Objectives: The implementation of new applications into healthcare systems and practices frequently relies on health technology assessment (HTA). Given their complexity, HTA of genetic and genomic technologies (GGTs) faces multiple challenges; yet, no comprehensive synthesis exists. We systematically reviewed and summarized HTA challenges for GGTs, overall and by HTA domain. Methods: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, we searched 3 databases (OSF protocol h4qg2). Eligible studies primarily discussed HTA challenges/barriers for GGTs across any HTA domain. Issues were classified into 9 EUnetHTA’s Core Model domains plus a “framework” category. Results were synthesized narratively. Results: Twenty records published between 2007 and 2025 were included: heterogeneous in structure, most discussed multiple HTA domains, and some reported suggestions. Economic (n = 12), clinical (n = 9), and social (n = 8) considerations predominated, whereas safety and organizational aspects were underrepresented. Across domains, we identified a persistent mismatch between the rapid evolution of GGTs and the slower generation of evidence, along with insufficient standardization and validation of key procedures that hinder cross-study comparability. Other major issues included defining clear healthcare pathways, valuing genomic testing, and strengthening regulatory frameworks to protect patient rights, data integrity, and equity of access. Suggested remedies were adopting living/rapid HTA, defining core outcome sets, harnessing real-world data sources, standardizing guidelines, engaging stakeholders, and enhancing national commitment. Conclusions: Fast-moving science and inadequate methods hamper HTA of GGTs. Adopting flexible HTA methods, standardized outcomes and procedures, and multistakeholder engagement, supported by national infrastructures, can shift HTA toward a more agile, resource-enabled system that better supports timely, generalizable, and equitable decision making in genomics.
Fast Science, Slow Evaluation: What Makes Health Technology Assessment of Genetic and Genomic Technologies So Complicated? A Systematic Review of Methodological Challenges and Identified Suggestions
Sciurti, Antonio;Migliara, Giuseppe;
2026-01-01
Abstract
Objectives: The implementation of new applications into healthcare systems and practices frequently relies on health technology assessment (HTA). Given their complexity, HTA of genetic and genomic technologies (GGTs) faces multiple challenges; yet, no comprehensive synthesis exists. We systematically reviewed and summarized HTA challenges for GGTs, overall and by HTA domain. Methods: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, we searched 3 databases (OSF protocol h4qg2). Eligible studies primarily discussed HTA challenges/barriers for GGTs across any HTA domain. Issues were classified into 9 EUnetHTA’s Core Model domains plus a “framework” category. Results were synthesized narratively. Results: Twenty records published between 2007 and 2025 were included: heterogeneous in structure, most discussed multiple HTA domains, and some reported suggestions. Economic (n = 12), clinical (n = 9), and social (n = 8) considerations predominated, whereas safety and organizational aspects were underrepresented. Across domains, we identified a persistent mismatch between the rapid evolution of GGTs and the slower generation of evidence, along with insufficient standardization and validation of key procedures that hinder cross-study comparability. Other major issues included defining clear healthcare pathways, valuing genomic testing, and strengthening regulatory frameworks to protect patient rights, data integrity, and equity of access. Suggested remedies were adopting living/rapid HTA, defining core outcome sets, harnessing real-world data sources, standardizing guidelines, engaging stakeholders, and enhancing national commitment. Conclusions: Fast-moving science and inadequate methods hamper HTA of GGTs. Adopting flexible HTA methods, standardized outcomes and procedures, and multistakeholder engagement, supported by national infrastructures, can shift HTA toward a more agile, resource-enabled system that better supports timely, generalizable, and equitable decision making in genomics.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
