EndoGen

The EndoGen National Network of Endocrine Genetic Centres is a clinical and academic initiative bringing together endocrinologists, clinical geneticists, genetic pathologists and genetic scientists involved in the assessment and/or management of patients with genetic endocrinopathies. 

Founded in 2020, the aim of EndoGen is to improve the use of endocrine genetic testing in Australia to enhance patient care. This is achieved through four domains:

1. Clinical: EndoGen hosts a bimonthly virtual National Endocrine Genetics MDT Meeting (dates below) to discuss diagnostic or therapeutic dilemmas e.g., management of variants of uncertain significance, utility of testing family members, gene-specific drug trial options. If you would like to present a case for discussion, please email Sunita.DeSousa@sa.gov.au with a short, deidentified summary of the case and question/s for the MDT.
2. Education: EndoGen is running an endocrine genetics case-based workshop at the 2025 ESA Seminar on Friday 4th April 2025 in Melbourne. In addition, Assoc Prof Sunita De Sousa will deliver a lecture on genetic testing in endocrinology at the 2025 RCPA AACB Chemical Pathology Course on 3rd February 2025 in Adelaide.
3. Advocacy: Recognising the multiple barriers to endocrine genetic testing, EndoGen is investigating how test access may be improved, including the possibility of developing MBS items for endocrine genetic tests. 
4. Research: The EndoGen network may be used to undertake new studies or expand existing projects, with the aims of increasing sample size and team expertise, enhancing clinician familiarity with rare genetic endocrinopathies across Australia and improving patient access to research studies. Suitable research collaborations are currently being explored. Interested researchers with study ideas are encouraged to reach out. 

If you wish to discuss any of the EndoGen initiatives, please email Sunita.DeSousa@sa.gov.au.

EndoGen Steering Committee:
A/Prof Sunita De Sousa (EndoGen Chair)
Dr Nick Boyer
Prof Rory Clifton-Bligh
Dr Lisa Hayes
Dr Raquel Maggacis
Dr Amanda Seabrook

2025 EndoGen National Endocrine Genetics MDT Meeting Dates

(Thursdays, 5pm Adelaide time unless otherwise notified)

• February 20
• April 17
• June 12
• August 7
• October 2
• November 27

To join the EndoGen MDT mailing list (including meeting agendas), please fill out this short form: https://forms.office.com/r/LsPEkSkUzm