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2nd December 2024
CGS has released its 2024 report: 'Maximising the Patient Benefit of Genomics – the evolving role of the Clinical Genetics Services'.
Key messages:
1. Clinical Genetics Services remain at the forefront of delivering genomic medicine. They are embracing the challenge of evolving their models of clinical care delivery to maximise the patient benefits of evolving genomic technology, which is now clinically available within the NHSE Genomic Medicine Service.
2. The NHS Clinical Genetics workforce is the most highly trained genomics human resource within the healthcare system and will maintain a key role in the diagnosis and management of complex rare disease and inherited tumour predisposition syndromes.
3. Clinical Genetics Services recognise their responsibility to develop and implement national clinical referral guidelines which ensure equitable access to specialised genomic healthcare for those who will benefit.
4. Given the dynamic and fast-paced nature of genomic research and innovation, CGSs recognise that their specialised skill set is also required to educate and train mainstream colleagues, as well as co-design new ways of delivering genomic healthcare within Clinical Genetics Services and in the mainstream setting.
5. The specialist workforce of Clinical Geneticists and Genetic Counsellors, recently joined by Genomic Practitioners and Genomic Associates, are working collaboratively to ensure that each works at the top of their scope of practise whilst respecting their separate professional roles and responsibilities.
6. The high diagnostic yield achieved using a combination of next generation sequencing and excellent bioinformatic pipelines, affords the opportunity of reducing the amount of clinical time spent on diagnostic pathways, to be replaced by increasing demand for expert input to mainstream genomic healthcare, co-ordinating surveillance programmes, provision of lifelong care to those affected by rare disease, and the potential of running therapeutic trials and delivering therapies as examples.
7. The referral eligibility criteria presented in the following document reflects the enormous range of skills within these specialised services and takes the first step towards enabling all services to align their resources for the provision of equitable care across England.
8. Further work will be required to implement these referral guidelines, recognising that regional services understand the diverse populations they serve, and that demand for Clinical Genetics Services also varies according to the genomic maturity of the regional healthcare system within which they are located.
9. Members of the Clinical Genetics Society, Lead Clinicians Group, United Kingdom Cancer Genetics Group and the Association of Genetic Nurses and Counsellors are keen to engage with, and work alongside, their national and regional commissioning colleagues at NHSE, to ensure that the pace of change in genomic technology is translated into population and individual patient-level benefit in an equitable way.
