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BRCA1HGNC ADPubMedMainstreaming

ACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-initiated, third-party-facilitated family cascade testing

Epstein ES, Primiano M, Ozarowski AL, et al.Gynecologic Oncology, 2026 · April 2026
Relevance score
7/10
Disease / domain
Hereditary cancer predisposition — cascade testing implementation
Source
PubMed
PMID 42000374
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Method / description

BRCA1, BRCA2 (family cascade)

Assisted cascade testing program (ACT-ON): proactive outreach to relatives of BRCA1/2 probands, facilitation by third parties (patient navigators); assessment of testing rate and number of carriers identified in real-world experience

Summary

Evaluation of the ACT-ON assisted cascade testing program in gynecologic oncology. The program deploys patient navigators to proactively contact first-degree relatives of probands with pathogenic BRCA1/2 variants. The real-world experience demonstrates a significant increase in testing rates among eligible relatives compared to traditional proband-family communication, with reduced delays between proband identification and relative testing.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Analysis

Cascade testing remains underused in France and Europe: only a minority of eligible relatives get tested after proband identification. The proactive ACT-ON model, with a third-party facilitator, is potentially applicable to the French context (via oncogeneticists and multidisciplinary teams). To be placed on the MDT agenda.

Why this score?

proactive real-world cascade testing +2; impact on number of identified carriers +2; potentially exportable model +2; Gynecol Oncol +1

Keywords

cascade testingBRCA1BRCA2ACT-ONpatient navigatorsimplementation
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