research

genetics education & health research

summary

Our group conducts research that explores and evaluates the provision and impact of genetic services and technologies. Our aim is to promote understanding of genetics, and inform evidence based practice, among health professionals and the community.

group leader(s)

Sylvia Metcalfe

  A/Professor Sylvia Metcalfe
  Genetics Education & Health Research
  Murdoch Childrens Research Institute
  Royal Children's Hospital
  Flemington Road
  Parkville Victoria 3052
  Australia

  T   +61 3 8341 6298
  F   +61 3 8341 6212
  E   sylvia.metcalfe@mcri.edu.au

group leader biography

current research projects

Project 1: FaXeS study: offering fragile X syndrome carrier testing to women: comparing prenatal and preconception screening

Fragile X syndrome (FXS) is the most common known cause of inherited intellectual disability. Up to one in 150 women are carriers. This NHMRC funded study (www.fragilexscreening.net.au) is investigating factors that influence a woman's decision about whether or not to accept the offer of a genetic carrier test for FXS. The study is being conducted through selected primary care and obstetrics clinics in Melbourne and Perth and carrier screening will be offered to women in the general population who are not pregnant or less than 12 weeks pregnant. This study is also supported by the Apex Foundation, the Helen Macpherson-Smith Trust and the Shepherd Foundation.

Project 2: GIF study: communicating genetic information in families - a randomised controlled trial of a genetic counselling intervention

Diagnosis of a new genetic condition has implications for other family members, but evidence suggests that communication of genetic information in families may be problematic. This NHMRC funded study aims to evaluate a genetic counselling intervention using a randomised controlled trial study design. The intervention is designed to assist families to appropriately facilitate communication. Recruitment is taking place through a number of clinical genetics clinics in Victoria. Outcomes measured will include relatives' subsequent contact with genetic services as well as exploring processes of family communication.

Project 3: GIPC study: genetics in primary care

Rapid development in genetic technologies is predicted to change practice in all specialties of medicine, including primary care. Genetic information is complex, understanding risk can be difficult, and many conditions have significant implications for individuals and their relatives. Even when supported through education and provision of relevant resources, other factors such as time constraints may limit GPs' ability to manage the practice of genetic medicine. We are exploring the acceptability and feasibility of integrating genetic counselling services into primary care. Findings will inform the development and evaluation of complex intervention models to deliver genetic services in primary care.

Project 4: PIPS study: psychosocial impacts in prenatal settings

Healthcare professionals working in prenatal settings are often involved in the diagnosis and/or counselling of patients at risk of a fetal anomaly in pregnancy. This potentially raises ethical, moral and legal issues for healthcare professionals involved, and could lead to feelings of stress and/or 'burnout'. The aim of this study is to explore the experiences of healthcare professionals who work with fetal anomaly and to identify any support systems used/needed. Qualitative interviews are being conducted with medical practitioners (maternal fetal medicine specialists, clinical geneticists, neonatologists etc.) and allied health staff (genetic counsellors, midwives, sonographers etc.). Findings indicate that working with fetal anomaly has a substantial impact on healthcare professionals. This study will inform training and support for healthcare professionals in the fetal anomaly setting. (This study has been funded by the Shepherd Foundation).

team members

  • Mark Adams - Administrative Assistant
  • Alice Ames - PhD Student (UoM Paeds)
  • Alison Archibald - Research Officer
  • Hannah Brown - Honours Student (UoM Paeds)
  • Jonathan Cohen - Honorary Research Fellow
  • Chriselle Hickerton - Research Assistant
  • Jan Hodgson - Project Manager
  • Sally Lawton - PROJECT ASSISTANT
  • Melissa Martyn - Research Officer
  • Belinda Mcclaren - Research Officer
  • Melody Menezes - Research Officer
  • Jean Paul - PhD UoM
  • Loren Plunkett - Research Assistant
  • Erin Turbitt - PhD Student (UoM Paeds)
  • Alice Weeks - Research Assistant

publications

  • Forrest L., Delatycki M., Curnow L., Skene L., Aitken M. An audit of clinical service examining the uptake of genetic testing by at-risk family members. Genetics in medicine : official journal of the American College of Medical Genetics 14 (1) : 122 - 8(2012) PubMed
  • Hickerton CL., Aitken M., Hodgson J., Delatycki MB. "Did you find that out in time?": New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011) PubMed
  • Hodgson J., Weil J. Commentary: How Individual and Profession-level Factors Influence Discussion of Disability in Prenatal Genetic Counseling. Journal of Genetic Counseling (2011) PubMed
  • Hodgson J., Weil J. Talking about Disability in Prenatal Genetic Counseling: A Report of Two Interactive Workshops. Journal of Genetic Counseling (2011) PubMed
  • McClaren BJ., Metcalfe SA., Amor DJ., Aitken M., Massie J. A case for cystic fibrosis carrier testing in the general population. MEDICAL JOURNAL OF AUSTRALIA 194 (4) : 208 - 209(2011) PubMed
  • Menezes MA. Commentary on "Life as a Pregnant Genetic Counselor: Take Two". Journal of Genetic Counseling (2011) PubMed
  • Metcalfe SA. Carrier screening in preconception consultation in primary care. Journal of Community Genetics (2011) PubMed
  • Ohnesorg T., Turbitt E., White SJ. The many faces of MLPA. Methods in Molecular Biology 687 : 193 - 205(2011) PubMed
  • White S., Hewitt J., Turbitt E., van der Zwan Y., Hersmus R., Drop S., Koopman P., Harley V., Cools M., Looijenga L., Sinclair A. A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development. EUROPEAN JOURNAL OF HUMAN GENETICS (2011) PubMed
  • White S., Ohnesorg T., Notini A., Roeszler K., Hewitt J., Daggag H., Smith C., Turbitt E., Gustin S., van den Bergen J., Miles D., Western P., Arboleda V., Schumacher V., Gordon L., Bell K., Bengtsson H., Speed T., Hutson J., Warne G., Harley V., Koopman P., Vilain E., Sinclair A. Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis. PLOS ONE 6 (3) (2011) PubMed
  • White SM., Hodgson J. Drawing attention to difference: Dilemmas in discussing dysmorphism with parents. JOURNAL OF PAEDIATRICS AND CHILD HEALTH 47 (11) : 763 - 765(2011)

competitive funding

Apex Foundation
The Helen Macpherson-Smith Trust
The Shepherd Foundation