Genetic Counselling

A number of eye conditions, including glaucoma, can have a genetic cause. Our research team works towards better understanding genetic results, and improve results communication and genetic counselling experience for individuals and their families.

We work with people with lived experience of glaucoma to develop the best strategies to communicate genetic results, assess the implications and impact of genetic testing, and improve access and integration of genomics into clinical care.

Our research projects

Gene discovery and characterisation for glaucoma. The Australian and New Zealand registry of advanced glaucoma aims to identify new genes for childhood and adult-onset glaucoma, detect individuals at high risk in families and characterise the associated phenotypes.
Improve the clinical integration of genomic testing for families affected by rare, heritable eye diseases (MRFF Genomics Health Future 2025-current). This study aims to investigate the barriers and facilitators to accessing genetic services for families with childhood glaucoma, congenital cataracts, and retinoblastoma, to develop actionable recommendations and trial proposed solutions.
Psychosocial impact and understanding of polygenic risk scores for glaucoma (BrightFocus Postdoctoral Fellowship in National Glaucoma Research, 2022-current). This study aims to develop reporting strategies for glaucoma polygenic risk score, assess the short and long-term impact as well as the comprehension of communicating results.
Evaluate the clinical relevance of gene and variants associated with glaucoma. Through ClinGen, international Expert Panels for gene and variant curation are assessing the clinical validity of gene-disease relationships and developing variant classification criteria for glaucoma-associated genes to improve variant curation.

Key publications

Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening. Hollitt GL, Hassall NN, Siggs OM, Craig JE, Souzeau E (2025). BMC Med Genom. 18(1):21
Impact of polygeNic risk Score for Glaucoma on psycHosocial ouTcomes (INSiGHT) Study Protocol. Maxwell G*, Allen R*, Kelley S, Hodge L, Hollitt GL, Seviiri M, Thomson D, Schmidt J, Craig JE, Cohen-Woods S*, Souzeau E* (2024). PLoS One. 19(12):e0312390
Childhood glaucoma: implications for genetic counselling. Maxwell G, Souzeau E (2024). Clin Genet. 106(5):545-63
Specifications of the ACMG/AMP variant curation guidelines for myocilin: recommendations from the Clingen Glaucoma Expert Panel. Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, Fingert JH, Hewitt AW, Siggs OM, Whisenhunt K, Young TL, Mackey DA, Dubowsky A, Souzeau E (2022). Hum Mutat. 43(12):2170-86
Quality of life in adults with childhood glaucoma: An interview study. Knight LSW, Ridge B, Staffieri SE, Craig JE, Prem Senthil M, Souzeau E (2022). Ophthalmol Glaucoma. 5(3):325-36
Childhood and Early-Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry. Knight LSW, Ruddle JB, Taranath DA, Goldberg I, Smith JEH, Gole G, Chiang MY, Willett F, D’Mellow G, Breen J, Qassim A, Mullany S, Elder JE, Vincent AL, Staffieri SE, Kearns LS, Mackey DA, Luu S, Siggs OM*, Souzeau E*, Craig JE* (2021). Ophthalmology. 128(11):1549-60

Resources

Glaucoma Australia

The Glaucoma Australia website has resources to support people living with glaucoma

Funders and partners

BrightFocus Foundation (Emmanuelle)
MRFF (Jamie & Emmanuelle)
NHMRC

Our team

Emmanuelle Souzeau, Research Fellow

Dr Emmanuelle Souzeau is a research fellow and genetic counsellor at Flinders University with over 16 years’ experience in clinical and research genetics. She leads the genetic testing program of the Australian and New Zealand Registry of Advanced Glaucoma, with a research focus on the genetic causes of glaucoma, the psychosocial implications of testing, and best practices for communicating results. Emmanuelle co-chairs international expert panels for ClinGen and is passionate about mentoring, personalised care, and improving access to genetic testing.