Barriers and Facilitators to the Implementation of Pre-Symptomatic Genetic Testing in Clinical Practice: An Updated Systematic Review

Pre-symptomatic genetic and genomic testing can identify individuals at increased disease risk before symptoms emerge, but implementation depends on patient, clinician, organisational and system factors. This updated systematic review examined barriers and facilitators to implementation after the search period of Shen et al. (through 22 May 2020). PubMed was searched on 3 August 2026 using three independently constructed search sets for genetic/genomic testing, presymptomatic/asymptomatic screening, and implementation-related evidence, combined as #1 AND #2 AND #3. English-language records from 2020–2026 were screened, with publication dates audited against the update boundary. One reviewer conducted screening, eligibility assessment, design-appropriate JBI critical appraisal, extraction and narrative thematic synthesis. Of 824 records identified before filtering, 347 were screened, 91 reports were sought, 80 full texts were assessed, and 63 studies were included. Across 424 extracted barrier/facilitator findings, system-level determinants were most frequent (141 findings across 47 studies), followed by patient-level determinants (103 across 40). Thirty-four of 58 themes from Shen et al. were confirmed, while 17 additional themes were identified, including care-pathway design and follow-up, health equity and representativeness, workforce capacity, organisational readiness, logistics, and family dynamics. The post-2020 evidence places greater emphasis on operational delivery and health-system capacity, although comparisons with the earlier review are limited by PubMed-only coverage and a single-reviewer workflow. Implementation should therefore be understood as a care pathway extending beyond the genetic test itself.