Exploring Treatment Preferences for Rare Diseases: A Systematic Review of Quantitative Preference Studies
Author(s)
Christine Michaels-Igbokwe, BA, PhD1, Malavika Venkatraman, MSc2, Keila Meginnis, PhD2, Erica Visintin, PhD2, Zaneta Balantac, BSc3, Ilene Hollin, PhD4, Norah L. Crossnohere, PhD5.
1Thermo Fisher Scientific, St Laurent, QC, Canada, 2Thermo Fisher Scientific, London, United Kingdom, 3Thermo Fisher Scientific, Wilmington, NC, USA, 4Temple University, Philadelphia, PA, USA, 5Ohio State University, Columbus, OH, USA.
1Thermo Fisher Scientific, St Laurent, QC, Canada, 2Thermo Fisher Scientific, London, United Kingdom, 3Thermo Fisher Scientific, Wilmington, NC, USA, 4Temple University, Philadelphia, PA, USA, 5Ohio State University, Columbus, OH, USA.
OBJECTIVES: Patient preference information (PPI) is increasingly important throughout the medical product lifecycle. PPI can provide valuable insights into the relative importance that patients and their families place on benefits and risks associated with novel treatments, which can inform regulatory and clinical decision making. Using standard quantitative preference elicitation methods to generate robust PPI can be challenging with small patient populations, particularly when there are few existing treatments and uncertainty around clinical evidence. To understand the state of practice, systematic review of the literature was conducted to identify studies using quantitative preference elicitation methods to assess preferences for treatments for rare diseases.
METHODS: A systematic search of EMBASE and MEDLINE was conducted in March 2023 to identify English-language articles reporting results of primary research. Studies were double screened, and extraction was completed following a pre-specified template.
RESULTS: 1,286 citations were identified and screened based on title and abstract. Following full-text review of 151 studies, 41 met inclusion criteria and were included in the review. Studies were published between 2005 and 2023, with 54% (n=22) published in 2020 or later. Discrete choice experiments (DCEs) were the most frequently used method of preference elicitation (n=31, 75%), followed by MCDA (n=5, 12%) and Best-worst scaling (n=4, 10%). Swing weighting, direct elicitation, and thresholding were used in one study each. Respondent populations included patients (n=28, 68%), parents/caregivers (n=14, 34%), health care professionals (n=10, 24%), and the general population (n=3, 7%). Where patient or parent/caregiver preferences were included, mean sample sizes were 164 (range: 9-1542) and 104 (range: 19-468), respectively.
CONCLUSIONS: DCEs are the most frequently used method of elicitation when assessing preferences for treatment for rare diseases. Exploration and adoption of individual-level preference elicitation methodologies that are suitable for implementation with smaller sample sizes can support increasing adoption and utilization of PPI.
METHODS: A systematic search of EMBASE and MEDLINE was conducted in March 2023 to identify English-language articles reporting results of primary research. Studies were double screened, and extraction was completed following a pre-specified template.
RESULTS: 1,286 citations were identified and screened based on title and abstract. Following full-text review of 151 studies, 41 met inclusion criteria and were included in the review. Studies were published between 2005 and 2023, with 54% (n=22) published in 2020 or later. Discrete choice experiments (DCEs) were the most frequently used method of preference elicitation (n=31, 75%), followed by MCDA (n=5, 12%) and Best-worst scaling (n=4, 10%). Swing weighting, direct elicitation, and thresholding were used in one study each. Respondent populations included patients (n=28, 68%), parents/caregivers (n=14, 34%), health care professionals (n=10, 24%), and the general population (n=3, 7%). Where patient or parent/caregiver preferences were included, mean sample sizes were 164 (range: 9-1542) and 104 (range: 19-468), respectively.
CONCLUSIONS: DCEs are the most frequently used method of elicitation when assessing preferences for treatment for rare diseases. Exploration and adoption of individual-level preference elicitation methodologies that are suitable for implementation with smaller sample sizes can support increasing adoption and utilization of PPI.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
PCR110
Topic
Patient-Centered Research
Disease
SDC: Rare & Orphan Diseases