Patient and Community Preferences for Genomic Testing in Rare Diseases in Australia

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Description: This study is being run to understand the priorities and concerns of Australian people, patients and their carers when it comes to genomic testing (DNA testing). An independent research company specialising in preference research (CaPPRe) is hosting and running this survey. The team that designed the survey includes the CaPPRe team, academic researchers, people who live with rare genetic conditions, their families and communities, patient/consumer organisations, and members of committees who make recommendations to government about which tests and treatments should receive public funding.

Genetic and genomic testing (DNA testing) can tell you information about your DNA and how it might affect your health and wellbeing. Genetic testing refers to a group of tests doctors use to investigate specific genes and the way that certain traits or conditions are passed down from one generation to another. Genomic testing allows for the investigation of many genes, or even all of a person’s genes (the ‘genome’) at once.

The goal of this research is to provide insights into the values and preferences of the patient community to policy-makers within government who make decisions regarding public funding for genomic testing. For example, decisions regarding whether a genomic test is added to the Medicare Benefits Schedule ('Medicare').
Dates

State ongoing
Start 2023-01-01
Form updated 2024-10-02

Report authors
Jack Nunn (link)
0000-0003-0316-3254
Created first version of STARDIT report
Location
Australia
URL
[cappre.info/images/Genomics/Genomic%20Testing%20PICF.pdf cappre.info/images/Genomics/Genomic%20Testing%20PICF.pdf]
Aims
understand the priorities and concerns of Australian people, patients and their carers when it comes to genomic testing (DNA testing).
provide insights into the values and preferences of the patient community to policy-makers within government who make decisions regarding public funding for genomic testing
Keywords
dna testing
genomic testing
rare diseases
Genetic testing
policy
Category
research

Inputs

individual

Maya Joshi (link)


Task: research manager
Compensation: paid
individual

Simon Fifer


Task: principal investigator
Compensation: paid
group of individuals

survey respondents (link)


Task: completed an online survey where they were shown several scenarios for different genomic testing options, and asked to choose which option they personally preferred
Method: online survey
Recruitment: email, social media
Compensation: volunteer
Competing interests: respondents were 'pre-screened' to ascertain the individual's personal 'interests' in relation to rare diseases (for example, a person living with a rare disease or a carrier of specific DNA variations of known significance)
Impact: responses from the survey will affect reported results
funding


Medical Research Future Fund

Outputs and impacts

publication/report/document

Online video presentation at HTAi 2024

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