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 from the University of Queensland. I later earned a Master of Genetic Counselling from the University of Technology Sydney before commencing a PhD at the University of Queensland in 2024, focusing on mainstreaming genomic testing for paediatric inborn errors of immunity.

Awards and Recognition

• 2023 Human Genetics Society of Australasia Queensland branch International Congress of Genetics scholarship ($600 for International Congress of Genetics registration support)

• 2023 Trackgene Australia Education Scholarship Award ($1,000 for Australasian Society of Genetic Counsellors SIG meeting registration support)

• 2024 University of Queensland Baillieu Research Scholarship ($4,900 to support attendance at ESID 2024 and ASCIA 2024 conference)

• 2024 University of Queensland Higher Degree by Research Travel Award ($2,000 to support attendance at ESHG 2025)

• 2024 Translational Research Institute Foundation Travel Sponsorship Award ($1,500 to support attendance at HGSA 2025)

Grants and Funding

• University of Queensland Higher Degree by Research Consumer and Community Involvement Kickstart Scheme ($500 to support consumer and community involvement in my PhD thesis)

Current Projects

• BRIDGE: Building Resources for Immunology Diagnostic Genomics

• Mainstreaming melanoma genetic testing

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 (IF: 11.5). 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 (IF: 2.8). 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 (IF:1.9). https://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 (IF:3.5). 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 (IF:3.9). https://doi: 10.1111/pcmr.13122 

6. Maas, E., Wallingford, C., DeBortoli, E., Smit, D., Betz-Stablein, B., Aoude, L., Stark, M., Sturm, R., Soyer, HP., McInerney-Leo, A. (2023). GOLM1: expanding our understanding of melanoma susceptibility. The Journal of Medical Genetics (IF:3.5). https://doi 10.1136/jmg-2023-109348

7. DeBortoli, E., Soyer, HP., Milne, D., Dissanayaka, N., Gartner, C., Holt, J., Rae, K., Robison, L., Wallingford, C., McInerney-Leo, A. (2022). Measurable outcomes of consumer engagement in health research: A scoping review. Frontiers in Public Health (IF:4.8). https://doi:10.3389/fpubh.2022.994547