Endocrine Abstracts

Introduction: Genetic testing for Familial Endocrine Syndromes has an important role in diagnosis, timing/extent of surgery, and follow-up. Our survey explored experiences and attitudes towards genetic testing in the UK and Abroad.

Methods: Attendees of 2022 Conferences of ESES, BSPED, SfE, BAETS and AsianAES were asked to participate in an online survey (31 questions on demographics; genetic testing availability and experiences; clinical scenarios).

Results: One-hundred-and-eight surveys were completed (male:51;47%). Most were ≥40years (n=71;66%); and majority were surgeons (n=67;62%). Fifty-one (47%) were from the UK and 57(53%) from Abroad; 56% worked in teaching hospitals. Most respondents (75%) had seen patients with potentially genetic endocrine disorders very/somewhat often, and <5% infrequently/rarely; similar for surgeons vs physicians; and UK vs Abroad (both P>0.05). Genetic services were generally available (88%), alike for surgeons vs physicians, and for UK vs Abroad (both P>0.05). Overall, 69% felt that genetics referrals were very/somewhat easy. Only 35% could request testing themselves, UK (49%) more than non-UK (23%;P<0.05), and surgeons (27%) less than physicians (49%; P<0.05). The majority (mean:84%) would request genetic testing in the scenarios for which it would be recommended by current guidelines; similar for surgeons vs physicians, and for UK vs Abroad (both P>0.05). Specifically for MEN-1, if ≥2 tumours, 54% would always request genetics, compared to 18% if one potentially associated tumour. In the latter scenario, 41% surgeons would always/sometimes request vs 7% of physicians (P<0.05). Geographically, UK (always:71%/never:5%) vs Abroad (39%/32%) always/never requested genetics in this scenario (P<0.05).

Conclusion: The respondents represent real-world evidence of genetic testing in endocrine patients. The majority had similar experiences and attitudes. However, physicians were more likely to request test than surgeons, and UK more than Abroad. This should be explored further, as it might delay timely performance of genetic testing.