Overview
Background
I am a clinician-academic whose interactions with patients have shaped my research questions and fuelled my enthusiasm for the importance of clinical research. I trained as a genetic counsellor and my research now focuses on the integration of genomics into clinical care. My research program has had three primary themes: evaluating the psychosocial impact of genetic conditions and/or genetic testing; evaluating genetics education preferences for patients and healthcare providers; and using next-generation sequencing to increase diagnostic yield for rare disorders.
Current research projects include:
- Exploring whether genetic fatalism affects sun-related health behaviours in high-risk individuals following genetic testing.
- Exploring the referral journey to genetic services for individuals with rare diseases
- Assessing Human Research Ethics Committee (HREC) members’ confidence in reviewing genomic research applications.
- Mainstreaming Genetic Testing for Melanoma into Dermatology Practice.
- Using Exome sequencing to identify new genes in families with inherited melanoma, negative for mutations in known genes.
Availability
- Associate Professor Aideen McInerney-Leo is:
- Available for supervision
Qualifications
- Masters (Coursework) of Science, The University of Manchester
- Doctor of Philosophy, The University of Queensland
Research interests
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Integrating genetic testing for melanoma into dermatology practice
Our study explores whether upskilling dermatologists to offer genetic testing for melanoma is acceptable to dermatologists and whether patient outcomes, as compared to when genetic testing is offered by a genetic counsellor.
Works
Search Professor Aideen McInerney-Leo’s works on UQ eSpace
2026
Journal Article
“There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians
Nathan, Vaishnavi, Akbar, Heena, McInerney-Leo, Aideen, Gilroy, Deborah, Henders, Anjali, Naresh, Reema, Choudhury, Nahid, Waqar, Maleeha, Shah, Sonia, Yanes, Tatiane, on behalf of the South Asian Genes and Health in Australia (SAGHA) research team, Atherton, John, Greaves, Kim, McGaughran, Julie, Mehta, Divya, Villani, Rehan Marie, Wallis, Katharine and Wray, Naomi R. (2026). “There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians. European Journal of Human Genetics. doi: 10.1038/s41431-026-02129-3
2026
Journal Article
How has the rise of direct‐to‐consumer genetic testing impacted genetic counselling practice? A scoping review
McKinney, Cushla, Newton, Giselle, Nathan, Vaishnavi and McInerney‐Leo, Aideen (2026). How has the rise of direct‐to‐consumer genetic testing impacted genetic counselling practice? A scoping review. Clinical Genetics, 109 (5) cge.70150, 819-836. doi: 10.1111/cge.70150
2026
Conference Publication
Review of HS genetics and whole exome sequencing of Australia's first Hidradenitis Suppurativa cohort
Maas, Ellie, Kahler, Sam, Snehlata, Kumari, Khosrotehrani, Kiarash, McMeniman, Erin and McInerney-Leo, Aideen (2026). Review of HS genetics and whole exome sequencing of Australia's first Hidradenitis Suppurativa cohort. Australasian College of Dermatologists, 58th Annual Scientific Meeting, Melbourne, VIC, Australia, 16-18 May 2026. Richmond, VIC, Australia: John Wiley & Sons. doi: 10.1111/ajd.70104
2026
Conference Publication
Three dimensional total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk
Kahler, Sam, Primiero, Clare, Mothershaw, Adam, Jayasinghe, Dilki, Betz-Stablein, Brigid, Janda, Monika, Soyer, H. Peter and McInerney-Leo, Aideen (2026). Three dimensional total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk. Australasian College of Dermatologists, 58th Annual Scientific Meeting, Melbourne, VIC, Australia, 16-18 May 2026. Richmond, VIC, Australia: John Wiley & Sons. doi: 10.1111/ajd.70101
2026
Journal Article
Preparing healthcare providers to use polygenic risk scores: a qualitative study of learning needs and educational preferences
Clark, Amy, Wallingford, Courtney K., Berkman, Jennifer, McInerney-Leo, Aideen, Nisselle, Amy, Terrill, Bronwyn, Palpant, Nathan, Young, Mary-Anne, James, Paul A. and Yanes, Tatiane (2026). Preparing healthcare providers to use polygenic risk scores: a qualitative study of learning needs and educational preferences. BMJ Open, 16 (5) e111898, e111898-5. doi: 10.1136/bmjopen-2025-111898
2026
Journal Article
AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways
