Abstract Background Genetic or genomic tests are the cornerstones of personalized prevention. Previous reviews primarily focused on theoretical frameworks rather than actual assessments and assessed dimensions rather than specific indicators within these dimensions. Our scoping review aimed to review the dimensions and the specific indicators measured in the published assessment reports of genetic or genomic tests. Methods We selected formal assessments of genetic and genomic test used for prevention through PubMed, Web of Science, Scopus, websites of 20 different organizations, Google, and Google Scholar. Also, through a separate analysis we identified ten comprehensive dimensions of clinical utility through an analysis of 30 theoretical frameworks for genetic and genomic tests. From the included assessments, we extracted all the indicators, clustering them based on the comprehensive dimensions. Results From 3054 unique references and 12000 grey literature search results, we collected 57 assessments, all from high income-countries (in Europe (53%) and North America (47%)). The assessment methods were HTA (42%), EGAPP (25%), ACCE (21%) and other (12%). 951 disease-specific indicators were extracted from the assessments. Analytic validity (60%), clinical validity (79%) clinical efficacy (79%), economic impact (58%) were the most common dimensions (had at least one indicator). However, only 12 assessments (21%) include indicators that compared health outcomes between tested and untested groups. Equity, acceptability, legitimacy, and personal value were evaluated in less than 15% of the documents. Conclusions Our study illustrate 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 primary evidence concerning the clinical efficacy of these technologies. Key messages • Our study highlights the prevalence of evaluations lacking indicators for equity, acceptability, and legitimacy dimensions and a lack of direct evidence of clinical efficacy. • The catalog of indicators was openly provided as a resource for researchers and institutions working in evidence-based evaluations of personalized preventive healthcare.
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