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About MyGenome Australia

Our genetic blueprint holds the key to understanding and optimising our health. At MyGenome Australia, state-of-the-art genomic testing is used to provide insights tailored to each person's specific circumstance and needs that can be reviewed throughout different life stages.

The MGA founder, A/Professor Kathy Wu, is a Human Genetics Society of Australasia (HGSA)-certified Clinical Geneticist with more than 20 years of clinical and research experience in genomics and medicine. Currently, she is a senior staff specialist and the founding Head at St Vincent's Clinical Genomics since 2016. In 2016, she established Clinical Genomics as a highly-integrated clinical service with research, education and training opportunities to provide the first clinical whole genome sequencing (WGS) service in the Southern Hemisphere at the time, guided by bioethics principles.

The Story

Kathy is an adult physician scientist in Clinical Genetics and Genomics, an academic researcher and educator.

Following her graduation from the University of Sydney Medical School (1991-1997), she embarked on a research career alongside Medicine, including Master of Medicine by basic science research, University of Sydney (awarded 2003), Lucy F Falkiner Fellowship at Columbia University, New York (2003), further research at Stanford University, California (2004-2005), which ultimately inspired her to pursue Clinical Genetics after returning to Australia in 2006.

Currently, Kathy is a senior staff specialist at St Vincent’s Public and Private Hospitals and St Vincent’s Clinic. She is a past Council Member of the Royal Australasian College of Physicians (RACP) 2017-2023, and a committee member of the Bioethics Committee of St Vincent’s Hospital 2018-2023, amongst her various other committee roles. Through her affiliations with multiple universities and research institutions, including the UNSW, University of Sydney, University of Notre Dame Australia, Garvan Institute of Medical Research and the George Institute for Global Health, she is committed to teaching, education, and responsible translation of genomics research to inform precision healthcare to improve health outcomes for all Australians. She is passionate about using genomics beyond the traditional role of rare disease diagnosis, to inform disease prevention, personal health optimisation, and risk management.

Kathy is married with three children, plus Cosmo, a Labradoodle; and enjoys music, knitting, nature, reading and audio books.

Select Publications

MGA is proud to contribute to the advancement of medical and genomics research through our published work:

2025

  • Davies K, ..Wu KHC et al. Comprehensive characterisation of the RFC1 repeat in an Australian cohort. Submitted to Cerebellum March 2025.
  • De SousaS,..Wu KHC et al. Australian and New Zealand Joint Society Position Statement on Genetic Testing for Monogenic Diabetes in Adults. Accepted for publication, MJA, 11 March 2025.
  • De Sousa SMC, Phan JMN, Wells A, Wu KHC and Scott HS. Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance. Accepted for publication, Acta Diabetologica, January 2025.

2024

  • Balasingam D, …and Wu KHC. Mainstreaming Genomic Testing for Monogenic Diabetes: Feasibility, Outcome, and Validation Study. Submitted to Diabetes Research and Clinical Practice, December 2024.
  • Rafehi H, ..Wu KHC et al. A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia. Accepted for publication, Genome Research, November 2024.
  • Zochowski Y, Kumar K,...Wu KHC and Tisch S. Case series of cerebellar ataxia with tremor due to STUB1 (SCA 48) without TBP expansions: further evidence for STUB1 as a monogenic disease. Accepted for publication, Cerebellum, November 2024.
  • Wang Y,…Wu KHC et al. Fast and Fragile: An Unseen Danger – A case of left atrial cardiomyopathy proceeding left atrial dissection. Accepted for publication, Heart Rhythm Case Reports, November 2024.
  • Austin R,..and Australian Genomics Cardiovascular Disorders Flagship. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship. Genet in Med Open 2024; 2: 101842.

2023

  • Moxham R, Tjokrowidjaja A, Devery S, Smyth R, McLean A and Wu KHC. Clinical utilities and end-user experience of pharmacogenomics: 39 mo of clinical implementation experience in an Australian hospital setting. World J Med Genet 2023 December 20; 11(4): 39-50.
  • De Sousa SMC, Wu KHC et al. Identification of monogenic diabetes in an Australian cohort using the Exeter maturity‐onset diabetes of the young (MODY) probability calculator and next‐generation sequencing gene panel testing. Published online October 2023. Acta Diabetologica
  • Rafehi H, …Wu KHC,…Bahlo M and Lockhart P. An intronic GAA repeat expansion inFGF14 causes the autosomal dominant adult-onset ataxia SCA50/ATX-FGF14. The American Journal of Human Genetics 2023;110(1):105-119.
  • McLean A, Tchan M, Devery S, Smyth R, Shrestha R, Kumar K, Tomlinson S, Tisch S and Wu KHC. Informing a value care model: Lessons from an integrated adult neurogenomics clinic. Intern Med J 2023;53(12):2198-2207. doi: 10.1111/imj.16103.
  • Krishnan A, Wu KHC et al. A mitochondrial cytopathy presenting with persistent troponin elevation: Case Report. European Heart Journal – Case Reports 2023;7(4):1-6.

