The genomic strategy within the NHS aims to implement equitable and accessible genomics for all by focusing on four key themes: embedding genomics across the NHS; delivering equitable genomics testing for improved outcomes; enabling genomics to be at the forefront of the data and digital revolution; and evolving the service driven by cutting edge science, research, and innovation.
Tootie Bueser is part of the NHS’s Genomic Medicine Service Alliance: a wrap-around organisation which collaborates with clinics, labs, and researchers to bring about personalised medicine. They aim to Translate research into the clinical practice. Bueser outlined the National Genomic Test Directory contains all the tests available and funded on the NHS in England, their indications, and their clinical availability criteria.
This presentation centred on how genomics can benefit nurses and midwives in the NHS. This cohort of medical professionals have had skills and knowledge of genomics as a part of their proficiency standards since 2018. As the largest section of the healthcare workforce, nurses and midwives are in an opportune position to support the equity of genomics access. Bueser commented that a ‘genomics mindset for all’ was needed to accomplish this.
Bueser demonstrated the clinical implementation of this concept with an example involving inherited cardiac conditions (ICCs). These are a set of inherited (generally autosomal dominant) conditions which affect the heart rhythm including arrhythmias and cardiomyopathies. For these diseases, genetic testing can be diagnostic, prognostic, and therapeutic. Bueser outlined the establishment of ICC clinics which provide comprehensive care including genetic counselling and testing.
Funding, training, and awareness of genomic practices are among some of the various challenges facing the implementation of genomic testing for nurses. Bueser also discussed the need for sustainability plans, supporting business cases, succession planning, and laboratory hub capacity.
The presentation concluded by highlighting plans to develop a genomics framework and competencies for nurses and midwives, aiming for better integration of genomics in clinical practice. This included implementing core principles in undergraduate nursing and midwifery education.