Perinatal Genomics Research Program

Advances in genomic prenatal testing

At Mercy Perinatal, we are committed to harnessing the power of genomics to transform pregnancy care and improve outcomes for families. Our research program in perinatal genomics integrates cutting-edge science, clinical expertise and consumer partnerships to ensure that advances in genomic medicine benefit all Australians.

Our vision is that every family, regardless of background or postcode, can access accurate, timely and compassionate genomic care in pregnancy. 

Equity and Access

Prof Lisa Hui leads the ImpACT-PG project, a $1 million Medical Research Futures Fund initiative that addresses barriers to perinatal genomics for culturally and linguistically diverse (CALD) populations. Through community-driven research, we are co-designing culturally safe communication strategies, while examining the ethical and policy implications of inequities in access to genomic screening. 

Clinical Outcomes and Counselling

Our team has established several world-first cohort studies to provide families with the evidence they need for informed reproductive decision-making:

• The Prenatal Microarray Cohort Study – this NHMRC-funded cohort study is assessing developmental outcomes in children with prenatally diagnosed genomic copy number variants, including variants of uncertain significance, showing reassuring results for families
• The HOPSCOTCH Study – following children with sex chromosome aneuploidies to better understand long-term outcomes and provide accurate counselling in the era of expanded NIPT
• Annual reports from the Victorian Prenatal Diagnosis Database produced by Prof Hui’s group at the Murdoch Children’s Research Institute continue to inform clinicians, policymakers and families about trends in prenatal testing and diagnosis

Genomic Technologies in Practice

We are at the forefront of evaluating fetal exome sequencing for pregnancies affected by fetal anomalies. Our statewide studies have demonstrated that publicly funded perinatal exome sequencing, delivered through multidisciplinary teams, provides high diagnostic yield and genuine clinical utility, while our qualitative work explores the experiences of clinicians and families navigating this technology.

We have also evaluated the experience of couples accessing preimplantation genetic testing for monogenic conditions, providing up-to-date data on the clinical outcomes of PGT-M and IVF pregnancies, and the lived experience of couples considering the option of PGT-M.

Prof Hui is a chief investigator on the mitoHOPE (Healthy Outcomes Pilot and Evaluation) Program, which is piloting the introduction of mitochondrial donation into Australian clinical practice. Australia is only the second country in the world to have access to this technology, which will give parents the option to have biologically related children without passing on genetic conditions with serious impacts on quality of health and life expectancy.

Policy and System Impact

Our work on prenatal screening utilisation has highlighted socioeconomic and demographic disparities in uptake, providing the first population-based evidence to guide equitable policy. We also examine the ethical issues involved in prenatal testing and create consumer and clinician education resources to support informed decision making. We contribute to national and international guidelines in prenatal screening and diagnosis, providing advice to government and policymakers.

Our supporters

We gratefully acknowledge the support of our funders for this research, including the NHMRC, the MRFF Genomic Health Futures Mission, the Australian Research Council, the Murdoch Children's Research Institute, the Norman Beischer Medical Research Foundation, the University of Melbourne, and Mercy Health.

Related researchers

• Dr Melvin Marzan (Perinatal Epidemiologist and Biostatistician)
• Cecilia Pynaker (PhD Student)
• Alice Poulton (PhD Student, Genetic Counsellor)
• Melissa Graetz (Genetics Manager)
• Prof David Amor (Clinical Geneticist)
• Dr Lilian Downie (Clinical Geneticist)
• Prof Sue Walker (Maternal Fetal Medicine)

Research collaborators

• Reproductive Epidemiology group, Genomic Medicine theme, Murdoch Children’s Research Institute
• Monash Bioethics Centre, Monash University
• Multicultural Centre for Women’s Health