Genomics is becoming an important part of the healthcare agenda. With the introduction of a national NHS genomic medicine service (GMS), NHS England is striving to ensure that there is equitable access to genetic and genomic testing across the country. The aim is to integrate genomic medicine into routine NHS care by 2025.
What happens now?
In March 2017, the NHS England board set out plans to develop a national GMS to build on existing NHS clinical genetic services and the NHS contribution to the 100,000 Genomes Project, which was successfully completed in December 2018.
The NHS GMS, which will be rolled out across England from April 2020, will consist of a national genomic laboratory network made up of seven genomic laboratory hubs; a national genomic test directory; the provision of national whole-genome sequencing (WGS); an integrated clinical service and evolution of the NHS genomic medicines centre infrastructure.
What are genomic medicine centres?
Funded by NHS England, the first 11 genomic medicines centres were announced in 2014 as part of the 100,000 Genome Project. The first official genomic medicines centre opened in Greater Manchester and recruited its first two patients in 2015. There are now 13 regional genomic medicines centres across England.
One role of the genomic medicines centres is to identify the patients who might benefit most from genomic testing — individuals with rare diseases or different forms of cancer — and then provide them with information about what testing involves.
Once an individual’s genome has been sequenced and analysed, the results are compiled into a clinically actionable report, which is fed back to the genomic medicines centres for them to discuss in multidisciplinary meetings before informing patients. At this point, patients can also discuss short-term and longer-term options for their care and potential implications for their family members.
The genomic medicines centres originally committed to collect at least 90,000 DNA samples (and associated data), together with validation of sequencing outcomes, and return the results to participants by the end of 2019/2020. However, more than 106,000 samples have now been submitted, including more than 70,000 for rare diseases and 35,000 for cancer.
What is the aim of the genomic medicine service?
According to NHS England, the aim of the GMS is to provide consistent and equitable access to genetic and genomic testing across England.
Currently, there is variation in access to genomics and pharmacogenomic testing, and generally there is a ‘one size fits all’ approach to treatment. The GMS will drive more personalised treatments and interventions leading to the routine use of WGS, along with newer genomic technologies.
The GMS seeks to deliver a single national testing directory, covering use of all technologies from single-gene to WGS. It will also build a national database to help aid research and clinical trials.
A new genomics unit, created within NHS England, will oversee national planning, contracting mechanisms and reimbursement to the GMS.
What is the national genomic test directory?
Operational from October 2018, the national genomic test directory specifies which genomic tests are commissioned by NHS England and sets out the appropriate test that should be delivered for each clinical indication.
NHS England has committed to sequencing 500,000 whole genomes by 2024
The 2019/2020 test directory covers cancer, rare and inherited diseases, but it will be updated annually as the evidence develops. The scope of the directory is likely to expand to cover other areas, such as pharmacogenomics, which looks at how an individual’s genes influence a particular biological process that mediates the effects of a medicine.
NHS England has committed to sequencing 500,000 whole genomes by 2024. The focus of WGS is currently on primary diagnosis, but will eventually expand to include additional findings and pharmacogenomic profiles.
Can whole-genome sequencing now be ordered as part of routine clinical care across England?
Not yet — the overall goal is that from 2020, and by 2025, genomic medicine will be an embedded part of routine care, where appropriate. This should enable better prediction and prevention of disease, more precise diagnoses, targeted and personalised interventions, fewer adverse drug reactions and a more participatory role for patients.
The GMS is linked to a broader ambition of completing 5 million genomic analyses and 5 million early disease cohorts over the next five years.
Ultimately the aim is that, by 2025, genomic technologies will be embedded through multiple clinical pathways and included as a fundamental part of clinical training. As a result, it is hoped that there will be a new taxonomy of medicine based on the underlying drivers of disease.
The NHS medicines budget is currently £17bn per year and rising. However, 50% of medicines are not taken as prescribed, resulting in effectiveness issues; 1 in 15 hospital admissions occur owing to adverse drug reactions (ADRs) to prescribed drugs; and the typical drug efficacy is generally 30–50%. Pharmacogenomics enables the move from a ‘one size fits all’ model to a more personalised care approach, avoiding ADRs and optimising medicines use. This might include emphasis on existing medicines (including biosimilars); repurposing existing medicines; discovering new drugs and ‘rediscovering’ previous candidates; and targeting medicines and other interventions, such as diet.
Increased knowledge of the genetic variants responsible for ADRs, evaluation of the 100,000 Genomes Project, and the new NHS infrastructure to support implementation of testing have all helped make the case for the introduction of pharmacogenomics in the NHS.
How will the genomic medicine service involve pharmacists?
Pharmacists’ medicines expertise will be required as part of the multidisciplinary team when pharmacogenomic profiles are returned to patients. They will be needed to help explain to patients how their pharmacogenomic results are likely to impact their medicines and discuss any non-genetic factors that may influence drug responses. They may also need to liaise with the patients’ doctor in case any of the medications need to change. In future, pharmacists could also help with alerting on significant gene–drug interactions for future medicines prescribed for the patient.
A network of chief pharmacists who will support genomics implementation will be launched in 2020, with infrastructure and training across England. A network of pharmacy professionals with specialist expertise in genomic medicine will also be created.
Sequencing the human genome — a timeline
1990–2003 — the Human Genome Project sequences the first human genome.
2003 — the National Human Genome Research Institute in the United States launches ENCODE (the Encyclopedia Of DNA Elements) project.
2008 — the 1,000 Genomes Project — the first project to sequence the genomes of a large number of people from different ethnic groups and construct a comprehensive resource on human genetic variation — is launched.
2010 — the ‘UK10K’ is launched by the Wellcome Trust with the aim of sequencing 10,000 human genomes from individuals living in the UK. This includes 4,000 healthy people and 6,000 people living with a disease of suspected genetic cause.
2012 — the 100,000 Genome Project is launched by then prime minister, David Cameron.
2013 — Genomics England is set up to help with the running of the 100,000 Genome Project.
2014 — NHS England announces the first 11 NHS genomic medicine centres.
2015 — the Genomics England Clinical Interpretation Partnership (GeCIP) is established, bringing together more than 2,500 clinicians, trainees and researchers organised into specialities, such as breast cancer or cardiovascular disease.
2017 — then chief medical officer, Dame Sally Davies, publishes “Generation Genome” in which she outlines her “genomics dream” for whole-genome sequencing (WGS) to be widely adopted across the NHS.
- July: NHS England begins rollout of the Genomic Medicine Service;
- October: the health secretary, Matt Hancock, announces plans to sequence 5 million genomes in the UK in five years and says that, from 2019, all seriously ill children and adults with certain rare diseases or hard-to-treat cancers will be offered WGS;
- December: the 100,000 Genome Project reaches its target to sequence 100,000 genomes from NHS patients by the end of 2018.
2020 — completed rollout of the NHS genomic medicine service across England is expected.