Testing positive after genetic testing for hereditary cancer: what’s next?
Isália Miguel 1, 2, 3, Sandra Bento 4, 2, 3, Sara Câmara 5, 3, Susy Costa 6, 3, Luzia Garrido 6, 3, Maria Almeida 7, 3, João Silva 8, 3, Isadora Rosa 9, 2, Paula Rodrigues 2, Carolina Carvalho 10 
, Pedro Souteiro 11, Rosa Neto-Silva 12, Sandra Silva-Soares 13, Miguel Ornelas-Azevedo 14, Gabriela Sousa 15, Diana Simão 16, Tamara Milagre 17, Graça Freitas 18, Fátima Vaz 1, 2, 3
1 Serviço de Oncologia, IPO Lisboa, Lisboa, Portugal; 2 Clínica de Risco Familiar, IPO Lisboa, Lisboa, Portugal; 3 Grupo de Cancro Hereditário da Sociedade Portuguesa de Oncologia, Portugal; 4 Serviço de Oncologia, ULS da Lezíria, Santarém, Portugal; 5 Serviço de Ginecologia, SESARAM, Funchal, Portugal; 6 Clínica de Mama, ULS São João, Porto, Portugal; 7 Serviço de Genética, ULS de Braga, Braga, Portugal; 8 Serviço de Genética, IPO Porto, Porto, Portugal; 9 Serviço de Gastrenterologia, IPO Lisboa, Lisboa, Portugal; 10 Serviço de Oncologia, ULS Alto Ave, Guimarães, Portugal; 11 Serviço de Endocrinologia, IPO Porto, Porto, Portugal; 12 Serviço de Gastrenterologia, SESARAM, Funchal, Portugal; 13 Serviço de Medicina da Reprodução, ULS São João, Porto, Portugal; 14 USF Arca d’Água, ULS São João, Porto, Portugal; 15 Serviço de Oncologia, IPO Coimbra, Coimbra, Portugal; 16 Serviço de Oncologia Médica, ULS São José, Lisboa, Portugal; 17 Associação EVITA - Cancro Hereditário, Portugal; 18 Antiga Diretora Geral da Saúde, Portugal
*Correspondence: Isália Miguel. Email: imiguel@ipolisboa.min-saude.pt
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.
