BSPED2024 Poster Presentations Miscellaneous/Other 2 (9 abstracts)
Genotes for clinicians – a genomic testing resource for paediatric endocrinologists
Sinead McGlacken-Byrne 1 , Shailesh Gohil 2 , GeNotes Consortium 3 , Louise Izatt 4 , Marta Korbonits 5 , Miles Levy 2,6 & Sasha Howard 5
1Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; 2University Hospitals of Leicester NHS Trust, Leicester, United Kingdom, Leicester, United Kingdom; 3United Kingdom; 4Guys and St Thomas’ NHS Foundation Trust, London, United Kingdom; 5Queen Mary University of London, London, United Kingdom; 6University of Leicester, Leicester, United Kingdom
Introduction: Genomic testing is increasingly embedded within mainstream clinical paediatric endocrinology care, facilitated by initiatives such as The National Genomic Test Directory which outline genomic tests currently commissioned by NHS England. Paediatric endocrinologists therefore require a knowledge of which (if any) genomic tests would facilitate the management of a young person presenting with an endocrine disorder; when and how to order them; and what to do with the results.
Discussion: To develop requisite knowledge and awareness of genomic testing, the Genomics Education Programme of NHS England has developed an educational resource available to all adult and paediatric endocrinologists for use in clinical settings – the Genomics Notes for Clinicians (GeNotes) programme. Two categories of resources, Tier 1 and Tier 2, have been written and reviewed by specialists in the field and are available on the GeNotes website (www.genomicseducation.hee.nhs.uk). Tier 1 resources centre around commonly encountered clinical scenarios, explaining which genetic testing should be considered, how to order this, and which type of testing (e.g., genetic panel, exome sequencing) can be requested for that specific scenario. Tier 2 resources are more knowledge-based and expand on specific conditions, covering an overview, clinical features, genetic causes, genetic testing, genetic counselling, and how to integrate genetic testing into management.
Summary: Paediatric endocrinologists may feel uncertain or apprehensive about ordering genetic tests for children with paediatric endocrine conditions under their care. The GeNotes resources will empower paediatric endocrinologists to navigate the contemporary landscape of genomic testing in mainstream clinical care.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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