Banging the genomics drum
Charlotte Hitchcock talks about her work as Genomics Ambassador in the West Midlands.
The 100,000 Genomes Project is an innovative and transformational initiative, which comes in the wake of our ability to sequence the human genome.
“It’s an innovative combination of both research and healthcare, and the information which is obtained if fed back into the patient’s record.
“The basic aim of the project is to sequence 100,000 genomes of NHS patients, who are suffering from certain rare diseases and specific cancers.
“Our hope is that their genetic components can be identified, and that by doing so, we can then look to provide answers to those individuals who have unexplained and unnamed conditions, and to build that information into future screening for cancers.
“The sequenced data could also then be looked at by researchers to develop precision and personalised medication.
“In November 2015, I became one of three Genomics Ambassadors for the West Midlands Genomic Medicine Centre (WMGMC), funded by the West Midlands Academic Health and Science Network (WMAHSN).
“Each of us covers four trusts within the Midlands Region; my host trust is Royal Wolverhampton Hospital Trust, and I also cover Dudley Group Foundation Trust, Walsall Healthcare Trust and Worcestershire Acute Hospital Trust.
“My background is in nursing - though not in research or genetics, but in theatre - and more recently in clinical informatics.
“I always make this point to people who ask me to explain my role, as I feel it is crucial for everyone to understand that this project is not the sole remit of scientists, but is a true collaboration between research and healthcare.
“My enthusiasm for the 100,000 Genomes Project is born of frustration with the many unanswered questions relating to genetic impact on health, and also a strong belief in the need for all healthcare professionals to embrace research as part of their routine practice.
“My role is extremely varied, but the main element is to act as a representative of both the WMGMC and the WMAHSN to facilitate the implementation of the project at each site.
“This involves engagement with clinicians, support services, patients and patient groups, education, project planning and management, public speaking and the identification of potential participants.
“However the remit goes beyond this; we are also there to represent the clinicians and patients through our General Medical Council to Genomics England.
“Whilst the project has a set timeline for the sequencing of 100,000 genomes, the work does not end there. Our long-term goal is to embed the genomics service into routine healthcare, and to transform how healthcare is delivered in the future.
“Not only are we hoping for sequencing to become the norm, but also that the treatment of patients will start to move toward the delivery of more personalised and precision medicine.
“For me, an important aspect of my practice is talking with nursing groups and individuals to discuss how we can ensure the genomics factor is incorporated in our practice, our education and therefore our future.
“Much is changing already about how the project is perceived, with clinical nurse specialists introducing the project and its ethos to patients in their care, and in some cases nurse specialists are identifying, informing and recruiting eligible participants.
“The 100,000 Genomes Project is a change platform for transformation of the provision of healthcare in the UK. We are at its heart - it is at the heart of my beliefs and actions, and I feel privileged to be taking part in this initiative.”
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