Dr. Rosie O'Shea

• O'Shea R, Clarke R, Berkley E, Giffney C, Farrell M, O'Donovan E, Gallagher DJ., Next generation sequencing is informing phenotype: a TP53 example., Familial cancer, 17, (1), 2018, p123-128Journal Article, 2018, DOI
• Wedd L, Gleeson M, Meiser B, O'Shea R, Barlow-Stewart K, Spurdle AB, James P, Fleming J, Nichols C, Austin R, Cops E, Monnik M, Do J, Kaur R., Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study., Journal of community genetics, 14, (3), 2023, p307-317Journal Article, 2023, DOI
• O'Shea R, Crook A, Jacobs C, Kentwell M, Gleeson M, Tucker KM, Hampel H, Rahm AK, Taylor N, Lewis S, Rankin NM., A mainstreaming oncogenomics model: improving the identification of Lynch syndrome., Frontiers in oncology, 13, 2023, p1140135Journal Article, 2023, DOI
• O'Shea R, Ma AS, Jamieson RV, Rankin NM., Precision medicine in Australia: now is the time to get it right., The Medical journal of Australia, 217, (11), 2022, p559-563Journal Article, 2022, DOI
• O'Shea R, Wood A, Patel C, McCarthy HJ, Mallawaarachchi A, Quinlan C, Simons C, Stark Z, Mallett AJ., Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study., Genes, 13, (10), 2022, p1804Journal Article, 2022, DOI
• Soraru J, Jahan S, Quinlan C, Simons C, Wardrop L, O'Shea R, Wood A, Mallawaarachchi A, Patel C, Stark Z, Mallett AJ., The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology., Frontiers in medicine, 9, 2022, p891223Journal Article, 2022, DOI
• O'Shea R, Taylor N, Crook A, Jacobs C, Jung Kang Y, Lewis S, Rankin NM., Health system interventions to integrate genetic testing in routine oncology services: A systematic review., PloS one, 16, (5), 2021, pe0250379Journal Article, 2021, DOI
• Crook A, Jacobs C, Newton-John T, O'Shea R, McEwen A., Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review., Journal of neurology, 269, (2), 2022, p676-692Journal Article, 2022, DOI
• O'Shea R, Rankin NM, Kentwell M, Gleeson M, Tucker KM, Hampel H, Taylor N, Lewis S., Stakeholders' views of integrating universal tumour screening and genetic testing for colorectal and endometrial cancer into routine oncology., European journal of human genetics : EJHG, 29, (11), 2021, p1634-1644Journal Article, 2021, DOI
• O'Shea R, Rankin NM, Kentwell M, Gleeson M, Salmon L, Tucker KM, Lewis S, Taylor N., How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens., Genetics in medicine : official journal of the American College of Medical Genetics, 22, (9), 2020, p1507-1516Journal Article, 2020, DOI
• Yuen J, Cousens N, Barlow-Stewart K, O'Shea R, Andrews L., Online BRCA1/2 screening in the Australian Jewish community: a qualitative study., Journal of community genetics, 11, (3), 2020, p291-302Journal Article, 2020, DOI
• Dwarte T, Barlow-Stewart K, O'Shea R, Dinger ME, Terrill B., Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners., Journal of genetic counseling, 28, (2), 2019, p378-387Journal Article, 2019, DOI
• Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV, DDD study., Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data., Lancet (London, England), 385, (9975), 2015, p1305-1314Journal Article, 2015, DOI
• Luermans JFleming J, O'Shea R, Barlow-Stewart K, Palmer EE, Leffler M, "We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia., American Journal of Medical Genetics Part A, 2023Journal Article, 2023, DOI , URL
• Ma A, O'Shea R, Wedd L, Wong C, Jamieson R, Rankin N, What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability, European Journal Of Human Genetics, 2024Journal Article, 2024, DOI , URL
• Paneque M, O"Shea R, Narravula A, Siglen E, Ciuca A, Abulí A, Serra-Juhe C. , Thirty-years of genetic counselling education in Europe: a growing professional area. , European Journal Of Human Genetics, 2024Journal Article, 2024, DOI
• Ma A, Newing TP, O'Shea R, Jamieson R, Rankin N, Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine, Journal of Peaditric Child Health, 2024Journal Article, 2024, DOI
• Jayasinghe K, Biros E,Harris T, Wood A, O"Shea R,....Mallett A., Implementation and evaluation of a national multidisciplinary kidney genetics clinic network over ten years, Kidney International Reports, 2024, pdoi.org/10.1016/j.ekirJournal Article, 2024, DOI
• Mallawaarachchi, A Fowles, L Wardrop, L Wood, Al O"Shea, R...Malllatt A., Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study, Clinical Journal of the American Society of Nephrology, 2024, p10.2215/CJN.0000000000000464Journal Article, 2024, DOI
• O'Shea R, Murphy AM, Treacy E, Lynch SA, Thirlaway K, Lambert D, Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics., Journal of genetic counseling, 20, (2), 2011, p192-203Journal Article, 2011, DOI

Translational clinical genomic research, Genomic implementation and health services research Genetic counselling leadership and global partnerships

• Title

  Genomics and Precision Medicine Partnerships
  Summary

  Developing a translational research project focusing on genomic multidisciplinary models of care, genomic upskilling and mainstreaming into non-genetics specialties. Click here for more information - https://sydneyhealthpartners.org.au/genomics/
  Funding Agency

  Sydney Health Partners
• Title

  An alternative pathway to improve Access to Cascade Genetic Testing (ACGT) for people with a high risk for hereditary cancer predisposition
  Summary

  Irish Cancer Society funded study which aims to improve access to cascade genetic testing in the cancer genetic service in St James Hospital. Cascade genetic testing occurs in families where a known cancer predisposition gene is found and is associated with a high lifetime cancer risk. A two-year wait exists for family members to access genetic counselling for cascade genetic testing in the service. Innovate service delivery solutions are required to overcome the access delay and the downstream effect of delayed cancer prevention and screening. This research project will develop and evaluate an alternative pilot digital cascade genetic testing pathway for those at high risk of inheriting a cancer pre-disposition gene.
  Funding Agency

  Irish Cancer society
  Date From

  2024
  Date To

  2026

Health services and systems, Genetics,

• Irish cancer Society Allied Health Professional Cancer Research Award 2023 2023
• 2018-2021 TCRN Clinical PhD award
• 2018-2021 Cancer Council New South Wales PhD Scholarship Award

• American Society of Human Genetics (ASHG)
• European Society of Human Genetics (ESHG)
• Association of Genetic Nurses and Counsellors (AGNC)
• Irish Society of Human Genetics (ISHG)
• Translational Cancer Research Network (TCRN) NSW
• Human genetics Society of Australasia (HGSA)