Emily DeBortoli

PhD Candidate & Genetic Counsellor

she/her

MSc (Genetic Counselling), BSc (public health)

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A bit about me

As a PhD candidate at the University of Queensland, my research focuses on optimising the integration of genetic testing within paediatric care by considering the needs of children, families, healthcare providers, and health services. My research is informed by my clinical experience as a genetic counsellor, where I support families navigating genetic testing, provide genetic risk assessments, and assist families to understand, cope with, and adjust to complex genetic information. I grew up in regional Queensland before moving to Brisbane to complete a Bachelor of Science from the University of Queensland and later earned a Master of Genetic Counselling from the University of Technology Sydney.

Awards and Recognition

  • 2025 UQ Joan Allsop Scholarship

  • 2025 FI Immunology and Vaccine Development Travel Award

  • 2024 UQ Baillieu Research Scholarship

  • 2024 UQ Higher Degree by Research Travel Award

  • 2024 TRI Foundation Travel Sponsorship Award

  • 2023 HGSA Queensland branch ICG scholarship

  • 2023 Trackgene Australia Education Scholarship Award

Grants and Funding

  • Health Practitioner Research Scheme, Associate Investigator                           

  • University of Queensland, Research Project Scholarship                                                   

  • Australian Academy of Technology and Engineering, ELEVATE post-graduate program

  • University of Queensland, Consumer and Community Involvement Scheme

  • Queensland Tertiary Admissions Centre, Rural and Regional Enterprise Scholarship

Current Projects

Recent Publications

For a full list of publications, see https://orcid.org/0000-0002-9284-9110

  1. Clark, A.,* DeBortoli, E.,* Blancoe, M., Sgro, C., Clinch, T., Melo, M., Pinzon-Charry, A., Sullivan, A., McInerney-Leo, A., Peake, J., McNaughton, P., Yanes, T. (2025) “It’s a Godsend”: Parental Experiences of Genomic Testing for Paediatric Inborn Errors of Immunity. European Journal of Human Genetics. https://doi.org/10.1038/s41431-025-01917-7

  2. DeBortoli, E., McInerney-Leo, A., Macintosh, R., Zelnick, M., Gray, P., McNaughton, P., Yanes, T. (2025) Genetic counselling in paediatric inborn errors of immunity: Perspective piece on current practice and considerations. The Journal of Allergy and Clinical Immunology: In Practice. DOI: 10.1016/j.jaip.2025.03.052  

  3. DeBortoli, E., McGahan, E,. Yanes, T., Berkman, J., Fuentes-Bolanos, N., Milch, V., Steinberg, J., McInerney-Leo, A. (2024) Utility of genomic testing in children, adolescents, and young adults: A scoping review. Journal of National Cancer Institute. https://doi.org/10.1093/jnci/djae233

  4. Berkman, J., DeBortoli, E., Steinberg, J., McInerney-Leo, A. (2024). Mainstreaming Cancer Genomic Testing: A scoping review of the acceptability, efficacy, and impact. Clinical Genetics https:/doi:10.1111/cge.14660 

  5. Dane, A., Berkman, J., DeBortoli, E., Wallingford, C., Yanes, T., McInerney-Leo, A. (2024) Narrative Therapy and Family Therapy in Genetic Counselling: A Systematic Review. The Journal of Genetic Counselling ttps://doi.org/10.1002/jgc4.1938

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