The UK is seeing genomic technologies implemented across clinical specialities such as cardiology to identify inherited cardiac conditions; paediatrics for birth defect detection and developmental disorder identification; and oncology to inform treatment decisions as well as identify hereditary cancer predisposition risks – with no clear understanding of ethical implications.
Genomic medicine highlights the limitations of individualized notions of patient autonomy as decision makers. A shift towards collective patienthood will become necessary as genomics becomes mainstreamed.
The GMCs
NHS Genomic Medicine Centers (GMCs) are essential parts of the infrastructure needed for genomic medicine and precision healthcare, providing equitable and high quality services in specific geographical locations. GMCs will collaborate with regional NHS systems to promote interoperability and enable genomic data sharing.
GMCs will be led by multi-professional, multi-disciplinary teams that provide clinical leadership. They will also be supported by expert advisors, service designers and a range of other professional staff in order to provide patients with optimal care outcomes. Furthermore, each GMC will feature an advanced IT and informatics infrastructure designed to facilitate data flow from genomics across NHS organisations.
GMCs must cultivate strong relationships with frontline clinicians and specialty disease organizations in order to provide genetic diagnosis, interpretation of test results, and link care pathways effectively – something especially essential when dealing with rare diseases or cancer.
Establishing relationships will be fundamental in ensuring the success of the new genomics service. This should involve local integrated care systems (ICSs) as this is where most genomics activity takes place. Patient level contract monitoring in NHS genomic laboratory hubs (GLHs) will facilitate this by collecting performance information for benchmarking purposes against other diagnostic services within and outside NHS networks.
An additional area that needs to be prioritized is creating a network of networks of excellence in specialized areas of genomics. These will be identified based on capability following an application process set to begin early 2023, and their goal should be creating a unified national network of expertise and capability in genomics and personalized medicine through innovative sampling, sequencing and analysis approaches as well as closer alignment among NIHR research networks, clinical research networks and biomedical/medical research institutes.
Building on the lessons from the 100,000 Genomes Project will be key in embedding genomics into care pathways for various diseases and conditions, including familial hypercholesterolaemia; offering whole genome sequencing services routinely for children with rare genetic disorders or who have certain forms of cancer; as well as using circulating tumour DNA (ctDNA) tests to detect cancer early and monitor response to treatment.
The GMC programme
As the GMC advances its clinical genomics program and infrastructure, they will explore ways to integrate genomic information into existing NHS pathways. To do this, they will work closely with partners across the medicines landscape including GPs and pharmacists as well as existing medicines governance structures like regional medicines optimisation committees.
Genomic success hinges upon strong clinical and organizational leadership backed up by an empowered multi-professional workforce, to facilitate its inclusion within NHS pathways of care and beyond, which will produce the maximum patient benefit. A distinct approach must also be taken when approaching and informing patients of genomic test results as well as any related implications to their health or treatment options.
An individual seeking information about whether they have a gene mutation that could increase their chances of cancer or reduce the efficacy of certain drugs will require this knowledge, along with appropriate support and guidance to make informed decisions and use results as part of treatment planning.
Another area of need lies in creating and providing an adequate multi-professional workforce that is capable of supporting patients based on genomic test results, in particular their impact on health and wellbeing. To address this need, clinicians, healthcare workers, social care providers must be trained in understanding genomics as part of existing medical and nursing education curriculums.
The GMC is committed to building and supporting an efficient multi-professional workforce within genomics within health and social care systems, through initiatives like supporting genomics training for clinical academics as well as investing in genomic laboratory capacity which facilitates rapid processing of genomic samples for diagnostic or research use.
GMC will also focus on creating a national genomic resource library at various regional sites across England that links up with NIHR clinical research networks, in order to provide seamless genomic services within NHS care, while strengthening relationships between NHS genomic services and wider research and innovation communities.
The GMC delivery partners
The NHS Genomic Medicine Service (GMS) is an innovative genomic health service with global reach that delivers cutting-edge benefits to both patients and the NHS system as a whole. Led by bold clinical and organisational leadership with multiprofessional workforce empowered to use genomics when appropriate in pathways of care pathways, GMS delivers cutting-edge genomic medicine services with cutting-edge benefits for everyone involved.
DNA and RNA sequence data produced by NHS genomic laboratory hubs is used for various interventions. For instance, cancer patients can use their circulating tumor DNA samples to help determine their optimal cancer treatments – whether drug therapy or surgery. Cancer Research UK Cambridge Innovation Centre is at the forefront of leveraging genomic data to revolutionise breast cancer clinical practice, using both DNA and RNA sequencing technologies to pinpoint which treatments (including prophylactic surgery ) best suit each individual patient.
Regional CGNs play an essential role in supporting specialist clinicians understand how and where to order tests, how best to utilize results, as well as oversee reporting and audit processes – this in line with national governance arrangements that have been set up to support implementation of national genomics strategy as well as NHS GMS delivery.
As detailed work will need to be conducted across disease areas on how clinicians are eligible to order certain tests in the initial version of a test directory, this must take account of seniority, subspecialty expertise and sub-specialty areas of expertise; furthermore this definition must remain up-to-date as new technologies emerge and genomic medicine advances.
Each NHS genomic laboratory hub, NHS GMS alliance and clinical genomics service will cover a broad geographic area. Their primary goal will be to transform clinical pathways and service models while incorporating genomics where there will be the greatest effect on patients’ health; this may involve creating clinically meaningful use cases for testing genomic material as well as embedding genomics into existing NHS pathways.
GMC governance
Governance for genomic medicine centers should be an integral component of their program and to support delivery, with reliable data that can be utilized for operational improvement and evaluation being secured and effectively managed. This means ensuring access to robust yet clinically meaningful information for evaluation purposes. Also included is supporting the establishment of clinically oriented networks that can aid clinicians with making decisions related to genomic testing and results. These networks will likely be organized around regional hubs and will focus on specific disease areas to take full advantage of genetics/genomics expertise and resources available within each geography. A clear definition will need to be set of which clinical specialties may order certain tests; over time and disease areas, this may change according to relevant knowledge and current research findings.
Networks will be supported by a genomics multi-disciplinary team (MDT), who will identify and interpret actionable test results for their patients. Each MDT member will have been trained in specific pathways related to each condition and will be available to support colleagues within their own clinical areas. They are responsible for making sure all appropriate patients are placed onto appropriate pathways and returned their results within agreed timelines.
It is imperative that the NHS demonstrate leadership and innovation to drive forward scientific advances in genomic discovery and translate them into precision treatments for patients. To do so effectively requires partnership between patients, communities, and industry as well as bold clinical and organisational leadership as well as an empowered multi-professional workforce using genomics wherever clinically applicable in practice. Furthermore, closer alignment must be created between NHS research networks/centres of excellence as well as third sector organisations (such as biobanks).
The NHS must build trust and foster an innovative culture when it comes to genomics. This will include decreasing regional variance in access and turnaround times so that patients receive results at clinically relevant times. A system must also exist that quickly detects technical, system or human errors – perhaps using incident reporting systems such as those established with the MHRA for transfusion as a model to learn lessons for patient safety and enhance services.
