Genetics in medicine : official journal of the American College of Medical Genetics · 2026
The Patient-reported Genetic testing Utility InDEx: A novel measure of personal utility.
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Poole Elise, Xiao Bowen, Luca Stephanie, Assamad Daniel, Abbott Lesleigh S, Armstrong Linlea, Boycott Kym M, Carroll June C, Chad Lauren, De Bie Isabelle, Denburg Avram, Deyell Rebecca J, Elliott Alison M, Goudie Catherine, Laberge Anne-Marie, Mucha Bettina E, Peltekova Iskra T, Quinlan Becky, Sawyer Sarah L, Smith Maureen, Villani Anita, Ungar Wendy J, Hayeems Robin Z, P-GUIDE Study Team
Аннотация
PURPOSE: Consensus is lacking on how to define and measure the concept of personal utility in genomic medicine. The study objective was to develop and assess the validity of the Patient-reported Genetic testing Utility InDEx (P-GUIDE) for pediatric genetics.
METHODS: Informed by the literature, experts, and patient partners, a 55-item first draft of P-GUIDE was developed. Interviews were conducted with parents of children who had undergone genetic testing to assess item clarity and relevance. Clinical experts assessed content validity. Two independent sequential samples of parents completed questionnaires. Item reduction was achieved using exploratory factor analysis and confirmatory factor analysis. The performance characteristics of the final tool were assessed.
RESULTS: Interviewees (n = 22) found most items relevant but requiring modification. Clinical experts (n = 11) recommended further revisions. Exploratory factor analysis (n = 103) removed 9 items. Confirmatory factor analysis (n = 103) generated a final tool consisting of 19 items across 3 factors: understanding and decision-making, psychosocial benefit, and psychosocial concern. P-GUIDE scores were positively correlated with published measures of utility, knowledge, empowerment, and emotion, establishing construct validity. P-GUIDE demonstrated strong test-retest reliability.
CONCLUSION: P-GUIDE is available for use in pediatric populations. Emerging adaptations of P-GUIDE contribute to a novel utility measurement system for genetic testing.
METHODS: Informed by the literature, experts, and patient partners, a 55-item first draft of P-GUIDE was developed. Interviews were conducted with parents of children who had undergone genetic testing to assess item clarity and relevance. Clinical experts assessed content validity. Two independent sequential samples of parents completed questionnaires. Item reduction was achieved using exploratory factor analysis and confirmatory factor analysis. The performance characteristics of the final tool were assessed.
RESULTS: Interviewees (n = 22) found most items relevant but requiring modification. Clinical experts (n = 11) recommended further revisions. Exploratory factor analysis (n = 103) removed 9 items. Confirmatory factor analysis (n = 103) generated a final tool consisting of 19 items across 3 factors: understanding and decision-making, psychosocial benefit, and psychosocial concern. P-GUIDE scores were positively correlated with published measures of utility, knowledge, empowerment, and emotion, establishing construct validity. P-GUIDE demonstrated strong test-retest reliability.
CONCLUSION: P-GUIDE is available for use in pediatric populations. Emerging adaptations of P-GUIDE contribute to a novel utility measurement system for genetic testing.