Research Projects

Do you want to contribute to research?

SWAN is sometimes approached by clinicians, researchers, PhD students, Masters of Genetic Counselling students, and psychology students who are seeking participants for their research projects. Research opportunities are shared in our newsletter and you can find the details to more information on current research projects below.

SWAN also does its own research. Last year we created a survey on the use and storage of genetic/genomic data and Heather presented our findings at the HGSA conference in November. Please click here to access our summary: Exploring SWAN Parents’ Perceptions of Genomic Data.

We have also collaborated with universities on several studies about the diagnostic journey for parents, gaps in government funding for SWAN families and respectful communication. We look forward to sharing the results of these studies soon. 

If you have some ideas and would like to collaborate with SWAN on research, please email us at

Research Fee Update 2024

If you would like SWAN to help recruit participants for your research study, we will be charging a $100 fee in 2024 to cover administration prices. We will waive this fee for PhD and masters students. Thanks for your understanding and we look forward to supporting your research.

Investigating parents’ service experiences of genomic testing to improve care

Has your child had genomic testing for a rare genetic condition (excluding cancer) as an outpatient in the last 5 years? If so, we want to hear from you!

Your views will help us to develop a tool to help capture parents’ experiences of genomic testing in routine care. Understanding these experiences can help improve the way services are provided.

What will I be asked to do in this study?

·       Fill in a short survey

·       Participate in a 1.5-hour online focus group on what parents need to feel supported & have good care experiences

·       A post-focus group reflection (<20 mins)

1-1 interviews are also available if preferred.

Where can I learn more?

If you’re interested in participating or would like to know more, please contact Ms Erin Crellin,

Sleep Research Study (Neurodevelopmental Conditions)

A team of clinical researchers (including sleep specialists from Queensland Children’s Hospital, Children’s Hospital at Westmead and The Royal Children’s Hospital in Melbourne) are conducting research to learn more about sleep problems in children with neurodisabilty, and you are invited to help. As part of a large project across Australia, researchers want to know how sleep problems affect children and their families. This information to help improve sleep treatments for children with neurodevelopmental conditions, including those without a formal name. To have your say please click here and tell us about your child’s experience of sleep.

Reanalysing genomic data to solve undiagnosed cases: Have your say!

What do you think should happen if no diagnosis is found after patients have their genome sequenced? Should someone look at the data again in 2 years’ time? 5 years’ time? Or should this process happen automatically?

Are you a patient or family member? If so, researchers at the Murdoch Children’s Research Institute want to hear your thoughts!

Genomic sequencing is increasingly being used to find a diagnosis in many individuals with rare disease. However, more than half do not receive a genetic diagnosis when the test is done and we know that looking at their data again after a couple of years will produce answers for about 10% of people. Using technology to analyse genomic data automatically might improve this process. This will enable more data to be reanalysed more often than is possible at present. This is called automated reanalysis.

Along with the benefits, automated reanalysis also raises some practical and ethical challenges. In this project, we want to understand the views of patients and their families about automated reanalysis of genomic sequencing data.

If you have any questions about the project, you can contact Dr Danya Vears via email at

Click here to find out more and register to participate.

Dr Tracy Dudding-Byth is a geneticist and one of our SWAN ambassadors. She is leading the team behind FaceMatch, a project that uses facial recognition technology to improve diagnostic rates for genetic conditions. The software maps faces to detect similarities in people with the same condition. FaceMatch received the Research Australia Data Innovation Award last year.
  • If your child already has a diagnosis, uploading pictures of their face may help future children find a diagnosis.
  • If you are searching for a diagnosis, the FaceMatch team will work with you and your doctor to try and find a diagnosis.
Registering in FaceMatch takes around 5-10 minutes, and all data is stored in a private and secure manner. Please see the FaceMatch website for more details.

Recent studies involving SWAN members

We thank SWAN members for their participation in research. Here are some recent studies that SWAN parents/carers have contributed to:


Co-design, implementation, and evaluation of plain language genomic test reports

Gemma Brett (Genetic Counsellor at VCGS) worked with consumers to develop genomic test reports in plain language. Eight plain language genomic test report templates were developed for common genomic test outcomes in rare disease. Please click here to access the study summary. You can also see the genomic test report here.


Exploring the Journey to Genetic Services: A Qualitative

Study of Parental Perspectives of Children With Rare


Researchers at Monash Health, The University of Technology Sydney and the University of Queensland explored the diagnostic journey of parents in Queensland and Victoria. Courtney Wallingford (genetic counsellor and PhD candidate at the University of Queensland) presented the findings with a poster at the HGSA Conference in 2021. You can also find the study abstract in Twin Research and Genetics Studies. We are looking forward to seeing these results published.


Finding the gaps – Access to Australian government funding support for children with undiagnosed or rare genetic conditions

Researchers at The University of Melbourne and SWAN Australia collaborated on a study funded by the Melbourne Disability Institute. The study explored government funding gaps for families who have children with undiagnosed and rare genetic conditions to understand how to better support families. We look forward to publishing these findings soon.

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