Work

Testing positive after genetic testing for hereditary cancer: whatÓ?s next?

Year: 2025

Type: article

Abstract: Background: The growing integration of genetic testing into clinical oncology practice has led to the identification of a growing number of individuals carrying pathogenic variants associated with hereditary cancer.Objectives: These cases require a multidisciplinary and personalized approach; however, access to structured follow-up care remains unstandardized in Portugal.Methods: To discuss existing organizational models and establish consensus on an optimal infrastructure, the Hereditary Cancer Group of the Portuguese Society of Oncology organized a workshop in September 2023, involving representatives from various healthcare units across the country.Results: This document, arising from that meeting, proposes the implementation of a structured follow-up model for individuals at genetic risk of cancer.It aims to ensure equitable access to specialized care and to strengthen collaboration with General and Family Medicine.This coordination faces significant challenges, including the transmission of genetic information and limited access to imaging prescriptions, such as magnetic resonance imaging.Despite advances in molecular testing for hereditary cancer diagnosis, the clinical follow-up infrastructure -particularly in terms of multidisciplinary teams, genetic information management, equipment availability, and human resources -has not kept pace.Nevertheless, several centers have begun establishing multidisciplinary teams comprising various medical specialties, specialized nurses, and other health professionals who play a key role in managing patients' care pathways.A central priority is to define the role of the case navigator and ensure continuous patient contact throughout the care journey.This document presents a set of proposals aimed at fostering care organization and integration, technological solutions, the implementation of case navigators, and the dissemination of updates from European reference networks nationwide.

Source: Revista Portuguesa Oncologia

DOI: 10.24875/rpo.25000008