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Defining and measuring the value of genetic testing: Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE) for prenatal care

Prenatal Genetics
  • Primary Categories:
    • ElSI Ethics Legal and Social Issues
  • Secondary Categories:
    • ElSI Ethics Legal and Social Issues
Introduction:
High-resolution technologies have transformed genetic testing in prenatal care to aid the diagnosis of fetal anomalies detected on ultrasound or suspected through positive serum screening results. Beyond clinical utility of prenatal testing as it relates to diagnostic yield and clinical management changes, there is a need to understand the value of prenatal tests from the patient perspective using a validated measure. The purpose of this study is to develop and assess the content validity of a novel measure of personal utility, the Patient-reported Genetic testing Utility InDEx (P-GUIDE), for prenatal care.

Methods:
Informed by an evidence synthesis, an initial pool of 40 candidate items was generated and organized into five domains of personal utility: cognitive, affective, behavioural, social support, and medical management. To assess content validity, interviews were conducted with individuals who had prenatal genetic testing within the past year. Individuals who received prenatal genetic testing triggered by a positive serum screen, a first or second-trimester ultrasound finding, or a positive family history, were eligible. Participants reflected on the concept of personal utility and provided feedback on the relevance, comprehensibility, and comprehensiveness of the preliminary P-GUIDE items. Item-specific feedback was synthesized to inform revisions. Content validity questionnaires were subsequently completed by interview participants and clinical genetics experts to assess the relevance and clarity of the revised list of items. Participants rated the items on a 5-point Likert scale (strongly disagree-strongly agree). Experts rated the items on 4-point Likert scales (not relevant-very relevant; not clear-very clear).

Results:
Twenty women were interviewed, of whom 9 (45%) received non-diagnostic results, 8 (40%) received diagnostic results, and 3 (15%) received variants of uncertain significance. Six (30%) participants terminated their pregnancy. All domains of personal utility resonated with participants. New items related to hope and bonding with the baby were suggested. Two items were removed, 9 items were added, and 38 items were reworded. Of the 20 interviewees, 17 completed the content validity questionnaire. Participants agreed that the revised list of 47 items was relevant, however, the degree of relevance depended upon the outcome of each participant’s pregnancy. Most participants strongly agreed that prenatal genetic testing was useful because it helped them have peace of mind and increased their confidence in their decision to continue or terminate their pregnancy. Based on feedback, 19 items were reworded, one item was deleted and two were combined. Twelve experts completed the content validity questionnaire. Experts rated 35 items as relevant, five items as needing revision, and five items were suggested for deletion. Experts rated each domain as relevant except for the social support domain. One item requiring revision related to the benefit of genetic testing for scientific research. This item was modified to focus instead on the benefit of genetic testing for scientific knowledge, as experts thought the focus on research was misplaced in the context of prenatal care. An item related to helping the patient or their family serve as a resource for other people was removed as it was not considered relevant by some experts. After synthesizing all content validity data, 22 items were reworded, 5 items were added, and 9 items were removed.

Conclusion:
Our study demonstrated that the preliminary P-GUIDE Prenatal items achieved content validity. Next steps include a prospective cohort study to facilitate item reduction and to establish structural validity of the revised tool. Once validated, P-GUIDE Prenatal will serve as a standardized approach to aid clinicians, researchers and policymakers in assessing the value of prenatal genomic testing from a patient perspective. Evidence generated from P-GUIDE will enhance the voices of pregnant individuals in policy deliberations and funding recommendations.

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