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

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.

Attitudes toward the right to autonomous decision‐making in psychiatric genetic testing: Controversial and context‐dependent

“…Testing the burden of the cumulative effects of common risk variants is in principle possible and already marketed (e.g., https://staging.geneplaza.com/app-store/68/preview; Plomin & von Stumm, ), albeit not recommended yet for clinical use (International Society of Psychiatric Genetics, ; https://ispg.net/genetic-testing-statement). The effective translation of the abovementioned findings in clinical practice will require a full evaluation, which includes several requirements (Haddow & Palomaki, ; International Society of Psychiatric Genetics, ; Marzuillo, De Vito, D'Andrea, Rosso, & Villari, ); today, evaluation frameworks of genetic testing mainly focus on analytic and clinical validity, clinical utility, and even economic aspects, but less on ethical, legal, and social implications (ELSI), the context of implementation, and viewpoints of consumers (D'Andrea et al, ; D'Andrea, Marzuillo, Pelone, De Vito, & Villari, ; Di Marco et al, ; Pitini et al, ). This is likely due to concerns about systematic ethical examination in ELSI research (Walker & Morrissey, ).…”

What Will It Take to Build an Expert Group of Nutrigenomic Practitioners?

“…Their challenge, however, is in choosing the best commercially available NGX test to work with in their practice. There is variability in the methodology and rigor driving NGX test development and execution [15][16][17] and HCPs need to be able to critically evaluate these tests.…”

“…HCPs need to actively engage with these companies, starting with an understanding of what criteria were used to select the gene variants included in the test. Researchers and various private and public organizations have developed methods for evaluating genetic tests in clinical settings, to guide the proper translation of genomics into clinical practice [15]. The main evaluation method for assessing the performance of genetic tests from the laboratory to clinical practice is the ACCE mod-Lifestyle Genomics 2020;13:122-128 DOI: 10.1159/000507252 el, which stands for the four evaluation criteria; analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications [18].…”

Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information?

“…An independent, nonfederal EGAPP Working Group (EWG), consisting of a multidisciplinary expert panel selects topics of interest, reviews evidence, and recommends courses of action [2]. Key objectives of the EWG are to develop an openly accountable process, reduce conflicts of interest, and provide a connection between well-established evidence and the EWG recommendations [2,5].…”

“…In 2011, the ECRI Institute utilized the EGAPP process to develop a set of analytical frameworks for various testing scenarios and other stakeholder aspects. Lastly, the EuroGentest inspired the 2017 Australian Clinical Utility Card [5].…”