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
• McRae, J.F. and Clayton, S. and Fitzgerald, T.W. and Kaplanis, J. and Prigmore, E. and Rajan, D. and Sifrim, A. and Aitken, S. and Akawi, N. and Alvi, M. and Ambridge, K. and Barrett, D.M. and Bayzetinova, T. and Jones, P. and Jones, W.D. and King, D. and Krishnappa, N. and Mason, L.E. and Singh, T. and Tivey, A.R. and Ahmed, M. and Anjum, U. and Archer, H. and Armstrong, R. and Awada, J. and Balasubramanian, M. and Banka, S. and Baralle, D. and Barnicoat, A. and Batstone, P. and Baty, D. and Bennett, C. and Berg, J. and Bernhard, B. and Bevan, A.P. and Bitner-Glindzicz, M. and Blair, E. and Blyth, M. and Bohanna, D. and Bourdon, L. and Bourn, D. and Bradley, L. and Brady, A. and Brent, S. and Brewer, C. and Brunstrom, K. and Bunyan, D.J. and Burn, J. and Canham, N. and Castle, B. and Chandler, K. and Chatzimichali, E. and Cilliers, D. and Clarke, A. and Clasper, S. and Clayton-Smith, J. and Clowes, V. and Coates, A. and Cole, T. and Colgiu, I. and Collins, A. and Collinson, M.N. and Connell, F. and Cooper, N. and Cox, H. and Cresswell, L. and Cross, G. and Crow, Y. and D'Alessandro, M. and Dabir, T. and Davidson, R. and Davies, S. and De Vries, D. and Dean, J. and Deshpande, C. and Devlin, G. and Dixit, A. and Dobbie, A. and Donaldson, A. and Donnai, D. and Donnelly, D. and Donnelly, C. and Douglas, A. and Douzgou, S. and Duncan, A. and Eason, J. and Ellard, S. and Ellis, I. and Elmslie, F. and Evans, K. and Everest, S. and Fendick, T. and Fisher, R. and Flinter, F. and Foulds, N. and Fry, A. and Fryer, A. and Gardiner, C. and Gaunt, L. and Ghali, N. and Gibbons, R. and Gill, H. and Goodship, J. and Goudie, D. and Gray, E. and Green, A. and Greene, P. and Greenhalgh, L. and Gribble, S. and Harrison, R. and Harrison, L. and Harrison, V. and Hawkins, R. and He, L. and Hellens, S. and Henderson, A. and Hewitt, S. and Hildyard, L. and Hobson, E. and Holden, S. and Holder, M. and Holder, S. and Hollingsworth, G. and Homfray, T. and Humphreys, M. and Hurst, J. and Hutton, B. and Ingram, S. and Irving, M. and Islam, L. and Jackson, A. and Jarvis, J. and Jenkins, L. and Johnson, D. and Jones, E. and Josifova, D. and Joss, S. and Kaemba, B. and Kazembe, S. and Kelsell, R. and Kerr, B. and Kingston, H. and Kini, U. and Kinning, E. and Kirby, G. and Kirk, C. and Kivuva, E. and Kraus, A. and Kumar, D. and Ajith Kumar, V.K. and Lachlan, K. and Lam, W. and Lampe, A. and Langman, C. and Lees, M. and Lim, D. and Longman, C. and Lowther, G. and Lynch, S.A. and Magee, A. and Maher, E. and Male, A. and Mansour, S. and Marks, K. and Martin, K. and Maye, U. and McCann, E. and McConnell, V. and McEntagart, M. and McGowan, R. and McKay, K. and McKee, S. and McMullan, D.J. and McNerlan, S. and McWilliam, C. and Mehta, S. and Metcalfe, K. and Middleton, A. and Miedzybrodzka, Z. and Miles, E. and Mohammed, S. and Montgomery, T. and Moore, D. and Morgan, S. and Morton, J. and Mugalaasi, H. and Murday, V. and Murphy, H. and Naik, S. and Nemeth, A. and Nevitt, L. and Newbury-Ecob, R. and Norman, A. and O'Shea, R. and Ogilvie, C. and Ong, K.-R. and Park, S.-M. and Parker, M.J. and Patel, C. and Paterson, J. and Payne, S. and Perrett, D. and Phipps, J. and Pilz, D.T. and Pollard, M. and Pottinger, C. and Poulton, J. and Pratt, N. and Prescott, K. and Price, S. and Pridham, A. and Procter, A. and Purnell, H. and Quarrell, O. and Ragge, N. and Rahbari, R. and Randall, J. and Rankin, J. and Raymond, L. and Rice, D. and Robert, L. and Roberts, E. and Roberts, J. and Roberts, P. and Roberts, G. and Ro, Prevalence and architecture of de novo mutations in developmental disorders, Nature, 542, (7642), 2017, p433-438Journal Article, 2017, DOI , URL
