different guises becomes a core diagnostic tool in a clinician’s armoury.