Has subject area
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For 2008 6 Digit Code
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Seo 2008 6 Digit Code
PROF Sylvia METCALFE
Positions
- Academic, Paediatrics Royal Children's Hospital
- Medical genetics, medical genetics education, population genetic screening, genetic counselling
Overview
Publications
Selected publications
2012
Journal Articles Refereed
- An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. Nature Genetics. 20:825-830. 2012
- Carrier screening in preconception consultation in primary care. Journal of Community Genetics. 3:193-203. 2012
- ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible. European Journal of Human Genetics. 20:505-509. 2012
Journal Articles Unrefereed Letters or Notes
- Fragile X population carrier screening. Genetics in Medicine. 14:350-350. 2012
2011
Journal Articles Refereed
- A case for cystic fibrosis carrier testing in the general population. Medical Journal of Australia. 194:208-209. 2011
2010
Research Book Chapters
- Concepts in genetic healthcare. Family communication about genetics: theory and practice. Oxford University Press. 18-33. 2010
- Quality issues in clinical genetic services in Australia. Quality issues in clinical genetic services. Springer Science+Business Media. 91-101. 2010
Journal Articles Refereed
- “Testing Times, Challenging Choices”: An Australian Study of Prenatal Genetic Counseling. Journal of Genetic Counseling. 19:22-37. 2010
- "It's Challenging on a Personal Level" - Exploring the 'Lived Experience' of Australian and Canadian Prenatal Genetic Counselors. Journal of Genetic Counseling. 19:640-652. 2010
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Development of a questionnaire for evaluating genetics education in general
. Journal of Community Genetics. 1:175-183. 2010
practice - A systematic review of population screening for fragile X syndrome. Genetics in Medicine. 12:396-410. 2010
- Carrier screening for beta-thalassaemia: a review of international practice.. European Journal of Human Genetics. 18:1077-1083. 2010
- Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools. Clinical Genetics. 77:241-248. 2010
- Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening. European Journal of Human Genetics. 18:1084-1089. 2010
2009
Journal Articles Refereed
- “It’s Something I Need To Consider”: Decisions About Carrier Screening for Fragile X Syndrome in a Population of Non-Pregnant Women. American Journal of Medical Genetics. Part A. 149A:2731-2738. 2009
Other Refereed Contribution to Refereed Journals
- Australia: Public Health Genomics. Public Health Genomics. 12:121-128. 2009
- There's cancer in the family. Australian Family Physician. 38:194-198. 2009
2008
Journal Articles Refereed
- A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genetics in Medicine. 10:525-535. 2008
- Impact of a genetic diagnosis of a mitochondrial disorder 5 -17 years after the death of an affected child. Journal of Genetic Counseling. 17:261-273. 2008
- The importance of program evaluation: how can it be applied to diverse genetics education settings?. Journal of Genetic Counseling. 17:170-179. 2008
- The missing element: consanguinity as a component of genetic risk assessment. Genetics in Medicine. 10:612-620. 2008
- Use of a decision aid for prenatal testing of fetal abnormalities to improve women’s informed decision making: a cluster randomised controlled trial. BJOG. 115:339-347. 2008
Other Refereed Contribution to Refereed Journals
- Disclosing genetic research results after death of pediatric patients. JAMA - Journal of the American Medical Association. 300:1693-1695. 2008
2007
Authored Books Other
- Genetics in Family Medicine: The Australian Handbook for General Practitioners. Commonwealth of Australia. 2007
Journal Articles Refereed
- A model for the development of genetics education programs for health professionals. Genetics in Medicine. 9:451-457. 2007
- Auditing the use of genetics educational technologies in Australian secondary schools. Teaching Science. 53:36-40. 2007
Journal Articles Unrefereed
- Genetic health and families. Australian Family Physician. 36:802-805. 2007
- Genetics and blood. Australian Family Physician. 36:812-819. 2007
- Genetics and preventative healthcare. Australian Family Physician. 36:808-811. 2007
- Population genetic screening. Australian Family Physician. 36:794-800. 2007
2006
Journal Articles Refereed
- Educational outcomes of a workplace screening program for a genetic susceptibility to hemochromatosis. Clinical Genetics. 69:163-170. 2006
- Evaluation of a decision aid for prenatal testing of fetal abnormalities: a cluster randomised trial ISRCTN22532458. BMC Public Health. 6. 2006
- It's 'back to school' for genetic screening. European Journal of Human Genetics. 14:384-389. 2006
2005
Journal Articles Refereed
- A long-term outcome study of intersex conditions.. Journal of Pediatric Endocrinology and Metabolism. 18:555-567. 2005
- Educating general practitioners about prenatal testing: Approaches and challenges. Prenatal Diagnosis. 25:592-601. 2005
- Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis. Clinical Genetics. 67:166-174. 2005
- Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling. Genetics in Medicine. 7:626-632. 2005
- Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. The Lancet. 366:9482-9482. 2005
2004
Journal Articles Refereed
- Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.. Clinical Genetics. 65:358-367. 2004
- Integrating Genetics as Practices of Primary Care. Social Science & Medicine. 59:223-233. 2004
- Multimedia messages in genetics: design, development and evaluation of a computer based instructional resource for secondary students in a Tay Sachs disease carrier program. Genetics in Medicine. 6:226-231. 2004
Computer Software Products
2003
Journal Articles Refereed
- Evaluation of a Tay-Sachs Disease screening program.. Clinical Genetics. 63:386-392. 2003
- Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature. American Journal of Medical Genetics. 122A:100-107. 2003
- Rules for clinical diagnosis in babies with ambiguous genitalia.. Journal of Paediatrics and Child Health. 39:406-413. 2003
2002
Journal Articles Refereed
- Needs assesment study of genetics education for general practioners in Australia. Genetics in Medicine. 4:71-77. 2002
Computer Software Products
2001
Journal Articles Unrefereed Letters or Notes
- Getting the gene into general practice. Australian Family Physician. 30:927-927. 2001
Research
Investigator on
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Contract
- ARE NEUROBEHAVIOURAL AND NEUROMOTOR IMPAIRMENTS ASSOCIATED WITH FMR1 GENE EXPANSION? (Discovery Projects) awarded by MONASH UNIVERSITY 2011 - 2013
Awards
Education and training
- PhD, University of Surrey 1981
- BSc(Hons), University of Surrey 1977
Linkages
International Linkage
- The University of Manchester (Teaching)
Supervision
Available for supervision
- Y
- Contact Details
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sylviaam@unimelb.edu.au
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03 8341 6309
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fax: 03 8341 6212
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Location
- Level: 05 Room: 5 West, Main Block
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- Graduate Study
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