A project to sequence the genomes of patients with rare diseases has the potential to change the way care is delivered, explains Charlotte Hitchcock. Nurses need to be involved in order to ensure that patients are invited to participate and understand the implications
My interest in the 100,000 Genomes Project stemmed from a frustration with the phrase sometimes used by clinicians “it is probably genetic” when confronted with undiagnosed conditions, familial cancer that has not yet had a gene identified, or people responding differently to treatments. So, just over a year ago, I became a genomics ambassador for the West Midlands Genomic Medicine Centre, which is one of 13 genomic medicine centres accredited by NHS England to recruit patients to the 100,000 Genomes Project. I am not a research nurse – but this is not a research project. In fact my background is in theatre nursing and clinical informatics.
The aim of the project is to sequence the genomes of rare disease patients and family members, and patients with specific cancers. By reading the sequenced data – more than 3 billion letters – and comparing the affected DNA with the reference DNA (for rare disease patients this is the family’s DNA, for cancers this is the blood DNA), we will learn more about underlying conditions. Findings from the project will be returned to the NHS and fed back to patients.
The project is innovative and transformational: one that should see a change in how we view diseases and how we deliver care. Combining research with direct healthcare, this is a patient-centric approach that aims to improve patient care, establish a genomics service in the NHS and kickstart a genomics industry in the UK.
This project is a platform for positive change in the NHS and my involvement goes beyond the remit of sequencing 100,000 genomes. It involves rethinking how we treat patients and our interactions with differing specialties, trusts and support services with which we may not normally have contact. At my base trust, members of staff have embraced the ethos of the project and are working out best-practice methods for including the project discussion in routine clinics. There has been no duress to take on additional roles – rather this has been about providing information and inviting people to share their ideas.
To provide sustainable genomics services, sequencing should be considered as a standard test. This means that nurses need to be involved and have a say in how this service is integrated into routine care and how best to involve our patients. For example this involvement has been demonstrated at my base hospital in Wolverhampton with the positive attitude of the heart failure team manager who is identifying and informing patients who could join the project, then obtaining their consent to participate. For her, this means continuity for patients and an extension of the treatments and tests available to them.
Genetics and genomics is not simply work done in a laboratory, nor the sole remit of research staff – it is the future of healthcare. The exciting components of the 100,000 Genomes Project are the development of precision medicine targeting an individual’s condition (for example, using targeted chemotherapy for a genetically identified cancer), identification of undiagnosed conditions and the transformation the project brings to the way we work in the NHS. The project is allowing us to break down barriers, both within and between trusts, and concentrate our purpose on our patients.
Charlotte Hitchcock is genomics ambassador, 100,000 Genomes Project at New Cross Hospital, Wolverhampton.
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