2022

  • Moxham R, Viardot A, Greenfield J and Wu KHC. Tip of the iceberg: are we missing undiagnosed patients with Maturity Onset Diabetes of the Young (MODY)? Internal Medicine Journal, 2022 Nov;52(11):2011-2012. https://onlinelibrary.wiley.com/toc/14455994/current
  • Grosz BR,…Wu KHC et al. A novel synonymous KMT2B variant results in aberrant splicing causing dystonia. Molecular Genetics & Genomic Medicine, 2022 May;10(5):e1923.

2021

  • Yap JY, …Wu KHC et al. Intrinsic defects in B cell development and differentiation, T cell exhaustion and altered unconventional T cell generation characterize human adenosine deaminase type 2 deficiency. Journal of Clinical Immunology 2021;41(8):1915-1935.
  • McLean A and Wu KHC. Letter to the Editor on: Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances. MJA 2021;215(8):384 e1.
  • Ferkh A, Whalley D,..Wu KHC et al. Left atrial cardiomyopathy with left atrial thrombus despite sinus rhythm, in a patient with severe ventricular cardiomyopathy requiring cardiac transplantation. Cardiovascular Imaging Case Reports (CASE) 2021;5(4):243-251.
  • Austin R, QuinnMCJ,…Wu KHC et al. Investigation of current models of care for genetic heart disease in Australia: A national clinical audit. International Journal of Cardiology 2021 May 1;330:128-134

2020

  • Kumar KR, Cortese A…Wu KHC et al. RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren’s syndrome. Brain 2020;143(10):e82.
  • Yap JY; Gloss B,..Wu KHC,…and CIRCA Consortium. Everolimus-induced remission of classic Kaposi’s sarcoma secondary to cryptic splicing mediated CTLA4 haploinsufficiency. Journal of Clinical Immunology 2020;40(5):774-779.
  • Hussain I, Jin R, Baum H, Greenfield JR, Devery S, Xing C, Hegele RA, Carranza-Leon BG, Linton MF, Vuitch F, Wu KHC, Agarwal AK, Garg A. A Multisystem Progeroid Syndrome with Lipodystrophy, Cardiomyopathy and Proteinuric Nephropathy due to heterozygous LMNA p.R349W Variant. Journal of the Endocrine Society 2020;4(10):1-17.

2019

  • Dai P, Furlong T, Gracie G, Huang M, Tao Yang T, Wu KHC, Danta D, Wong M, Williams A, March L, Hetherington M, Heyworth-Smith D, Phan T, and CIRCA Consortium. Autoinflammation masquerading as autoimmunity in an adult with heterozygous p.E250K PSTPIP1 mutation. Journal of Clinical Immunology 2019;39:519-522.
  • Libiano R, Wu KHC, Devery S, Eisman J, Center J. KBG Syndrome Presenting with Brachydactyly Type E. Bone 2019;123:18-22
  • Mavaddat N,…..kConFab/AOCS Investigators,….Easton DF. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal of Human Genetics 2019;104(1):21-34

