Speed Poster ESA-SRB-APEG-NZSE 2022

Survey of Australasian clinicians to assess current care provision models and the use of genetic testing in Differences of Sex Development (DSD) (#72)

Gabby Atlas 1 2 3 4 , Tiong Tan 2 3 5 , Andrew Sinclair 2 3 , Michele O'Connell 1 2 3
  1. Endocrinology and Diabetes, Royal Children's Hospital, Melbourne
  2. Reproductive Development, Murdoch Children's Research Institite, Parkville
  3. Department of Paediatrics, University of Melbourne, Parkville
  4. Paediatric Endocrinology, Joan Kirner Womens and Children's Hospital, Melbourne
  5. Victorian Clinical Genetics Service, Melbourne

Pathways of care for management of DSD are evolving, with poorly described models of care and limited evidence-based guidelines. This study aimed to explore current care models for individuals with DSD in Australasia, to identify perceived gaps/strengths/barriers in current practice and explore the diagnostic approach of clinicians, particularly in regards to genetic testing.

An anonymous REDCap online survey was undertaken, recruiting clinicians involved in the diagnosis/management of DSD. The survey questions included demographics, terminology, perceptions of changes/barriers, benefits/downsides to genetic testing, the DSD multidisciplinary team (MDT), availability of genetics and opinions on the role/utility of genetic testing in DSD. Results are reported as a percentage of respondents for that question, with branching logic used.

There were 59 partial and 53 complete responses to the survey, from all states and territories of Australia/New Zealand. 35/56(63%) respondents had an established MDT at their centre, with only 7/35(20%) having psychology involved. 41/56(73%) identified changes to DSD diagnosis/management over the past 5 years, predominantly an increase in genetic testing(54%), introduction of an MDT(51%) and decrease in surgical intervention(44%). The  benefit in having a genetic diagnosis in DSD was almost unanimous (96%) with 44% of respondents reporting barriers in genetic testing. Respondents perceived genetic testing in DSD to be underutilised (mean 37 on a sliding scale, with 0=underutilised and 100=overutilised). Approaches to genetic testing when faced with four different clinical scenarios varied across respondents (Table 1).

Responses to the survey identifies gaps and barriers to DSD care across Australasia, in particular the lack of psychosocial supports (an internationally recognised standard of care). There is a discrepancy between the perceived benefit of genetic testing and application to clinical care. Lack of consensus in management highlights the need for further education, nationwide clinical guidelines and improving access to both MDT care and genetic testing in DSD.62fee80377f6c-Table+1+-+APEG+abstract.jpg