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A/PROF SYLVIA METCALFE



Contact Details

Organization: Paediatrics Royal Children's Hospital
Position: ASSOCIATE PROFESSOR
Email:
Work: 03 8341 6309
Mobile: 0402 623 278
Fax: 03 8341 6212
Room: W1043
Level: 10
Building: Main Block
Campus: Royal Childrens Hospital

Research Expertise and International Linkages

Research Expertise

Research Interest Country of Expertise
medical genetics, medical genetics education, population genetic screening, genetic counselling Australia

International Linkages

Country Establishment Collaboration
United Kingdom The University of Manchester Teaching

Qualifications, Honours, Fellowships and Other Awards

Qualifications

Title Institution Date Awarded Abbreviation
Bachelor of Science (honours) University of Surrey 31-Dec-1977
Doctor of Philosophy University of Surrey 31-Dec-1981

Government Research Classifications

Research Fields, Courses and Discipline Classifications

Socio-Economic Objective Classifications

Publications

Publications produced at the University of Melbourne and reported in the Annual Publications Collection and 'Research Report' since 2001. The Themis Publications module, released in November 2006, allows additional publications from previous institutions and publications from past years to be entered.

Publications in 2008

Journal Articles

  • A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study
    Year: 2008
    Journal: Genetics in Medicine
    Volume: 10
    Issue: 7
    Page numbers: 525-535
    Author(s):
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  • Impact of a genetic diagnosis of a mitochondrial disorder 5 -17 years after the death of an affected child
    Year: 2008
    Journal: Journal of Genetic Counseling
    Volume: 17
    Issue: 3
    Page numbers: 261-273
    Author(s):
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  • The importance of program evaluation: how can it be applied to diverse genetics education settings?
    Year: 2008
    Journal: Journal of Genetic Counseling
    Volume: 17
    Issue: 2
    Page numbers: 170-179
    Author(s):
    URL - open access http://www.ncbi.nlm.nih.gov/pubmed/18247108
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  • The missing element: consanguinity as a component of genetic risk assessment
    Year: 2008
    Journal: Genetics in Medicine
    Volume: 10
    Issue: 8
    Page numbers: 612-620
    Author(s):
    URL - open access http://www.ncbi.nlm.nih.gov/pubmed/18641519
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  • Use of a decision aid for prenatal testing of fetal abnormalities to improve women’s informed decision making: a cluster randomised controlled trial
    Year: 2008
    Journal: BJOG
    Volume: 115
    Issue: 3
    Page numbers: 339-347
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Publications in 2007

Books

  • Genetics in Family Medicine:  The Australian Handbook for General Practitioners
    Year: 2007
    Publisher: Commonwealth of Australia(Canberra)
    Authors(s):

Journal Articles

  • Genetics and blood


    Year: 2007
    Journal: Australian Family Physician
    Volume: 36
    Issue: 10
    Page numbers: 812-819
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  • Genetics and preventative healthcare


    Year: 2007
    Journal: Australian Family Physician
    Volume: 36
    Issue: 10
    Page numbers: 808-811
    Author(s):
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  • Genetics and preventative healthcare


    Year: 2007
    Journal: Australian Family Physician
    Volume: 36
    Issue: 10
    Page numbers: 802-805
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  • A model for the development of genetics education programs for health professionals
    Year: 2007
    Journal: Genetics in Medicine
    Volume: 9
    Issue: 7
    Page numbers: 451-457
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  • Auditing the use of genetics educational technologies in Australian secondary schools
    Year: 2007
    Journal: Teaching Science
    Volume: 53
    Issue: 4
    Page numbers: 36-40
    Author(s):
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  • Population genetic screening
    Year: 2007
    Journal: Australian Family Physician
    Volume: 36
    Issue: 10
    Page numbers: 794-800
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Publications in 2006