Thüß, Dörthe, Liu, Ying, Dougherty, Gerard W., Maas, Ellie J., He, Jie, Zhou, Xianglin, Schultz, André, Nielsen, Kim G., Omran, Heymut, Luo, Hong, the AK8 Study Group, McInerney-Leo, Aideen M., Yang, Binyi, Yang, Danhui, Lei, Cheng, Guo, Ting, Guo, Manqing, Fan, Hui, Ding, Shuizi, Liu, Lv, Duncan, Emma L., Wohlgemuth, Kai, Bracht, Diana C., Olbrich, Heike, Loges, Niki T., Rieck, Cynthia, Wilken, Alina, König, Julia, Hjeij, Rim ... Otto, Dominik (2026). AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways. American Journal of Respiratory and Critical Care Medicine aamag214. doi: 10.1093/ajrccm/aamag214
2026
Journal Article
Consumer and community involvement in health research in Australia: evaluation of researcher training workshops
McGahan, Ella G., DeBortoli, Emily, Maxwell, Jo, Frank, Belinda, McKenzie, Anne and McInerney-Leo, Aideen M. (2026). Consumer and community involvement in health research in Australia: evaluation of researcher training workshops. Public Health Research and Practice, 36 (2) PU25010. doi: 10.1071/pu25010
2026
Journal Article
Genotype- dermatological phenotype correlations in CDKN2A, POT1, POLE, BAP1 variant carriers using 3D total-body-imaging
Maas, Ellie J., Kahler, Sam, Betz-Stablein, Brigid, Gillis, Maura C., Primiero, Clare, Portony, Miriam, Mothershaw, Adam, Berkman, Jenny, De Bortoli, Emily, Pham, Thi, Weir, Vanessa, Kurtansk, Nicholas, Serra-García, Laura, Carrera, Cristina, Aguilera, Paula, Malvehy, Josep, Puig, Susana, Rotemberg, Veronica, Soyer, H. Peter and McInerney-Leo, Aideen M. (2026). Genotype- dermatological phenotype correlations in CDKN2A, POT1, POLE, BAP1 variant carriers using 3D total-body-imaging. British Journal of Dermatology ljag137. doi: 10.1093/bjd/ljag137
2026
Journal Article
Automating skin colour assessment using 3D total‐body photography: A proof‐of‐concept study
Rutjes, Chantal, Primiero, Clare A., Mothershaw, Adam, Betz‐Stablein, Brigid, Muller, Nicholas M., Liu, Timothy J., McInerney‐Leo, Aideen, Janda, Monika, Soyer, Hans Peter and Jayasinghe, Dilki (2026). Automating skin colour assessment using 3D total‐body photography: A proof‐of‐concept study. Journal of the European Academy of Dermatology and Venereology, 40 (3) jdv.70146, 528-530. doi: 10.1111/jdv.70146
2026
Journal Article
3D-total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk
Kahler, Sam, Primiero, Clare, Mothershaw, Adam, Jayasinghe, Dilki, Rutjes, Chantal, Betz-Stablein, Brigid, Janda, Monika, Soyer, H. Peter and McInerney-Leo, Aideen (2026). 3D-total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk. British Journal of Dermatology, 194 (3) ljaf440, 531-539. doi: 10.1093/bjd/ljaf440
2026
Journal Article
MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
Kahler, Sam, Serra-García, Laura, Maas, Ellie, Potrony, Miriam, Aguilera, Paula, Mothershaw, Adam, Primiero, Clare, Malvehy, Josep, Soyer, H. Peter, Puig, Susana and McInerney-Leo, Aideen (2026). MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants. Journal of Investigative Dermatology. doi: 10.1016/j.jid.2026.03.017
2026
Journal Article
Population‐based melanoma screening using integrated risk scores in Australia: A narrative review to determine readiness
Wallingford, Courtney K., Mighton, Chloe, Dawson, Tamara, Cust, Anne, Soyer, H. Peter, Bombard, Yvonne, Yanes, Tatiane and McInerney‐Leo, Aideen (2026). Population‐based melanoma screening using integrated risk scores in Australia: A narrative review to determine readiness. Medical Journal of Australia, 224 (2) e70133, 1-11. doi: 10.5694/mja2.70133
2025
Conference Publication
A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity
DeBortoli, Emily, Clinch, Tenielle, Burbury, Lucy, Clark, Amy, Pinzon-Charry, Alberto, Melo, Mariana, Sullivan, Anna, Peake, Jane, McInerney-Leo, Aideen, McNaughton, Peter, Taylor, Natalie, McKay, Skye and Yanes, Tatiane (2025). A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity. 35th Annual Conference of the Australasian Society of Clinical Immunology and Allergy (ASCIA), Brisbane, QLD Australia, 2-5 September 2025. New York, NY United States: Rockefeller University Press. doi: 10.70962/ascia2025abstract.p154
2025
Journal Article
Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohort
Maas, Ellie J., Wallingford, Courtney K,, De Bortoli, Emily, Primiero, Clare, Freeman, Ned P., Smit, Darren J., Lee, Katie J., Jagirdar, Kasturee, McMeniman, Erin, Betz-Stablein, Brigid, Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen (2025). Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohort. Journal of the European Academy of Dermatology and Venereology: JEADV, 39 (11) e950, 1-6. doi: 10.1111/jdv.20673
2025
Journal Article
Privacy in imaging for dermatology research
Caffery, Liam J., Sullivan, Ryan P., McInerney-Leo, Aideen, Lawn, Craig, Mendis, Roshni A., Janda, Monika, Halpern, Allan C. and Soyer, H. Peter (2025). Privacy in imaging for dermatology research. Journal of Investigative Dermatology, 145 (11), 2662-2664. doi: 10.1016/j.jid.2025.06.1288