• Fitzgerald, T.W. and Gerety, S.S. and Jones, W.D. and Van Kogelenberg, M. and King, D.A. and McRae, J. and Morley, K.I. and Parthiban, V. and Al-Turki, S. and Ambridge, K. and Barrett, D.M. and Bayzetinova, T. and Clayton, S. and Coomber, E.L. and Gribble, S. and Jones, P. and Krishnappa, N. and Mason, L.E. and Middleton, A. and Miller, R. and Prigmore, E. and Rajan, D. and Sifrim, A. and Tivey, A.R. and Ahmed, M. and Akawi, N. and Andrews, R. and Anjum, U. and Archer, H. and Armstrong, R. and Balasubramanian, M. and Banerjee, R. and Baralle, D. and Batstone, P. and Baty, D. and Bennett, C. and Berg, J. and Bernhard, B. and Bevan, A.P. and Blair, E. and Blyth, M. and Bohanna, D. and Bourdon, L. and Bourn, D. and Brady, A. and Bragin, E. and Brewer, C. and Brueton, L. and Brunstrom, K. and Bumpstead, S.J. and Bunyan, D.J. and Burn, J. and Burton, J. and Canham, N. and Castle, B. and Chandler, K. and Clasper, S. and Clayton-Smith, J. and Cole, T. and Collins, A. and Collinson, M.N. and Connell, F. and Cooper, N. and Cox, H. and Cresswell, L. and Cross, G. and Crow, Y. and D'Alessandro, M. and Dabir, T. and Davidson, R. and Davies, S. and Dean, J. and Deshpande, C. and Devlin, G. and Dixit, A. and Dominiczak, A. and Donnelly, C. and Donnelly, D. and Douglas, A. and Duncan, A. and Eason, J. and Edkins, S. and Ellard, S. and Ellis, P. and Elmslie, F. and Evans, K. and Everest, S. and Fendick, T. and Fisher, R. and Flinter, F. and Foulds, N. and Fryer, A. and Fu, B. and Gardiner, C. and Gaunt, L. and Ghali, N. and Gibbons, R. and Gomes Pereira, S.L. and Goodship, J. and Goudie, D. and Gray, E. and Greene, P. and Greenhalgh, L. and Harrison, L. and Hawkins, R. and Hellens, S. and Henderson, A. and Hobson, E. and Holden, S. and Holder, S. and Hollingsworth, G. and Homfray, T. and Humphreys, M. and Hurst, J. and Ingram, S. and Irving, M. and Jarvis, J. and Jenkins, L. and Johnson, D. and Jones, D. and Jones, E. and Josifova, D. and Joss, S. and Kaemba, B. and Kazembe, S. and Kerr, B. and Kini, U. and Kinning, E. and Kirby, G. and Kirk, C. and Kivuva, E. and Kraus, A. and Kumar, D. and Lachlan, K. and Lam, W. and Lampe, A. and Langman, C. and Lees, M. and Lim, D. and Lowther, G. and Lynch, S.A. and Magee, A. and Maher, E. and Mansour, S. and Marks, K. and Martin, K. and Maye, U. and McCann, E. and McConnell, V. and McEntagart, M. and McGowan, R. and McKay, K. and McKee, S. and McMullan, D.J. and McNerlan, S. and Mehta, S. and Metcalfe, K. and Miles, E. and Mohammed, S. and Montgomery, T. and Moore, D. and Morgan, S. and Morris, A. and Morton, J. and Mugalaasi, H. and Murday, V. and Nevitt, L. and Newbury-Ecob, R. and Norman, A. and O'Shea, R. and Ogilvie, C. and Park, S. and Parker, M.J. and Patel, C. and Paterson, J. and Payne, S. and Phipps, J. and Pilz, D.T. and Porteous, D. and Pratt, N. and Prescott, K. and Price, S. and Pridham, A. and Procter, A. and Purnell, H. and Ragge, N. and Rankin, J. and Raymond, L. and Rice, D. and Robert, L. and Roberts, E. and Roberts, G. and Roberts, J. and Roberts, P. and Ross, A. and Rosser, E. and Saggar, A. and Samant, S. and Sandford, R. and Sarkar, A. and Schweiger, S. and Scott, C. and Scott, R. and Selby, A. and Seller, A. and Sequeira, C. and Shannon, N. and Sharif, S. and Shaw-Smith, C. and Shearing, E. and Shears, D. and Simonic, I. and Simpkin, D. and Singzon, R. and Skitt, Z. and Smith, A. and Smith, B. and Smith, K. and Smithson, S. and Sneddon, L. and Splitt, M. and Squires, M. and Stewart, F. and Stewart, H. and Suri, M. and Sutton, Large-scale discovery of novel genetic causes of developmental disorders, Nature, 519, (7542), 2015, p223-228Journal Article, 2015, DOI , URL
• O†Shea, R. and Meany, M. and Carroll, C. and Cody, N. and Healy, D. and Green, A. and Lynch, S.A., Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland, Journal of Genetic Counseling, 25, (3), 2016, p422-431Journal Article, 2016, DOI , URL
• 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
• 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 Care & Health Services (including Health Technology and Health Information Systems), Genetics and Genomics,

• 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)