Alessia Tognetto1, Roberta Pastorino2, Sergio Castorina3, Daniele Filippo Condorelli4, Andrea DeCensi5, Corrado De Vito6, Antonio Magnano7, Franco Scaldaferri8, Paolo Villari6, Maurizio Genuardi9,10, Stefania Boccia1,11. 1. Sezione di Igiene, Istituto di Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy. 2. Department of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy, roberta.pastorino@unicatt.it. 3. Department of Medical and Surgical Sciences and Advanced Technologies, G.F. Ingrassia, Catania University, Catania, Italy. 4. Section of Medical Biochemistry, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy. 5. Medical Oncology Unit, Galliera Hospital, Genoa, Italy. 6. Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy. 7. UOC Gastroenterologia, AOU Policlinico VE - Catania, Catania, Italy. 8. UOC Medicina Interna, Gastroenterologia e Malattie del Fegato, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. 9. UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. 10. Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy. 11. Department of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Abstract
BACKGROUND: Lynch syndrome (LS) is the most frequent form of hereditary colorectal cancer (CRC; up to 3-5% of the total CRC burden) and predisposes to the development of other cancers. Multidisciplinary diagnostic strategies are relevant both to the index cases and to their at-risk relatives, but their implementation is still limited. Our study aimed to explore LS testing practices in Italy. METHODS: In order to ascertain the current practice of LS diagnosis and management, we conducted a qualitative assessment by sending a questionnaire to health care professionals at 4 Italian hospitals selected as "models" representing different hospital settings. Based on the surveys, we reconstructed the management pathways for CRC patients in terms of diagnostic strategies and health professionals involved. RESULTS: Seven of the 8 invited professionals filled in the questionnaire. Noncompliance with the latest guidelines was reported, as no tumor "screening" was performed on CRC cases. The lack of a structured multidisciplinary team who manages CRC patients from risk assessment to diagnosis and follow-up was reported. The availability of professionals and laboratory technologies differ widely between hospitals. As for cascade testing of at-risk relatives, a systematic and active approach was absent in all the considered hospitals. CONCLUSIONS: Our study shows that no structured and standardized pathways for the diagnosis and management of LS patients are currently in place in Italy. We envisage that by extending our research to further experiences and countries, an increasing awareness of the topic can be translated into a health gain for hereditary CRC patients and their at-risk relatives.
BACKGROUND:Lynch syndrome (LS) is the most frequent form of hereditary colorectal cancer (CRC; up to 3-5% of the total CRC burden) and predisposes to the development of other cancers. Multidisciplinary diagnostic strategies are relevant both to the index cases and to their at-risk relatives, but their implementation is still limited. Our study aimed to explore LS testing practices in Italy. METHODS: In order to ascertain the current practice of LS diagnosis and management, we conducted a qualitative assessment by sending a questionnaire to health care professionals at 4 Italian hospitals selected as "models" representing different hospital settings. Based on the surveys, we reconstructed the management pathways for CRC patients in terms of diagnostic strategies and health professionals involved. RESULTS: Seven of the 8 invited professionals filled in the questionnaire. Noncompliance with the latest guidelines was reported, as no tumor "screening" was performed on CRC cases. The lack of a structured multidisciplinary team who manages CRC patients from risk assessment to diagnosis and follow-up was reported. The availability of professionals and laboratory technologies differ widely between hospitals. As for cascade testing of at-risk relatives, a systematic and active approach was absent in all the considered hospitals. CONCLUSIONS: Our study shows that no structured and standardized pathways for the diagnosis and management of LSpatients are currently in place in Italy. We envisage that by extending our research to further experiences and countries, an increasing awareness of the topic can be translated into a health gain for hereditary CRCpatients and their at-risk relatives.
Authors: Roberta Pastorino; Michele Basile; Alessia Tognetto; Marco Di Marco; Adriano Grossi; Emanuela Lucci-Cordisco; Franco Scaldaferri; Andrea De Censi; Antonio Federici; Paolo Villari; Maurizio Genuardi; Walter Ricciardi; Stefania Boccia Journal: PLoS One Date: 2020-07-01 Impact factor: 3.240