Background: Hereditary cancer syndromes (HCS) account for nearly 10% of cancers, although they are often underdiagnosed. The rapid development of genetic technologies and the use of genetic information in clinical decision-making require increased involvement of surgeons, oncologists and other health professionals in appropriate referral of patients to genetic services for genetic counselling and testing. Genetic testing and counselling for HCS can improve outcomes for patients and their at-risk relatives by informing cancer surveillance, prevention, screening strategies and treatment, as well as reproductive decision-making. Aims: The studies published in Pubmed in the last 5 years identifiable through the keywords: "Genetic Counselling" AND "Hereditary Cancer" were examined with the aim of verifying the perception of health professionals, patients and family members at risk regarding the usefulness of genetic counseling in the oncogenetic field and to recover models/protocols that are easy to apply on a large scale by non-geneticists as first screening Results: The 53 records found contain useful suggestions for the identification of specific hereditary cancer syndromes. Two papers propose a specific questionnaire to assess familial risk by direct administration to patients. These data, together with the knowledge and concerns of health professionals, are proposed for discussion. Conclusions: The limited data available in the literature on how to raise awareness among patients, family members at risk, and health professionals of the need to detect genetically determined cancers underscores the need to develop intervention models to be tested in individual territories, "tailored" to the demographic, cultural, and epidemiological characteristics of those territories.

Genetic counselling for cancer disease in the era of personal genomics

Marchina Eleonora
2024-01-01

Abstract

Background: Hereditary cancer syndromes (HCS) account for nearly 10% of cancers, although they are often underdiagnosed. The rapid development of genetic technologies and the use of genetic information in clinical decision-making require increased involvement of surgeons, oncologists and other health professionals in appropriate referral of patients to genetic services for genetic counselling and testing. Genetic testing and counselling for HCS can improve outcomes for patients and their at-risk relatives by informing cancer surveillance, prevention, screening strategies and treatment, as well as reproductive decision-making. Aims: The studies published in Pubmed in the last 5 years identifiable through the keywords: "Genetic Counselling" AND "Hereditary Cancer" were examined with the aim of verifying the perception of health professionals, patients and family members at risk regarding the usefulness of genetic counseling in the oncogenetic field and to recover models/protocols that are easy to apply on a large scale by non-geneticists as first screening Results: The 53 records found contain useful suggestions for the identification of specific hereditary cancer syndromes. Two papers propose a specific questionnaire to assess familial risk by direct administration to patients. These data, together with the knowledge and concerns of health professionals, are proposed for discussion. Conclusions: The limited data available in the literature on how to raise awareness among patients, family members at risk, and health professionals of the need to detect genetically determined cancers underscores the need to develop intervention models to be tested in individual territories, "tailored" to the demographic, cultural, and epidemiological characteristics of those territories.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/623286
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