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Barriers and Facilitators in Diagnostic Pathways That Align Universal Tumor Screening and Mainstream Genetic Testing
Linda Battistuzzi1, Eva Blondeaux2, Alberto Puccini3,4
1Medical Oncology Unit 2, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Background:
Approximately 3% of colorectal cancers (CRCs) are due to Lynch syndrome (LS), a hereditary cancer syndrome caused by pathogenic variants (PVs) in the mismatch repair (MMR) genes. Patients with CRC and LS have elevated lifetime risks for a range of cancers and require personalized treatment and targeted surveillance. Relatives of people affected by LS who share the same PV also have elevated cancer risks and can benefit from preventive measures and/or risk-reducing surgeries. Despite this, LS remains vastly underdiagnosed. Universal tumor screening (UTS) for deficient MMR is recommended in diagnosing LS in patients with CRC. This process, when combined with genetic testing (GT) offered within routine cancer care (termed "mainstream GT"), aims to identify individuals at risk efficiently, but integrating UTS and mainstream GT for LS in CRC is a complex endeavor.
Objective:
The aim of the proposed scoping review will be to comprehensively explore the literature on diagnostic pathways comprising UTS and mainstream GT for LS among patients with CRC and barriers and facilitators in their implementation.
Methods:
The scoping review will follow Arksey and O'Malley's expanded framework. Results will be reported following the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines and summarized quantitatively. A narrative synthesis will also be performed using the Theoretical Domains Framework.
Results:
The results will be presented in a forthcoming scoping review, which we expect to publish in a peer-reviewed journal by early 2026.
Conclusions:
Aligning UTS with mainstream GT for LS in CRC may boost early diagnosis and prevention while reducing waiting times and other patient burdens. By addressing barriers to and facilitators in diagnostic pathways, health care systems can improve the identification and management of LS, ultimately leading to better outcomes for patients and their families. The insights gained from this scoping review will inform the development of a mixed methods study about implementing diagnostic pathways for LS in CRC that integrate UTS and mainstream GT in Italy.
International Registered Report Identifier (Irrid):
PRR1-10.2196/70831.
