0202407050054
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Patient Community Preferences for Genomic Testing in Rare Diseases in Australia 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.
STARDIT ID:
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').STARDIT ID:
0202407050054
Dates
State ongoing
Start 2023-01-01
Form updated 2025-02-05
Report authors
Location
Australia
URL
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
To determine how patients and carers who are impacted by rare disease value health and non-health outcomes of genomic tests (including the value of knowing)
To determine what preferences patients and carers have about data sharing and associated risk-benefit trade-offs, including considerations for data privacy, data storage and whether secondary findings are shared with them
To determine how participant characteristics (e.g. disease background, demographics) influence preferences
Keywords
dna testing
genomic testing
rare diseases
Genetic testing
policy
preference research
discrete choice experiment
Category
research
Inputs
group of individuals
discrete choice experiment participants (231) (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: Recruitment was primarily led by Rare Voices Australia (RVA) - national peak body for Australians living with a rare disease - who shared the study information via eNews, email and social media. Patient group leaders were encouraged to share the study information with their individual communities . As a secondary recruitment pathway, the specialist healthcare panel company, PureProfile was engaged to assist in reaching more people impacted by rare diseases.
Barriers: Time to complete the survey
Compensation: volunteer
Declared 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 affected reported results
individual
Maya Joshi
Task: research manager
Compensation: volunteer
individual
Simon Fifer
ID: https://orcid.org/0000-0001-5221-0067
Task: principal investigator
Compensation: volunteer
individual
A/Prof Sarah Norris
Task: co-investigator
Compensation: volunteer
individual
Dr Falak Helwani
Task: research team member
Compensation: volunteer
individual
Nicole Millis
Task: research team member
Compensation: volunteer
individual
Gillian Mason
Task: research team member
Compensation: volunteer
individual
Dr Jack Nunn
ID: https://orcid.org/0000-0003-0316-3254
Task: research team member
Compensation: volunteer
individual
Prof Deborah Marshall
Task: research team member
Compensation: volunteer
funding
The project is supported with untied funds from a Commonwealth Department of Health and Aged Care grant, held by A/Prof Norris in a University of Sydney research account. These funds have been provided to CaPPRe to cover direct costs of the research such as the ethics submission and participant remuneration, and are supplemented by volunteered time of the researchers associated with the project.