Endocrine Abstracts

Introduction: Genomic testing is expected to become a part of mainstream testing in the not-too-distant future, with clinicians ordering genetics tests in the same way routine endocrine tests are requested today. Knowledge on how and what test to request needs to be gathered by a wide range of physicians. To support this, the Genomics Education Programme of NHS England is developing a resource for all endocrinologists to use in clinic as part it’s Genomic Notes for Clinicians (GeNotes) programme. Two resources (tier 1 and tier 2) will be available on a dedicated section for Endocrinology on the GeNotes website, written and reviewed by specialists in the field. One will direct users to commonly encountered clinical scenarios. Each scenario is concise and gives a typical case, explains when genetic testing should be considered, what you need to do, and which type or panel of tests to order. Extra resources for clinicians and patients are also included. The second resource (tier 2) will be more knowledge based and expand on specific conditions with an overview; clinical features; genes; inheritance and genetic counselling; differential diagnosis and management. Further resources for clinicians and patients will be included.

Summary: The majority of endocrinologists feel apprehensive about ordering genetic tests. GeNotes will help endocrinologists identify patients in need and suitable for genetic testing and help navigate the National Genomic Test directory to empower clinicians to request the right genetic test for patients wherever they are.