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Professor Sylvia Metcalfe
Professor Sylvia Metcalfe obtained a BSc (Hons) and a PhD in biochemistry from the UK and has undertaken biomedical laboratory-based research in London, New York and Melbourne in a number of different research areas. Since 1997 her research interests have moved away from the laboratory and now include the understanding of genetics by health professionals and the community, especially in terms of the social and personal implications of genetic technologies, genetic screening and testing, and the impact of genetic diagnosis. She teaches human genetics to a range of undergraduate and postgraduate students at the University of Melbourne, and provides continuing professional development nationally and internationally. Professor Metcalfe has produced a wide range of multimedia, print and online educational resources including Genetics in Family Medicine: The Australian Handbook for General Practitioners. She supervises and mentors higher degree students and early career researchers. Professor Metcalfe has roles on various Murdoch Childrens and University of Melbourne committees and national and international professional societies. She is also Associate Editor of The Journal of Community Genetics and co-founder of the International Genetics Education Network.
- Professor in Medical Genetics, Department of Paediatrics, The University of Melbourne
As technological advances in genomics have progressed, the ability for individuals to have their entire genetic makeup – their genome – tested and even fully sequenced, has become a reality. This information is valuable in understanding the genetic basis of disease and is becoming a routine part of clinical care for individuals and families with genetic conditions. Genomic testing has also become available for traits and characteristics that are not associated with disease. Access to such testing is even possible through the internet.
Professor Sylvia Metcalfe's main research explores the social implications of genetics and genomics to inform the education of health professionals and the community as a whole.
Her current research covers three main areas: (1) understanding and decision-making about genetic testing, including population-based screening and personal genomic testing; (2) investigating current and future education and training needs of the Australian workforce in genomic medicine; (3) experiences of diagnosis of genetic conditions, including during the prenatal period, and experiences of families living with genetic conditions.
Professor Metcalfe's research uses a combination of approaches including qualitative - interviews and focus groups - and quantitative, involving surveys and audits. She directs observational studies and randomised controlled trials which involve a combination of these research methods.
- Australians' expectations of personal genomics
- Investigating current and future education and training needs of the Australian worksforce in genomic medicine
- Prenatal testing: a longitudinal study - the PeTALS project
Lawton S, Hickerton C, Archibald AD, McClaren BJ* and Metcalfe SA*. A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy. Accepted Eur J Hum Genet, June 2014. *Co-senior authors
Turbitt E, Halliday J, Amor D and Metcalfe S. Comparing opinions of parents, paediatricians and genetic health professionals about genomic results of uncertain clinical significance. Clinical Genetics, Epub ahead of print, 29 April 2014. doi: 10.1111/cge.12398.
Hodgson JM, Metcalfe SA, Aitken MA, Donath SM, Gaff CL, Winship IM, Delatycki MB, Skene LLC, McClaren BJ, Paul JL and Halliday JL. Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention. BMC Medical Genetics, 15:33, 14 March 2014, doi:10.1186/1471-2350-15-33
Cousens N, Gaff CL, Delatycki MB and Metcalfe SA. Prenatal ß-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice. Prenatal Diagnosis, 34: 1-5, 2014, Epub ahead of print December 12, 2013. doi: 10.1002/pd.4297. PMID: 24338659
Menezes MA, Hodgson J, Sahhar M, Aitken MA, Metcalfe SA. 'Taking its toll': The challenges of working in fetal medicine. Birth: issues in Perinatal Care, 40 (1st March): 52-60, 2013.
McClaren BJ, Aitken MA, Massie J, Amor D, Ukoumunne OC and Metcalfe SA. Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing. Genet Med, 15(7):533-40, 2013. Epub ahead of print 24 Jan 2013 doi: 10.1038/gim.2012.175. PMID: 23348769
Archibald AD, Hickerton CL, Jaques AM, Wake S, Cohen J and Metcalfe SA. “It's about having the choice": stakeholder views about population-based genetic carrier screening for fragile X syndrome. Am J Med Genet A, 161A:48–58, 2013. Epub ahead of print 13 Dec 2012 DOI 10.1002/ajmg.a.35674. PMID: 23239566
Brett GR, Metcalfe SA, Amor DJ and Halliday JL. An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. Eur J Hum Genet, 20(8):825-30, 2012. Epub ahead of print 8 Feb 2012 doi: 10.1038/ejhg.2012.13. PMID: 22317975
Delatycki MB, Wolthuizen M, Collins V, Varley E, Craven J, Allen KJ, Gurrin LG, Aitken MA, Trembath MK, Bond L, Wilson GR, Stephenson SEM, Macciocca I, Hickerton C, Lockhart PJ, Metcalfe SA. IronXS: High school screening for hereditary haemochromatosis is acceptable and feasible. Eur J Hum Genet, 20(5):505-9, 2012 Epub ahead of print January 11, 2012; doi:10.1038/ejhg.2011.247. PMID: 22234159
Hill MK,Archibald AD, Cohen J, Metcalfe SA. A systematic review of population screening for fragile X syndrome. Epub ahead of print, 11 June 2010 doi: 10.1097 Genet Med 12:396-410, 2010. DOI: 10.1097/GIM.0b013e3181e38fb6. PMID: 20548240