Public Health Genetics

The Public Health Genetics group researches the monitoring and evaluation of current and emerging genetic technologies, particularly related to prenatal diagnosis and population screening for genetic disorders. It also studies the use and communication of genetic information in families. A third area of investigation is the integration of genetic, epigenetic, environmental and socio-demographic factors in prenatal exposures such as assisted reproductive technologies (ART) or alcohol, and the impact this has on the health and wellbeing of infants, children and young adults.

Researchers are skilled in epidemiology, health services research and the science of genetics, as well as genetic counselling. Using these approaches, the team applies a detailed knowledge of genetics and genomics to the research and undertakes collaborative projects in many areas. Having monitored prenatal diagnostic testing in Victoria for 30 years, the group has published research that has informed service provision and policy, and provided relevant, accurate information to the community. Most recently, the team published world-first findings on the health of young adults conceived by ART, demonstrating an overall safety of the procedures. In another major study, researchers are examining the health and wellbeing of children exposed to low to moderate levels of alcohol in pregnancy using novel, early markers of development, while taking into account maternal and infant genetics and epigenetics as well as lifestyle and other health-related determinants of child development. 

Group Leaders: 
Group Members: 
Joanne Kennedy
Role: 
Research Assistant
Taryn Charles
Role: 
Research Assistant
Michelle Livock
Role: 
PhD Student
Dr Lisa Hui
Role: 
Research Fellow
Dr Briohny Hutchinson
Role: 
Research Fellow

AQUA - Alcohol Use in Pregnancy: what questions should we be asking?
This four-year project funded by the National Health and Medical Research Council aims to compare possible effects of low or moderate alcohol consumption during pregnancy with not drinking any alcohol at all. The study has recruited 1,571 participants who have completed a questionnaire in each trimester of pregnancy, including a specifically developed and tested set of questions on alcohol intake. Participants will complete a questionnaire when their baby is one year old, and again when the child turns two, focused on the health and development of their child. Many participants have also provided biological samples. A large sample of participants were invited to have 3D photographs taken of their baby's face and head at 12 months, and are now being given a developmental assessment at two years of age. The analysis will include key covariates to help explain a potential association between prenatal alcohol exposure and selected outcomes for the child. See www.mcri.edu.au/aquastudy for more information.

CHART Study - Clinical review of the Health of 22-33 year olds conceived using Assisted Reproductive Technologies
A large number of young adults have been conceived via assisted reproductive technologies (ART). The use of these technologies continues to increase. There is a widely-held belief that common adult onset disorders (particularly cardiovascular and respiratory diseases) begin in early life, possibly even before birth. Children born following the use of ART might be in a specific risk category because of the techniques used to enable successful ART pregnancies. This project aims to investigate the heart and lung health of young adults aged 21 to 31 years, who were conceived using ART in Victoria. The results will be compared to other young adults who were conceived naturally. By examining these young adults the researchers will address a shortfall in our knowledge of the long-term health implications of ART and generate information that may have widespread biological and clinical implications. See www.mcri.edu.au/research/projects/clinical-review-health-young-adults-conceived-following-art-chart for more information.

GaP Study – Genomics and Pregnancy
The aim of the GaP study is to provide those having prenatal diagnostic testing with a choice about the amount and type of genetic information they receive from their prenatal test about their unborn baby. The current practice does not provide parents with such a choice. There are people who like to have all the information they can about their pregnancy, even if this information is uncertain. For other people, such uncertainty is difficult to deal with, and they would rather not know. The GaP study is about letting pregnant women and partners choose how much information to receive. The options are ‘targeted’, where only the information that will affect health is provided, or ‘extended’, where all information, even the uncertain aspects, is provided.

Uses of Prenatal Diagnostic Testing
The aim of this project is to keep an updated record of information related to prenatal diagnostic tests done in Victoria. Each year, all four cytogenetics Victorian labs provide data about prenatal diagnostic testing. Information includes, but is not limited to, the clinical indications for testing (e.g., first trimester combined screening, ultrasound abnormality), the procedures used to collect fetal DNA (e.g., CVS or amniocentesis), the technologies used to analyse that sample (i.e., karyotype or microarray) and the test outcomes. These data are collated and analysed in order to produce a yearly report. The results of this project help inform policy and future test development, as well as provide new insights that will assist with pre-test counselling.