Journal Articles

  • Educational outcomes of a workplace screening program for a genetic susceptibility to hemochromatosis
    Year: 2006
    Journal: Clinical Genetics
    Volume: 69
    Page numbers: 163-170
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  • Evaluation of a decision aid for prenatal testing of fetal abnormalities: a cluster randomised trial [ISRCTN22532458]
    Year: 2006
    Journal: BMC Public Health
    Volume: 6
    Issue: 96
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  • It's 'back to school' for genetic screening
    Year: 2006
    Journal: European Journal of Human Genetics
    Volume: 14
    Page numbers: 384-389
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Publications in 2005

Journal Articles

  • A long-term outcome study of intersex conditions.
    Year: 2005
    Journal: Journal of Pediatric Endocrinology and Metabolism
    Volume: 18
    Issue: 6
    Page numbers: 555-567
    Publisher: Freund Publishing House
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  • Educating general practitioners about prenatal testing: Approaches and challenges
    Year: 2005
    Journal: Prenatal Diagnosis
    Volume: 25
    Issue: 7
    Page numbers: 592-601
    Publisher: Wiley Europe
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  • Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis
    Year: 2005
    Journal: Clinical Genetics
    Volume: 67
    Page numbers: 166-174
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  • Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling
    Year: 2005
    Journal: Genetics in Medicine
    Volume: 7
    Issue: 9
    Page numbers: 626-632
    Publisher: Lippincott Williams & Wilkins
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  • Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis
    Year: 2005
    Journal: The Lancet
    Volume: 366
    Issue: 314-316
    Page numbers: 9482
    Publisher: Lancet(London)
    Author(s):
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Publications in 2004

Journal Articles

  • Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.
    Year: 2004
    Journal: Clinical Genetics
    Volume: 65
    Issue: 5
    Page numbers: 358-367
    Publisher: Munksgaard International Publishers(Copenhagen)
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  • Integrating Genetics as Practices of Primary Care
    Year: 2004
    Journal: Social Science & Medicine
    Volume: 59
    Page numbers: 223-233
    Publisher: Pergamon-Elsevier Science(Oxford)
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  • Multimedia messages in genetics: design, development and evaluation of a computer based instructional resource for secondary students in a Tay Sachs disease carrier program
    Year: 2004
    Journal: Genetics in Medicine
    Volume: 6
    Issue: 4
    Page numbers: 226-231
    Publisher: Lippincott Williams & Wilkins
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Computer Software Products

Audio Visual Recordings

    Publications in 2003

    Journal Articles

    • Evaluation of a Tay-Sachs Disease screening program.
      Year: 2003
      Journal: Clinical Genetics
      Volume: 63
      Issue: 5
      Page numbers: 386-392
      Publisher: Munksgaard International Publishers(Copenhagen)
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    • Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature
      Year: 2003
      Journal: American Journal of Medical Genetics
      Volume: 122A
      Page numbers: 100-107
      Publisher: Wiley-Liss(New York)
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    • Rules for clinical diagnosis in babies with ambiguous genitalia.
      Year: 2003
      Journal: Journal of Paediatrics and Child Health
      Volume: 39
      Issue: 6
      Page numbers: 406-413
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    Publications in 2002

    Journal Articles

    • Needs assesment study of genetics education for general practioners in Australia
      Year: 2002
      Journal: Genetics in Medicine
      Volume: 4
      Issue: 2
      Page numbers: 71-77
      Publisher: Lippincott Williams & Wilkins
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    Computer Software Products

    • Medical GenetiX. Clinical and Molecular Aspects of Human Genetic Disorders
      Year: 2002
      Version:: 1
      Publisher: Biomedical Multimedia Unit, The University of Melbourne(Melbourne)
      Place: ,
      Author(s):

    Audio Visual Recordings

      Publications in 2001

      Journal Articles

      • Getting the gene into general practice
        Year: 2001
        Journal: Australian Family Physician
        Volume: 30
        Issue: 10
        Page numbers: 927
        Publisher: Royal Australian College of General Practitioners
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