Journal Article

Are we properly evaluating genetic and genomic testing? A systematic review of health technology assessment reports

Marzuillo, Carolina, Pistollato, Andrea, Sciurti, Antonio, Baccolini, Valentina, La Torre, Giuseppe, Riccio, Marianna, De Vito, Corrado, Mussetto, Ilaria, Siena, Leonardo Maria, Di Lorenzo, Giuseppe, Soccodato, Valentina, De Blasiis, Maria Roberta, Isonne, Claudia, Pierri, Francesco, Migliara, Giuseppe, Iera, Jessica, Kaminska, Anna Ewa, Rosso, Annalisa, Anniballo, Arianna, Villari, Paolo

2025

Overview

Background Despite advances in precision medicine, the translation of genetic and genomic technologies into routine practice is hampered by a heterogeneous and limited evidence base and the absence of standardized evaluation methodologies. Health Technology Assessment (HTA) plays a critical role in bridging this gap, yet assessment approaches and comprehensiveness vary widely. This systematic review aims to map the landscape of the assessment reports on genetic and genomics applications, analyze their methodological aspects and identify gaps. Methods PubMed, Scopus, Web of Science, and the international HTA database, were searched for assessment reports of genetic/genomic technologies. Information on reports general characteristics, assessment domains and their components, consulted sources of evidence and reported gaps was extracted. Findings were synthesized narratively. Results Out of 27,331 screened records, 41 reports were included, predominantly from Canada, the United Kingdom, and Australia, mainly aimed at informing policy making for single or multiple gene tests for cancer patients. Most reports used a generic HTA methodology and assessment domains varied across reports. Key clinical aspects, such as clinical accuracy and safety, suffered from evidence gaps (39.0% and 22.0%), while personal and societal aspects were the least investigated assessment domain (48.8-78.0%). Overall, lack of evidence and limited generalizability of findings were the most commonly reported gaps across multiple domains. Conclusions The review highlighted significant fragmentation in current evaluation methodologies of genetic and genomic applications, with underassessment of analytical/clinical accuracy, safety, and non-health outcomes, alongside evidence gaps and limited generalizability. These issues compromise both evaluation and decision-making process, underscoring the urgent need for alternative study designs and standardized, comprehensive assessment frameworks to facilitate the successful implementation of emerging genetic and genomic technologies.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Biomedical and Life Sciences / Biomedicine / Cancer / Cardiovascular disease / Clinical aspects / Computational Modelling and Epidemiology / Data collection / Decision making / Evaluation / Evidence-based medicine / Funding / Genetic and genomic applications / Genetic and genomic technologies / Genetic screening / Genetic Testing / Genomics / Health technology assessment / Humans / Medical diagnosis / Medicine/Public Health / Metabolic disorders / Methods / Precision medicine / Public health / Quality management / Review / Systematic review / Technology assessment / Technology Assessment, Biomedical / Translational research