Genomic medicine is a revolutionary approach to healthcare, with Genomics England predicting that “the UK will become the first ever country to introduce this technology in its mainstream health system”1. Now is the time for healthcare providers to embrace this opportunity to be part of the global drive towards more personalised care and population health management.
Genomic medicine is the way to achieve some of the key aims of the Five Year Forward View (NHS England, 2014), including improved prevention, earlier and more precise diagnosis and targeted management of diseases. This is a new and emerging field. It is of particular interest how genomic medicine will become scalable and affordable so that it can be part of standard clinical care in the NHS.
What is Genomic Medicine and how can it be used?
A genome is a complete set of genes, comprising of an organism’s DNA that provides all of the information required to function. Genomic medicine aims to use a person’s unique genomic information, by looking for small variations in the DNA, as part of their clinical care to provide a more precise diagnosis and personalised treatment. Whereas existing medical models of care focus on treating disease, the addition of genomic medicine into mainstream NHS delivers true personalised care – an imminent driver to ensuring the right patient receives the right treatment at the right time. This innovative approach to medical care needs to be set within a coordinated integrated system, work that Attain supports through STP planning and implementation, and development of new models of care and accountable care organisations.
It is no secret that commissioner and provider organisations are facing substantial financial pressures. Attain is assisting health organisations to deliver the Carter Review (2016)2 recommendations: to increase efficiency, reduce waste and deliver value for money. However, currently there is significant financial spend on less effectual generic diagnostics and interventions –around £10 billion annually on tests and £15 billion on drugs (approximately 90% of drugs work in only 30-50% people3). Genomic medicine has the potential to improve both patient and financial outcomes – the pending Department of Health’s economic assessment on its financial impact is duly awaited.
What genetic testing/genomic medicine is currently being used in the NHS?
Currently in the NHS, single gene testing occurs (for example cystic fibrosis, haemophilia and some forms of breast cancer). Since 2003, the UK genetic testing network (UKGTN)4 has been establishing the genetic and genomic expertise – recommending which tests can be performed by NHS genetic laboratories.
The first human genome sequence was completed in 2003 – it took over 10 years and cost around £2 billion. During that time, the ‘technological race’ was on to develop a higher throughput method. Next Generation Sequencing (NGS) has significantly reduced the time and price of genome sequencing, making the ability to use genomic medicine in mainstream NHS more feasible. We are already seeing a step change in the NHS from single gene testing to whole genome sequencing and anything in between – including gene panels (50-100 specific disease-causing genes tested at one time e.g. breast cancer panel) and exome sequencing (i.e. the coding parts of the genome e.g. rare cardiac diseases exome sequencing). The Department of Health aims to use genomic medicine as part of clinical care ranging from pioneering diagnosis to routine management. For example:
- Genome sequencing a group of children who are affected by a movement disorder with similar symptoms has newly identified the pathogenic variant in the gene KMT2B. This genetic disorder is possibly a common cause for childhood dystonia and now likely to be tested routinely in similarly affected children. These children and others who are found to have this pathogenic variant can be linked to more specific treatment of their condition.
- Genomic medicine is likely to be used by the bedside in patients starting on and using the anticoagulant warfarin. Dosing of warfarin can be a challenge, leading to significant clinical events if incorrect. Genomic sequencing of patients can identify those at risk of excessive warfarin accumulation or warfarin resistance, preventing bleeding events and clots respectively. Armed with this information, a better understanding of the individual’s drug response will lead to saving lives and reducing healthcare spending on complications and long hospital stays and limit the need for cumbersome warfarin monitoring clinics and the discomfort of frequent blood tests, improving patient experience.
What is the future for genomic medicine in the NHS?
Genomics England, a company wholly owned by Department of Health, is driving the 100,000 Genome Project forward. It is sequencing 100,000 genomes from patients already in the NHS who have inherited rare diseases and/or common cancers, and has four main aims5, shown in the figure below:
This project has required the development of 13 Genomic Medicine Centres (lead NHS organisations with 75 supporting organisations), which have been explicitly designed to drive integration between existing laboratory and genetics services, other diagnostic services, and broader clinical specialities. The centres are tasked with setting up, standardising and driving improvements in standards, quality and practice regarding diagnostic services in a lab and the analysis, interpretation and use of test results. There is further support from GeCIPs (Genomic Clinical Interpretation Partnerships) where funders, researchers and clinicians collaborate, providing disease specific communities. The aim is to analyse and constantly refine the clinical interpretation of the 100,000 genomes dataset. This establishes the infrastructure and pathways that clinical teams will use in 2018 when genomic medicine will be mainstreamed into specific clinical practice areas related to the 100,000 genome project. Attain’s transformation experience and understanding of the challenges in integrating genomic medicine into mainstream clinical care, lends itself to the forefront of the work that will be required to build systems and innovative clinical pathways between health organisations. The successful application of genomic medicine is wholly reliant on computational power and data analytics, and with the push on the NHS digital agenda, organisations must consider how to best use the current digital opportunities to set themselves up for a genomics-centric future.
Of course the costs of introducing any new technology to a health system are significant and in the current climate of financial efficiency and savings, it can be difficult to justify. However, there is potential to use existing infrastructure, workforce and clinical pathways. Attain has a strong track record working with organisations optimising their resources through streamlining and generating new ways of working maximising skills and infrastructure. It is important to note that the Department of Health recognises the need to pump prime this venture and is seeking international partnerships to support UK healthcare providers in developing their genomic medicine services6. Organisations should be alert to potential commercial partnerships which can be established with mutual benefit. This diagram below shows how Attain can help you implement genomic medicine in your organisation:
Genomic medicine is developing fast. It is important that NHS organisations determine how they could integrate genomic medicine into their care delivery, as per the recent Chief Medical Officer’s annual report, and what changes would be required to realise the clinical and financial benefits. It is imperative that organisations understand the commissioning framework and the requirements, review their existing infrastructure, resources, logistics and partners and develop a clear strategy to provide mainstreamed equitable services to patients.
- Genomics England https://www.genomicsengland.co.uk/
- Lord Carter Review, Department of Health (published 2015, updated 2016) https://www.gov.uk/government/publications/productivity-in-nhs-hospitals
- Westminster Health Forum 28th November 2016, The Future of Personalised and Genomic Medicine
- UKGTN NHS directory for genetic disorders/genes for diagnostic testing nhs-directory-of-genetic-disordersgenes-for-diagnostic-testing
- CMO annual report – Generation Genome – https://www.gov.uk/government/publications/chief-medical-officer-annual-report-2016-generation-genome