2025
Conference Publication
"It's a godsend" A qualitative exploration of parent experiences of mainstreamed genetic testing for inborn errors of immunity
Yanes, Tatiane, DeBortoli, Emily, Clark, Amy, Blancoe, Marisa, Sgro, Chris Rocco, McInerney-Leo, Aideen, Pinzon-Charry, Alberto, Melo, Mariana, Peake, Jane, Sullivan, Anna and McNaughton, Peter (2025). "It's a godsend" A qualitative exploration of parent experiences of mainstreamed genetic testing for inborn errors of immunity. 58th European Society of Human Genetics (ESHG) Conference, Milan, Italy, 24-27 May 2025. London, United Kingdom: Nature Publishing Group. doi: 10.1038/s41431-025-01936-4
2025
Conference Publication
Polygenic risk in practice: an evaluation of genetic health care providers' learning needs and preferences
Berkman, Jennifer, Clark, Amy, Wallingford, Courtney K., Nisselle, Amy, Terrill, Bronwyn, Young, Mary-Anne, James, Paul, McInerney-Leo, Aideen and Yanes, Tatiane (2025). Polygenic risk in practice: an evaluation of genetic health care providers' learning needs and preferences. 58th European Society of Human Genetics (ESHG) Conference, Milan, Italy, 24-27 May 2025. London, United Kingdom: Nature Publishing Group. doi: 10.1038/s41431-025-01935-5
2025
Conference Publication
Mainstreaming genomic testing for paediatric inborn errors of immunity
DeBortoli, Emily, Clinch, Tenielle, McInerney-Leo, Aideen, Sullivan, Anna, Pinzon-Charry, Alberto, Melo, Mariana, Peake, Jane, McNaughton, Peter and Yanes, Tatiane (2025). Mainstreaming genomic testing for paediatric inborn errors of immunity. 58th European Society of Human Genetics (ESHG) Conference, Milan, Italy, 24-27 May 2025. London, United Kingdom: Nature Publishing Group. doi: 10.1038/s41431-025-01935-5
2025
Journal Article
Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma–Breast Cancer Genotype–Phenotype Correlation
Berkman, Jennifer, Maas, Ellie J., DeBortoli, E., Primiero, Clare A., Soyer, H. Peter and McInerney‐Leo, Aideen (2025). Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma–Breast Cancer Genotype–Phenotype Correlation. Pigment Cell & Melanoma Research, 38 (5) e70055, 1-6. doi: 10.1111/pcmr.70055
2025
Journal Article
Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember”
Burbury, Lucy, Ayres, Samantha, Boyle, Jackie, Renton, Heather and McInerney-Leo, Aideen (2025). Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember”. Journal of Genetic Counseling, 34 (4) e70102. doi: 10.1002/jgc4.70102
Funding
Current funding
Supervision
Availability
- Associate Professor Aideen McInerney-Leo is:
- Available for supervision
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Supervision history
Current supervision
-
Doctor Philosophy
Integrating genomics and deep phenotyping to optimise care for paediatric hearing loss
Principal Advisor
-
Doctor Philosophy
Developing and implementing interventions to facilitate the utilisation of polygenic risk scores in risk stratifying older populations for degenerative eye disease
Principal Advisor
Other advisors: Dr Tatiane Yanes, Associate Professor Amy Nisselle
-
Doctor Philosophy
Facilitating the integration of genomics into healthcare
Associate Advisor
Other advisors: Dr Adam Hulme, Dr Tatiane Yanes
-
Doctor Philosophy
Integrating established and emerging genomic testing into clinical cancer care
Associate Advisor
Other advisors: Dr Tatiane Yanes
-
Doctor Philosophy
Development and evaluation of model of care for implementation of genomic testing for paediatric healthcare
Associate Advisor
Other advisors: Dr Tatiane Yanes
Completed supervision
-
2026
Doctor Philosophy
Phenotypic and genomic risk factors for invasive and in situ melanoma
Principal Advisor
Other advisors: Professor Peter Soyer
-
2024
Doctor Philosophy
Unusual suspects in hereditary melanoma: phenotype-genotype characterisation of POT1, POLE and BAP1
Principal Advisor
Other advisors: Professor Peter Soyer
-
2023
Doctor Philosophy
Mainstreaming Genetic Testing for Familial Melanoma: evaluating whether psycho-behavioural outcomes differ depending on provider type
Principal Advisor
Other advisors: Professor Peter Soyer
-
2025
Doctor Philosophy
3D Total-Body Photography and Automated Tools for Melanoma Risk Assessment: Potential Utility and Validation
Associate Advisor
Other advisors: Professor Peter Soyer
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2024
Doctor Philosophy
Translating polygenic and personalised risk scores: Acceptability and impact of providing polygenic and personalised risk information for melanoma
Associate Advisor
Other advisors: Professor Peter Soyer, Dr Tatiane Yanes
Media
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