Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
File(s)
Published version
Author(s)
Type
Journal Article
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.
Date Issued
2025-03-06
Date Acceptance
2025-02-23
Citation
Familial Cancer, 2025, 24
ISSN
1389-9600
Publisher
Springer
Journal / Book Title
Familial Cancer
Volume
24
Copyright Statement
© The Author(s) 2025 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/40045045
PII: 10.1007/s10689-025-00451-1
Subjects
Genetic testing
Hereditary colorectal cancer
Mainstreaming
Multidisciplinary collaboration
Humans
Female
Middle Aged
Male
Uncertainty
Retrospective Studies
Adult
Colorectal Neoplasms
Aged
Genetic Testing
Patient Care Team
Genetic Predisposition to Disease
Colorectal Neoplasms, Hereditary Nonpolyposis
Young Adult
Publication Status
Published
Coverage Spatial
Netherlands
Article Number
26
Date Publish Online
2025-03-06