Endocrine Abstracts

The launch of the NHS Genomic Medicine Service in 2018 began the process of “mainstreaming” genomic testing in the NHS. Mainstreaming was introduced to firmly embed genomic medicine into all relevant clinical pathways and specialties, moving diagnostic genomic testing away from specialist Clinical Genetics services and into routine clinical care. The overarching aim is to improve equity of access to genomic tests and to ultimately streamline patient care. Ensuring that eligible patients are offered appropriate genomic testing should now form part of routine clinical care in endocrinology clinics within NHS. This “How do I” talk covers how to approach genomic testing in the general endocrinology clinic including: identifying eligible patients via the National Genomics Test Directory; aspects of consent around genomic testing; the logistics of requesting genetic panel tests; and a simple approach to interpreting panel test results.