Developing resources for people considering reproductive genetic carrier screening (RGCS) in Australia

Project status: Active

Research area: Genomic Medicine > Genomics in Society

We’re researching what people need to decide if genetic carrier screening is right for them and creating publicly accessible resources for anyone considering this in Australia.

Why this study is important

Medicare-funded genetic carrier screening, also known as reproductive genetic carrier screening (RGCS), is available in Australia for people who want to find out if they have an increased chance of having children with genetic conditions.

To make informed decisions about whether to have this screening, people need balanced, accurate, and up-to-date information. This information should be presented in a way that is relatable and easy to understand, so individuals can make choices that align with their personal values and preferences.

Our study focus

This study explores what people need to help them decide whether RGCS is right for them, and what types of resources would support that decision-making process.

We are inviting people to take part in:

A focus group or individual interview to share their thoughts on what information is helpful when considering genetic screening before or during pregnancy.
A follow-up individual interview to provide feedback on a resource developed using insights from the first stage.

Participants can choose to take part in either or both parts of the study.

Your input will help improve the information and resources available to others who may consider screening in the future.

Information for participants

You can participate if you:

Are aged 18 to 50 years of age
Live in Australia

You don’t need to have a medical or scientific background or any prior knowledge of genetic screening.

We welcome people of all genders, whether you are partnered or not, a parent or not, and from any background or experience.

Interested in participating?

If you’d like to be involved, please complete the expression of interest form below.

Expression of interest

Collaborations

This study is being conducted in collaboration with a team at Macquarie University, funded by the Australian Government MRFF, Genomic Health Futures Mission (MRF2025125, CIA Braithwaite).

It has been approved by the Royal Children’s Hospital Human Research Ethics Committee (HREC number: HREC/112451/RCHM-2025-477507).