Dean A Regier1, Deirdre Weymann2, James Buchanan3, Deborah A Marshall4, Sarah Wordsworth3. 1. Canadian Centre for Applied Research in Cancer Control, Cancer Control Research, BC Cancer, Vancouver, British Columbia, Canada; School of Population and Public Health, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: dregier@bccrc.ca. 2. Canadian Centre for Applied Research in Cancer Control, Cancer Control Research, BC Cancer, Vancouver, British Columbia, Canada. 3. Health Economics Research Centre, University of Oxford, Oxford, United Kingdom. 4. Department of Community Health Sciences, University of Calgary, Calgary, Alberta, Canada.
Abstract
BACKGROUND: Next-generation sequencing (NGS) technologies have seen variable adoption in the clinic. This is partly due to a lack of clinical and economic studies, with the latter increasingly challenged to examine patient preferences for health and nonhealth outcomes (e.g., false-positive rate). OBJECTIVES: To conduct a structured review of studies valuing patients' preference-based utility for NGS outcomes, to highlight identified methodological challenges, and to consider how studies addressed identified challenges. METHODS: We searched MEDLINE (PubMed), Embase (Ovid), and Web of Science for published studies examining outcomes from health care decisions informed by NGS. We focused our search on direct elicitations of preference-based utility. We reviewed included studies and qualitatively grouped and summarized stated challenges and solutions by theme. RESULTS: Eleven studies were included. Most of them (n = 6) used discrete choice experiments to value utility. We categorized challenges into four themes: 1) valuing the full range of NGS outcomes, 2) accounting for accuracy and uncertainty surrounding effectiveness, 3) allowing for simultaneous multiple and cascading risks, and 4) incorporating downstream consequences. Studies found strong evidence of utility for NGS information, regardless of health improvement. Investigators addressed challenges by simplifying complex choices, by including health outcomes alongside nonhealth outcomes, and by using multiple elicitation techniques. CONCLUSIONS: The breadth and complexity of NGS-derived information makes the technology a unique and challenging application for utility valuation. Failing to account for the utility or disutility of NGS-related nonhealth outcomes may lead to overinvestment or underinvestment in NGS, and so there is a need for research addressing unresolved challenges.
BACKGROUND: Next-generation sequencing (NGS) technologies have seen variable adoption in the clinic. This is partly due to a lack of clinical and economic studies, with the latter increasingly challenged to examine patient preferences for health and nonhealth outcomes (e.g., false-positive rate). OBJECTIVES: To conduct a structured review of studies valuing patients' preference-based utility for NGS outcomes, to highlight identified methodological challenges, and to consider how studies addressed identified challenges. METHODS: We searched MEDLINE (PubMed), Embase (Ovid), and Web of Science for published studies examining outcomes from health care decisions informed by NGS. We focused our search on direct elicitations of preference-based utility. We reviewed included studies and qualitatively grouped and summarized stated challenges and solutions by theme. RESULTS: Eleven studies were included. Most of them (n = 6) used discrete choice experiments to value utility. We categorized challenges into four themes: 1) valuing the full range of NGS outcomes, 2) accounting for accuracy and uncertainty surrounding effectiveness, 3) allowing for simultaneous multiple and cascading risks, and 4) incorporating downstream consequences. Studies found strong evidence of utility for NGS information, regardless of health improvement. Investigators addressed challenges by simplifying complex choices, by including health outcomes alongside nonhealth outcomes, and by using multiple elicitation techniques. CONCLUSIONS: The breadth and complexity of NGS-derived information makes the technology a unique and challenging application for utility valuation. Failing to account for the utility or disutility of NGS-related nonhealth outcomes may lead to overinvestment or underinvestment in NGS, and so there is a need for research addressing unresolved challenges.
Authors: Deborah A Marshall; Luiza R Grazziotin; Dean A Regier; Sarah Wordsworth; James Buchanan; Kathryn Phillips; Maarten Ijzerman Journal: Value Health Date: 2020-03-26 Impact factor: 5.725
Authors: Hadley Stevens Smith; Kyle B Brothers; Sara J Knight; Sara L Ackerman; Christine Rini; David L Veenstra; Amy L McGuire; Benjamin S Wilfond; Janet Malek Journal: Am J Hum Genet Date: 2021-10-22 Impact factor: 11.025
Authors: Robin Z Hayeems; David Dimmock; David Bick; John W Belmont; Robert C Green; Brendan Lanpher; Vaidehi Jobanputra; Roberto Mendoza; Shashi Kulkarni; Megan E Grove; Stacie L Taylor; Euan Ashley Journal: NPJ Genom Med Date: 2020-12-15 Impact factor: 8.617