Understanding genetic testing uptake in public health: a systematic review
Abstract
Background: Genetic testing is a cornerstone of personalised medicine, yet its implementation depends on population understanding, acceptance and informed decision-making. Variability in perceptions across populations may affect uptake and equity, posing challenges for public health integration.
Methods: A systematic review was conducted to synthesise evidence on perceptions, attitudes and decision-making related to genetic testing across multiple populations. We searched the following databases from inception to May 2025 to identify evidence syntheses: MEDLINE (Ovid), Embase (Elsevier), PsycINFO (EBSCO), CINAHL (EBSCO), the Cochrane Library (Wiley), Web of Science (FECYT), TRIP Database Pro, and the International HTA Database (INAHTA). A total of 2,345 records were identified, of which 1,594 were screened after duplicates were removed. Following full-text assessment, 63 studies were included. Data were analysed using thematic synthesis.
Results: The included studies, predominantly systematic reviews (n = 45), scoping reviews (n = 7), and meta-analyses (n = 3), synthesised evidence from over 1,500 primary studies. Mixed-methods approaches predominated (74.6%). Findings revealed substantial variability in knowledge and attitudes. Key barriers included limited genetic literacy, concerns about privacy and discrimination, and uncertainty regarding clinical utility. Facilitators included perceived personal and familial benefits, trust in healthcare professionals, and access to genetic counselling. Differences across populations highlighted inequities in access and understanding.
Conclusions: Population perceptions of genetic testing are heterogeneous and context-dependent. Addressing informational, ethical, and organisational barriers is essential to support informed decision-making and to ensure the equitable integration of genetic testing into public health systems.
Key messages: • Population perceptions, not only technological advances, determine the real-world uptake, equity, and impact of genetic testing in public health systems.
• Synthesising 63 studies, this review identifies key barriers and facilitators to genetic testing, informing strategies for equitable and effective implementation.
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BibTeX
@article{garciasanz2026understanding,
title = {{Understanding genetic testing uptake in public health: a systematic review}},
author = {PJ García-Sanz and O Indarte Pazmiño and M Blázquez Romero and R Rodríguez López and JR Lacalle Remigio and JA Blasco},
journal = {The European Journal of Public Health},
year = {2026},
month = oct,
doi = {10.1093/eurpub/ckag169.1848},
url = {https://doi.org/10.1093/eurpub/ckag169.1848},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Understanding genetic testing uptake in public health: a systematic review
AU - PJ García-Sanz
AU - O Indarte Pazmiño
AU - M Blázquez Romero
AU - R Rodríguez López
AU - JR Lacalle Remigio
AU - JA Blasco
PY - 2026
DA - 2026/10/01
JO - The European Journal of Public Health
DO - 10.1093/eurpub/ckag169.1848
UR - https://doi.org/10.1093/eurpub/ckag169.1848
AB - Background: Genetic testing is a cornerstone of personalised medicine, yet its implementation depends on population understanding, acceptance and informed decision-making. Variability in perceptions across populations may affect uptake and equity, posing challenges for public health integration. Methods: A systematic review was conducted to synthesise evidence on perceptions, attitudes and decision-making related to genetic testing across multiple populations. We searched the following databases from inception to May 2025 to identify evidence syntheses: MEDLINE (Ovid), Embase (Elsevier), PsycINFO (EBSCO), CINAHL (EBSCO), the Cochrane Library (Wiley), Web of Science (FECYT), TRIP Database Pro, and the International HTA Database (INAHTA). A total of 2,345 records were identified, of which 1,594 were screened after duplicates were removed. Following full-text assessment, 63 studies were included. Data were analysed using thematic synthesis. Results: The included studies, predominantly systematic reviews (n = 45), scoping reviews (n = 7), and meta-analyses (n = 3), synthesised evidence from over 1,500 primary studies. Mixed-methods approaches predominated (74.6%). Findings revealed substantial variability in knowledge and attitudes. Key barriers included limited genetic literacy, concerns about privacy and discrimination, and uncertainty regarding clinical utility. Facilitators included perceived personal and familial benefits, trust in healthcare professionals, and access to genetic counselling. Differences across populations highlighted inequities in access and understanding. Conclusions: Population perceptions of genetic testing are heterogeneous and context-dependent. Addressing informational, ethical, and organisational barriers is essential to support informed decision-making and to ensure the equitable integration of genetic testing into public health systems. Key messages: • Population perceptions, not only technological advances, determine the real-world uptake, equity, and impact of genetic testing in public health systems. • Synthesising 63 studies, this review identifies key barriers and facilitators to genetic testing, informing strategies for equitable and effective implementation.
SN - 1101-1262
SN - 1464-360X
ER -