Endocrine Abstracts (2007) 13 P105

Endocrine genes – are patients getting the optimum fit?

Susan Stewart1, Neil Gittoes2, Vicky Sleighthome1 & Trevor Cole1


1Regional Clinical gentics Unit, Birmingham Women’s Hospital, Birmingham, West Midlands, United Kingdom; 2University Hospital, Birmingham NHS Foundation Trust, Birmingham, West Midlands, &br;United Kingdom.


In response to the 2003 Government White Paper entitled ‘Our future, Our inheritance’, we piloted a project to promote the genetic service within tertiary medicine. Three clinical nurse specialists (CNS); renal, cardiac and endocrine, are the catalyst for interaction between disciplines. This abstract relates the endocrine genetic experience.

Targeting patients and families with genetic endocrine disease is achieved by three methods; identification of patients at routine clinics, retrospective database searches and new referrals.

All endocrine diagnoses with a genetic component are considered, but our focus has been on phaeochromocytoma, medullary thyroid cancer, MEN 1and 2, CAH, osteogenesis imperfecta and hypophosphataemic rickets. Patients are introduced to the genetic service and a family history and summary produced by the CNS. After completing a detailed family history questionnaire appropriate patients are offered a full consultation in newly created, multi-disciplinary clinics with a consultant endocrinologist, clinical geneticist and CNS.

From April – October 2006, 71 patients without previous genetic referral were identified. Affected or at- risk relatives were identified in 19 families and genetic/ endocrine screening initiated as necessary. 28 other patient families, from this group, are under investigation. 33 patients, previously known to Clinical Genetics, requested a specialist clinic appointment for further advice, 18 chose a short CNS consultation and contact again if needed. Logistical constraints include time, information collection, family numbers, language barriers, estranged/consanguineous families, confidentiality, presentation of complicated sensitive information.

Our data suggest that referral to a dedicated endocrine genetic service is both necessary and valuable for patients and families, contributing to best clinical practice. Key to the success of the project is the specialist nurse role, linking the two disciplines and providing an important point of patient contact.

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