Genomic technology has reached an inflection point, propelled forward by rapid technological, scientific and clinical advancements. We stand at a crossroads for genomic medicine.
As a result, it has become possible to quickly diagnose many conditions and identify specific genetic variants, which in turn inform drug treatments and offer more patients access to precision medicines, faster diagnoses or other interventions and therapies.
1. Embedding genomics into existing clinical pathways
Genomic medicine aims to enhance patient outcomes through better diagnosis, risk stratification and tailored treatments. It can be applied in all areas of healthcare from primary care to specialist services – with rapid advances and decreased costs in genomic technologies creating hope that this form of healthcare could bring breakthroughs across the spectrum of health.
As an international healthcare system, we are uniquely poised to push the limits of genomic medicine forward. This goal is made possible by our national genetics and genomics infrastructure, integrated informatics platform and interoperable data architecture.
Integrating genomics into existing clinical pathways for patients presents many unique challenges. Genomics will not always be recommended as the sole test option; factors like family history and clinical presentations will often determine which tests should be recommended instead. Our approach of embedding genomics within the NHS necessitates consideration of genomic information at point-of-care for optimal care outcomes.
There are already an abundance of education and training resources for clinicians available, yet improvements must still be made in integrating genomics into clinical workflows of frontline staff. One way forward would be creating new ‘just in time’ educational resources like GeNotes which will initially launch for oncology professionals before being extended to all specialties starting 2023 and beyond.
These new genomics tools must be user-friendly and readily available to clinicians, providing concise, highly relevant, actionable data compatible with existing e-prescribing, pathology requesting and reporting systems. Furthermore, they should also be accessible at the point of care so as to facilitate identification of patients who might benefit from genomic testing or genomic interventions.
Genomic laboratory hubs, NHS GMS alliances and clinical genomic services must develop clinical pathways that are fully integrated into patient journeys from primary through secondary and tertiary care settings – this requires input from multiprofessional groups as well as patients’ advocates and representatives.
2. Embedding pharmacogenomics into existing clinical pathways
This is a pivotal moment in genomics, with rapid technological, clinical and scientific developments and increasing affordability and value for money. The NHS is well placed to lead the way in delivering its potential, but must ensure that it does so in ways that are equitable and maximises benefit for patients and populations.
Pharmacogenomics is a new approach to the selection, prioritisation and prescription of medicines that takes into account specific individual variations in genes that control how the body metabolises them. This approach can improve patient safety, optimise the use of medicines and support cost saving. It can be used in both routine clinical care, for example in the selection of a suitable medicine to treat a psychiatric disorder or for anti-inflammatory therapy in rheumatoid arthritis, or in personalised cancer treatment where it can enable a more effective and targeted dose of chemotherapy or radiotherapy, or identify a more appropriate drug.
Across the UK the NHS is working to transform the way that genomic information is used for medicines. NHS England is implementing standardised pharmacogenomic information in electronic patient health records and is developing systems that will enable it to be shared with other organisations. This is important to maximise the benefits of genomics and ensure that results follow a patient through care.
Each NHS genomic laboratory hub, NHS GMS alliance and clinical genomics service has a multi-disciplinary leadership infrastructure that is led by medical, clinical, scientific and operational directors. It is also supported by teams of specialists in cancer (solid and haematological malignancies), rare disease, family history, bioinformatics, pathology, education and training. They are working to transform clinical pathways and services by embedding genomics into end-to-end patient pathways, supporting genomic multi-disciplinary teams (MDTs) for cancer and rare diseases and enabling a wide range of healthcare professionals to access training and develop the skills required.
As they work to embed genomics into existing clinical pathways the hubs and alliances are building relationships with local integrated care systems (ICSs) to align their commissioning model, performance measures and reporting. They are also exploring opportunities to work with the other nations of the UK to explore harmonisation of services and the development of opportunities for a UK wide approach in areas such as shared tumour genomics advisory boards and broader genomics programmes.
3. Embedding whole genome sequencing into existing clinical pathways
NHS Genomics Laboratory Service Alliances, including our regional Genomic Medicine Services (GMSAs) and clinical genomics teams, are working to incorporate whole genome sequencing into existing end-to-end clinical pathways and specialties. This requires working with multidisciplinary teams to identify clinically meaningful use cases as well as redesigning pathways such as collecting biopsies for cancer genomics early in the pathway and returning timely results that inform diagnosis and treatment decisions.
These changes will require significant shifts in how patients are informed of the implications of sequencing and subsequent care, with our findings suggesting a “linked lives” lens as essential in showing how genomic results may have far reaching consequences for individuals and their families. It shows how certain people could face more than one medical outcome from genomic tests; for instance, heritable tendencies identified through one genomic test might present differently among family members, thus altering health monitoring, decision making and care provision over time.
As genomic technology improves, sequencing can increasingly be combined with other biomolecular data sources for diagnostic use. For instance, RNA sequencing – used to examine gene expression encoded into an individual’s DNA – can provide useful diagnostic information when searching for mutations not reflected by gene expression or visualizing organelles like tumor stroma cells in biopsy specimens. Long read sequencing and optical mapping technologies are being investigated as additional means to sequence parts of the genome that cannot easily be targeted with other techniques, like testing for methylation in brain cancer or testing circulating tumour DNA from blood samples for testing liquid biopsies using blood samples taken directly.
To ensure genomics is fully embedded into the NHS, national performance management data collection is key. Focusing on equality and health inequalities, NHS Genomics Laboratory Service Alliances are working alongside their regional genomic medicine services to build a comprehensive data infrastructure including a genomics management database which records all genomic information generated within NHS hospitals. This data will then be used for operational improvements as well as robust evaluation of genomic impact across NHS organizations as well as supporting development of evidence-based clinical practice.
4. Embedding whole genome sequencing into new clinical pathways
Whole genome sequencing and its resulting “genomic data capital” offer great opportunities for improving healthcare delivery, patient outcomes and NHS financial sustainability. These opportunities could include more predictive screening tests; increased capacity to detect variants with clinical significance; as well as supporting new diagnostic approaches and personalized treatments.
This requires a new model of genomics in the NHS that integrates comprehensive genetic testing and genomic counselling into end-to-end patient pathways in partnership with both specialist and non-specialist clinicians, while using digital technology and solutions to enable clinical teams to access an online National Genomic Test Directory, quickly order genomic tests digitally, perform cutting-edge bioinformatics on them, deliver them directly into clinicians’ hands and support decision making or accessing trials based on these results.
One key challenge lies in ensuring all patients are aware of their options, informed, supported, and encouraged to make decisions that reflect the current national patient choice framework. To accomplish this goal, proactive steps such as developing educational programs and more comprehensive support materials may be required.
One challenge of genomics testing lies in providing timely and appropriate information to those undergoing genomic testing; this is particularly crucial given that genetic results can often be shocking and complex, necessitating an extensive range of educational materials to assist individuals and their families with understanding these results.
As part of immediate efforts to address these challenges, several initiatives are underway in response to them in the short term. These include introducing new management data that capture activity levels, variation and turnaround times at national level for NHS GMS services as well as aligning them with integrated care systems (ICSs). Work is also underway to strengthen relationships between NHS GMS services and their host organisations.
