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. 2018 May;26(5):605-615.
doi: 10.1038/s41431-018-0095-5. Epub 2018 Feb 8.

How is genetic testing evaluated? A systematic review of the literature

Erica Pitini  1 , Corrado De Vito  2 , Carolina Marzuillo  2 , Elvira D'Andrea  2   3 , Annalisa Rosso  2 , Antonio Federici  4 , Emilio Di Maria  5 , Paolo Villari  2
Affiliations

How is genetic testing evaluated? A systematic review of the literature

Erica Pitini et al. Eur J Hum Genet. 2018 May.

Abstract

Given the rapid development of genetic tests, an assessment of their benefits, risks, and limitations is crucial for public health practice. We performed a systematic review aimed at identifying and comparing the existing evaluation frameworks for genetic tests. We searched PUBMED, SCOPUS, ISI Web of Knowledge, Google Scholar, Google, and gray literature sources for any documents describing such frameworks. We identified 29 evaluation frameworks published between 2000 and 2017, mostly based on the ACCE Framework (n = 13 models), or on the HTA process (n = 6), or both (n = 2). Others refer to the Wilson and Jungner screening criteria (n = 3) or to a mixture of different criteria (n = 5). Due to the widespread use of the ACCE Framework, the most frequently used evaluation criteria are analytic and clinical validity, clinical utility and ethical, legal and social implications. Less attention is given to the context of implementation. An economic dimension is always considered, but not in great detail. Consideration of delivery models, organizational aspects, and consumer viewpoint is often lacking. A deeper analysis of such context-related evaluation dimensions may strengthen a comprehensive evaluation of genetic tests and support the decision-making process.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
PRISMA flow diagram of the review process
See this image and copyright information in PMC

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