Quantifying the Value of Knowing: Measuring Patient Community Preferences for Genomic Testing in Rare Diseases
Author(s)
Simon Fifer, PhD1, Sarah Norris, PhD2, Deborah A. Marshall, PhD3, Nicole Millis, BSW4, Maya Joshi, BA1, Gillian Mason, BPhysio5, Jack Nunn, PhD6, Falak Helwani, PhD4.
1CaPPRe, Sydney, Australia, 2University of Sydney, Sydney, Australia, 3University of Calgary, Calgary, AB, Canada, 4Rare Voices Australia, Melbourne, Australia, 5National Disability Research Partnership (NDRP), Melbourne, Australia, 6Science For All, Melbourne, Australia.
1CaPPRe, Sydney, Australia, 2University of Sydney, Sydney, Australia, 3University of Calgary, Calgary, AB, Canada, 4Rare Voices Australia, Melbourne, Australia, 5National Disability Research Partnership (NDRP), Melbourne, Australia, 6Science For All, Melbourne, Australia.
OBJECTIVES: Genomic testing can have life-changing impacts for the rare disease community. However, there is a lack of evidence around how people value different types of benefits, particularly non-health benefits, making HTA assessment challenging.
METHODS: An online survey, including two Discrete Choice Experiments (DCE), was disseminated to adult patients and carers impacted by genetic rare diseases in Australia. Participants were presented with several choice tasks that displayed hypothetical testing alternatives. DCE attributes were selected based on a literature review, discussions with relevant stakeholders (HTA body) and community consultation. DCE1 focussed on testing benefits and included the attributes chance of clinical benefits, diagnostic benefits and personal benefits (value of knowing), plus costs, wait time and links to research. DCE2 focussed on data sharing and storage and included attributes on sharing of secondary findings, sharing of findings with insurers, data storage (who and where), plus costs and wait time. Data were analysed using mixed logit models to account for heterogeneity.
RESULTS: Recruitment was primarily facilitated via Rare Voices Australia, a national peak body. A total of 235 participants completed the study. In DCE1 chance of clinical benefits and chance of diagnostic benefits were the most important attributes, closely followed by out-of-pocket costs and chance of personal benefits. In DCE2 the most important attributes were out of pocket costs and sharing of secondary findings. All attributes significantly impacted choice behaviour, and the models identified preference heterogeneity which can be explained by observable characteristics (e.g., cancer vs non-cancer).
CONCLUSIONS: Quantifying the value of knowing is a novel undertaking that will enhance HTA decision-making around the value of new and existing genomic testing technologies. Our study models a practical approach to capturing patient preferences, designed in partnership with decision-makers, academics and patient/consumer representatives to fill an evidence gap for non-health benefits and embed the patient perspective in decision-making.
METHODS: An online survey, including two Discrete Choice Experiments (DCE), was disseminated to adult patients and carers impacted by genetic rare diseases in Australia. Participants were presented with several choice tasks that displayed hypothetical testing alternatives. DCE attributes were selected based on a literature review, discussions with relevant stakeholders (HTA body) and community consultation. DCE1 focussed on testing benefits and included the attributes chance of clinical benefits, diagnostic benefits and personal benefits (value of knowing), plus costs, wait time and links to research. DCE2 focussed on data sharing and storage and included attributes on sharing of secondary findings, sharing of findings with insurers, data storage (who and where), plus costs and wait time. Data were analysed using mixed logit models to account for heterogeneity.
RESULTS: Recruitment was primarily facilitated via Rare Voices Australia, a national peak body. A total of 235 participants completed the study. In DCE1 chance of clinical benefits and chance of diagnostic benefits were the most important attributes, closely followed by out-of-pocket costs and chance of personal benefits. In DCE2 the most important attributes were out of pocket costs and sharing of secondary findings. All attributes significantly impacted choice behaviour, and the models identified preference heterogeneity which can be explained by observable characteristics (e.g., cancer vs non-cancer).
CONCLUSIONS: Quantifying the value of knowing is a novel undertaking that will enhance HTA decision-making around the value of new and existing genomic testing technologies. Our study models a practical approach to capturing patient preferences, designed in partnership with decision-makers, academics and patient/consumer representatives to fill an evidence gap for non-health benefits and embed the patient perspective in decision-making.
Conference/Value in Health Info
2025-09, ISPOR Real-World Evidence Summit 2025, Tokyo, Japan
Value in Health Regional, Volume 49S (September 2025)
Code
RWD182
Topic Subcategory
Data Protection, Integrity, & Quality Assurance
Disease
SDC: Rare & Orphan Diseases