2018 & prior

  • Hollway G,…Wu K, et al.Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases. Human Genomics. 2018;12:23
  • De Sousa SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, MaCormack AI. Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. Eur J Endocrinol. 2017 May;176(5):635-644.
  • Wu KHC and Kirk J. Hereditary colorectal cancer: what you need to know. Medicine Today 2015;16(2):20-29
  • Wu KHC, Kohn MR, Turner A, Sillence DO. A common presentation of a rare genetic disorder clinically mimicking primary myopathy. Adolesc Med State Art Rev. 2012;23(2):393-403
  • Chan A, Blumenkranz MS, Wu KHC, Wang G, Berker N, Parast LM, Sanislo S. Photodynamic therapy with and without adjunctive intravitreal triamcinolone:  A retrospective comparative study. Ophthalmic Surg Lasers Imaging 2009;40(6):561-9.
  • Wu KH, Tan AG, Rochtchina E, Favaloro EJ, Williams A, Mitchell P, Wang JJ. Circulating inflammatory markers and hemostatic factors in age-related maculopathy: a population-based case-control study. Invest Ophthalmol Vis Sci. 2007;48(5):1983-8.
  • Lin RJ, Blumenkranz MS, Binkley J, Wu K, Vollrath D. A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. Am J Ophthalmol. 2006;142(5):839-48.
  • Wu KHC and Marmor MF. Alcohol- and light-induced electro-oculographic responses in age-related macular degeneration & central serous chorioretinopathy. Doc Ophthalmologica 2005;110:237-46.
  • Marmor MF and Wu KHC. Alcohol- and light-induced electro-oculographic responses: variability and clinical utility. Doc Ophthalmologica 2005;110:227-36.
  • Wu KHC, Wang JJ, Rochtchina E, Foran S, Ng MKC and Mitchell P. Angiotensin-converting enzyme inhibitors and age-related maculopathy: Cross-sectional findings from the Blue Mountains Eye Study. Acta Ophthalmologica Scandinavica 2004;82:298-303.
  • Wu KHC, Madigan MC, Billson FA and Penfold PL. Differential expression of GFAP in early vs late AMD: A quantitative analysis. Br J Ophthalmol  2003;87:1159-66.
  • Wu KHC, Penfold PL and Billson FA. Effects of postmortem delay and storage duration on the expression of GFAP in normal human adult retinae. Clin Exp Ophthalmol 2002;30:200-207

     

     

     

Frequently Asked Questions

Every person is unique in their needs, based on their personal/family history. The cost of genomic testing therefore varies depending on the scope of testing. Different options and tiers of testing will be discussed and a joint decision will be made with you in the initial consultation, which can range from a few hundred to a few thousand dollars. If testing proceeds, a follow-up consultation will take place in about 3 months whereby genomic testing reports are discussed with you and detailed management plan is developed tailored to your unique circumstance and requirements. Our friendly staff will discuss the cost of consultations with you before an appointment is scheduled.

There is limited Medicare coverage for certain diagnostic genomic testing (genomic testing undertaken by someone who already exhibits symptoms of a suspected genetic disorder) and limited reproductive carrier screening. The majority of tests included in preventive genomics testing is not covered by either Medicare or private health insurance. Your genomics health professional will discuss this further in the initial consultation.

The doctor’s clinic consultations are claimable through Medicare if there is a valid referral, although the claims are usually capped to certain amounts.

Genomic testing does not impact health insurance. Certain genomic testing may impact risk-based insurance, such as life insurance. Currently, genomic testing for risk prediction undertaken pre-symptomatically (such as in the preventive genomics context), would impact new life insurance policy underwriting up to certain limits based on the current Moratorium in place. This is however rapidly changing, as the Australian government has announced in September 2024 that it will change the law, so that life insurance companies will no longer be able to use genetic/genomic test results to refuse or increase life insurance premiums. This will come into effect when it is written into legislation in the near future. The MGA genetics health professional will provide most up-to-date information in a clinic consultation.

MGA prides in the responsible use of genomics that is evidence-based and tailored to each individual. Through two-way clinical interactions and comprehensive assessment, each client receives the most up-to-date information about genomic testing, appropriate recommendations based on their needs, as well as a comprehensive care plan based on clinical guidelines. There are two-way communications to ensure that all questions and concerns are answered and addressed.

Just as genomics is rapidly evolving, the service and range of testing will also evolve accordingly at MGA to keep abreast with developments in genomic technologies.

A comprehensive clinical assessment is undertaken by certified genetics professionals in a clinic consultation to determine the best testing strategy, which may include a combination of diagnostic and, if wished, preventive, genomic tests. As not every symptom or any positive family history would be related, our experienced geneticist will make a clinical judgement, based on comprehensive assessment, and provide explanations on the recommended tests on the day.

Like any laboratory testing, genomic testing also has limitations. Genomic testing, if performed in an appropriately accredited laboratory, is as accurate as its inherent limitations allow, at the time of testing.

The inherent limitations are due to the dynamic nature of genomic variant interpretation which may change with time, as well as its technical and analytical limitations which may improve over time. As a result, there may be a small chance that a genetic cause/risk or reproductive risk was not identified at the time of testing. As scientists continue to discover new genes and as variant interpretation changes with increasing genetic knowledge, your genome can be re-analysed from time to time with improved accuracy.

Get started today

Our DNA holds the key to our current and future health, with potential implications passing through generations. Book a consultation with MyGenome Australia and find out how the power of genomics can be harnessed to optimise our health.

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