Endocrine Abstracts

Background: Many endocrine disorders have an underlying genetic component, yet clinical management often occurs in isolation between endocrinology and genetics services. To bridge this gap, a Joint Endocrinology and Genetics Clinic was established at the University Hospitals of Leicester in 2024. The aim was to provide an integrated, patient-centred model of care that facilitates timely genetic diagnosis, personalised management, and family counselling, while also promoting genomic literacy among clinicians in training.

Methods: The clinic is jointly led by a Consultant Endocrinologist and a Consultant Clinical Geneticist, supported by with wider MDT including genetic counsellors, specialist nurses and residents. The GeNotes platform is used during consultations to guide genetic testing and consent. Patients are referred from general and specialist endocrine clinics where a hereditary or syndromic cause is suspected. Data were collected on clinic activity, referral indications, genetic investigations, and educational outcomes.

Results: Since its launch, five clinics have been conducted, and 27 patients have been reviewed. Suspected familial cases included those with potential multiple endocrine neoplasia, paraganglioma–pheochromocytoma syndromes, hyperparathyroidism, pituitary adenoma and AVP related polyuria. The presence of an on-site Clinical Geneticist facilitated the discussion regarding appropriate genetic testing and cascade testing for family members. Genetic counselling was provided when indicated, improving patient understanding and reducing the need for additional appointments. Feedback from residents and students highlighted the clinic’s educational value, particularly in enhancing awareness of genomic medicine and multidisciplinary working.

Conclusion: The joint Endocrinology and Genetics Clinic has demonstrated the clinical value of a multidisciplinary, genomics-integrated model within secondary care. It streamlines diagnostic pathways, supports holistic patient support and strengthens training in genomic medicine. Expansion of this model could inform the future design of precision-endocrinology services across the NHS.