Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.
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 firstname.lastname@example.org.
Research Fee Update 2023
If you would like SWAN to help recruit participants for your research study, we will be charging a $100 fee in 2023 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, email@example.com
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.
NSW (ONLY) Parents / primary care givers of young people with intellectual disability under 18 years of age
Would you like to be part of a research project?
The research is about experiences of healthcare in NSW for children and young people under 18 years of age who have intellectual disability.
The researchers want to speak with parents and primary caregivers.
If you decide to participate, you will be asked to take part in one up to 30-minute interview via Microsoft teams where you will be asked questions on your experiences of using health services and the health outcomes for your child with intellectual disability.
Participants who take part in the study will receive a $50 Westfield gift card to supplement their time.
Please see the information sheet here.
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 firstname.lastname@example.org.
Click here to find out more and register to participate.
Respectful Communication Research
Researchers at the University of Melbourne and Murdoch Children’s Research Institute are interested in interviewing parents and carers of children with an undiagnosed or rare genetic condition living in Australia. They wish to explore families’ experiences of communication with genetic healthcare professionals.
Are you interested in a 30-60 minute interview over the phone or zoom? Please see the study flyer here and contact Lucy Burbury at email@example.com with any questions.
Tasmanian Health Service project into diagnostic pathways for rare and undiagnosed conditions
Do you live in Tasmania? Tasmanian Health service needs your help.
This project is underway to understand how people with rare conditions get a diagnosis and how improvements can be made to this process. We are asking for your help to understand the steps in getting a diagnosis and how easy or difficult this process is for you or for someone you care for.
The Survey will take approximately 10 minutes to complete and can be accessed here.
There is a further option after completing the survey to have a 1-1 interview to further understand how improvements can be made to the diagnosis journey for Tasmanian Residents.
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.