# Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting

## TL;DR

A regional expert team meeting helps manage uncertainty in hereditary colorectal cancer by providing guidance beyond current guidelines.

## Contribution

The study demonstrates how a multidisciplinary team meeting model can support clinical decision-making in uncertain cases of hereditary CRC.

## Key findings

- A regional MDM discussed 260 cases, with 24.6% requiring management beyond existing guidelines.
- Uncertainty in genetic testing indications was addressed in 56.9% of cases, and molecular interpretation was resolved in 23.5%.
- The MDM model supports clinicians in areas where evidence and guidelines are limited.

## Abstract

There is frequent uncertainty in both the precise quantification of risk, and the application of clinical interventions, designed to mitigate increased heritable colorectal cancer (CRC) susceptibility. We evaluated the role of a collaborative specialist multidisciplinary team meeting (MDM) for familial and hereditary CRC, led by the St Mark’s Hospital Centre for Familial Intestinal Cancer specifically in supporting the clinical management of uncertainty. A retrospective thematic analysis of meeting outcomes from inception in June 2020 until March 2023 was performed. Descriptive statistics were employed to ascertain clinicopathological data, clinical queries and whether MDM recommendations were outside the scope of current guidelines. In total 260 cases were discussed from 13 regional institutions. A prior personal history of cancer was present in 215 (82.6%), and a family history of CRC in 107(41.2%) and non-CRC 27(10.4%) cases. In thematic analysis uncertainty related to indications for genetic testing was considered in 148 (56.9%) of cases, with unexplained mismatch repair deficiency (u-dMMR) in 78 (30%) of cases, and resolution of molecular interpretation in 61 (23.5%). Surveillance related queries represented 55 (21.1%), and mainstreaming 29 (11%) of cases. Management was recommended beyond the scope of existing guidelines in 64 (24.6%) cases. This regional hereditary CRC MDM provides clinicians with support in areas of uncertainty in diagnosis and clinical management, supporting clinical decision-making where evidence and clinical guidelines may be limited. This model could be replicated to support complexity in clinical care in other geographical regions or other health conditions.

The online version contains supplementary material available at 10.1007/s10689-025-00451-1.