Emily DeBortoli

PhD Candidate & Research Genetic Counsellor

(she/her)

MSc (Genetic Counselling), BSc (public health)

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A Bit About Me

I am currently a research genetic counsellor and PhD candidate at the University of Queensland. I grew up in regional Queensland before moving to Brisbane to complete a Bachelor of Science. I later earned a Master's of Genetic Counselling before commencing a PhD in 2024, focusing on mainstreaming genomic testing for paediatric immunology conditions.

Awards and Recognition

  • 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

  • UQ Higher Degree by Research Consumer and Community Involvement Kickstart Scheme 

Recent Publications

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

  1. 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

  2. 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 

  3. 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

  4. Maas, E., DeBortoli, E., Nathan, V., Freeman, N., Mothershaw, A., Betz-Stablein, B., Smit, D., Stark, M., Aoude, L., Sturm, R., Soyer, H.P., McInerney-Leo, A. (2023) POT1 and familial melanoma: The dermatological phenotype. The Journal of Medical Genetics DOI: 10.1136/jmg-2023-109637

  5. Wallingford, C., Maas, E., Howard, A., DeBortoli, E., Bhanja, D., Lee, K., Mothershaw, A., Jagirdar, K., Willett, R., Betz-Stablein, B., Sturm, R., Soyer, HP., McInerney-Leo, A. (2023). MITF E318K: a rare homozygous case with multiple primary melanomas. Pigment Cell & Melanoma Research https://doi: 10.1111/pcmr.13122 

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