A scoping review of the assessment reports of genetic or genomic tests reveals inconsistent consideration of key dimensions of clinical utility.

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Tác giả: Roza Adany, Stefania Boccia, Maria Luis Cardoso, Alexandra Costa, Matteo Di Pumpo, Angelica Valz Gris, Pragathy Kannan, Mark Kroese, Andres Metspalu, Roberta Pastorino, Markus Perola, Angelo Maria Pezzullo, Peter Piko, Martina Porcelli, Anu Reigo, Nicolò Scarsi, Diego Maria Tona, Mariliis Vaht, Astrid M Vicente

Ngôn ngữ: eng

Ký hiệu phân loại: 959.3031 *Thailand

Thông tin xuất bản: United States : Journal of clinical epidemiology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 552543

OBJECTIVE: Genetic and genomic tests are the cornerstone of personalized preventive approaches. Inconsistency in evaluating their clinical utility is often cited as a reason for their limited implementation in clinical practice, Previous reviews have primarily focused on theoretical frameworks used for clinical utility evaluations of genetic tests, rather than actual assessments, and examined dimensions, rather than specific indicators within these dimensions. We aimed to review the dimensions and the specific indicators measured in published assessment reports of genetic or genomic tests. DESIGN AND SETTING: We conducted a scoping review of assessment reports of genetic and genomic tests used for prevention, searching through PubMed, Web of Science, Scopus, the websites of 20 different organizations, Google, and Google Scholar. From the included assessments, we extracted the reported indicators of clinical utility, compiling a list of disease-specific indicators that detailed their numerator, denominator, and calculation methods. We analyzed the extracted indicators by stratifying them according to ten comprehensive dimensions of clinical utility, the assessment framework used, and the type of indicator (categorized as quantitative, qualitative, reference, no evidence reported). From these indicators, we then distilled a list of general indicators. RESULTS: We reviewed 3054 unique references and 12000 results from grey literature searches, ultimately selecting 57 assessment reports. The reference frameworks used were HTA (42%), EGAPP (25%), ACCE (21%), and others (12%). We identified 951 disease-specific indicators. The dimensions most frequently evaluated (i.e., had at least one indicator) were analytic validity (60%), clinical validity (79%), clinical efficacy (79%), and economic impact (58%). Only 12 assessments compared health outcomes between tested and untested groups, and fewer than 15% of the assessments addressed equity, acceptability, legitimacy, and personal value. CONCLUSIONS: Our study illustrates that, although dimensions such as equity and acceptability, are significantly emphasized in traditional evaluation frameworks, these are often not considered in the assessments. Additionally, our study has underscored a significant dearth of reported primary evidence concerning the clinical efficacy of these tests.
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