The EndoGen National Endocrine Genetics Network 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:
Clinical: EndoGen hosts a bimonthly virtual National Endocrine Genetics MDT Meeting to discuss diagnostic or therapeutic dilemmas e.g., further steps after negative testing, management of variants of uncertain significance.
Education: EndoGen members regularly deliver teaching to our partner societies, with workshops conducted in recent years at the meetings of ESA, ADS and RCPA. Other educational initiatives include contributions to relevant national and international guidelines including eviQ protocols, and establishment in 2026 of the EndoGen Prize – a new award session at the ESA Annual Scientific Meeting recognising the best oral case studies in the field of endocrine genetics. EndoGen has also collaborated with Genomics Australia to develop Endocrine Genetic Disease Decision Aids – a suite of point-of-care aids to inform genetic testing decision-making.
Advocacy: Recognising the multiple barriers to endocrine genetic testing, EndoGen is actively working on applications for MBS items for endocrine genetic tests in collaboration with partner societies.
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. Researchers with study proposals 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 (Chair), Dr Nick Boyer, Prof Rory Clifton-Bligh, Dr Lisa Hayes, Dr Raquel Maggacis, Dr Amanda Seabrook
2026 EndoGen MDT Meeting Dates (Fridays, 11am Sydney time)
26th June
28th August
16th October
11th December
To join the MDT mailing list for meeting links and updates, please complete this short form: https://forms.office.com/r/LsPEkSkUzm.
These aids have been developed as a collaboration between Australian Genomics and the EndoGen National Endocrine Genetics Network. The aids aim to guide endocrinologists and clinical geneticists to request genetic and genomic testing to diagnose endocrine conditions with genetic aetiologies. Guidance is provided on specific diagnostic features and associated recommendations for genetic and genomic testing.
Endocrine Genetic Disease Decision Aids (PDF)
Endocrine Genetic Disease Decision Aid Project Members
Chair:
Dr Chirag Patel (Clinical Geneticist, Genetic Health Queensland, QLD)
Working group:
Dr Pierre-Nicolas Boyer (Endocrinologist, Toowoomba Hospital, QLD)
Dr Christopher Richmond (Clinical Geneticist, Genetic Health Queensland, QLD)
Dr Lisa Hayes (Endocrinologist, Princess Alexandra Hospital, QLD)
Associate Professor Sunita De Sousa (Endocrinologist, Royal Adelaide Hospital, SA)
Professor Louise Conwell (Paediatric Endocrinologist, Queensland Children’s Hospital, QLD)
Project co-ordinators:
Michael Quinn (Australian Genomics)
Human Factors expert:
Rebecca Wang (Queensland Innovation Living Lab, Clinical Skills Development Service, QLD)
Digital designer:
Liana Cross (Australian Genomics)
Page last updated: June 2026