Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework
Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a number of reasons, including ineffective family communication of genetic risk information. Therefore, alternative strategies are being explored to improve CGT uptake rates; one such s...
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| Veröffentlicht in: | Familial cancer 2025-03, Vol.24 (1), p.9, Article 9 |
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| creator | Varesco, Liliana Di Tano, Francesco Monducci, Juri Sciallero, Stefania Turchetti, Daniela Bighin, Claudia Buzzatti, Giulia Giannubilo, Irene Trevisan, Lucia Battistuzzi, Linda |
| description | Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a number of reasons, including ineffective family communication of genetic risk information. Therefore, alternative strategies are being explored to improve CGT uptake rates; one such strategy is direct contact with at-risk relatives by healthcare professionals with proband consent. It is unclear how Italian laws and regulations pertaining to CGT—including the EU General Data Protection Regulation (GDPR)—should be understood and implemented in the context of such alternative strategies. The authors constructed a hypothetical case about CGT, reviewed laws and regulations on informed consent, privacy, and the right not to know, and analyzed how those laws and regulations might apply to different communicative strategies relevant to the case and aimed at supporting CGT. A constitutionally consistent reading of Italian law and of the GDPR, an integral part of the Italian privacy framework, suggests that multiple communicative approaches may be legally permissible in Italy to support the CGT process. This includes direct contact by healthcare professionals with proband consent, provided certain conditions are met. Understanding the effectiveness of such approaches in improving CGT uptake will require further research efforts. |
| doi_str_mv | 10.1007/s10689-024-00430-y |
| format | Article |
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This includes direct contact by healthcare professionals with proband consent, provided certain conditions are met. 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Di Tano, Francesco ; Monducci, Juri ; Sciallero, Stefania ; Turchetti, Daniela ; Bighin, Claudia ; Buzzatti, Giulia ; Giannubilo, Irene ; Trevisan, Lucia ; Battistuzzi, Linda</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c256t-76798ed18a200a03225532757cc1a42828e85860e3dafbfc14df5234b29a9e803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2025</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Consent</topic><topic>Epidemiology</topic><topic>General Data Protection Regulation</topic><topic>Genetic Counseling - legislation & jurisprudence</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Privacy - legislation & jurisprudence</topic><topic>Genetic screening</topic><topic>Genetic testing</topic><topic>Genetic Testing - legislation & jurisprudence</topic><topic>Health care</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Informed Consent - legislation & jurisprudence</topic><topic>Italy</topic><topic>Medical personnel</topic><topic>Neoplastic Syndromes, Hereditary - diagnosis</topic><topic>Neoplastic Syndromes, Hereditary - genetics</topic><topic>Original Article</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Varesco, Liliana</creatorcontrib><creatorcontrib>Di Tano, Francesco</creatorcontrib><creatorcontrib>Monducci, Juri</creatorcontrib><creatorcontrib>Sciallero, Stefania</creatorcontrib><creatorcontrib>Turchetti, Daniela</creatorcontrib><creatorcontrib>Bighin, Claudia</creatorcontrib><creatorcontrib>Buzzatti, Giulia</creatorcontrib><creatorcontrib>Giannubilo, Irene</creatorcontrib><creatorcontrib>Trevisan, Lucia</creatorcontrib><creatorcontrib>Battistuzzi, Linda</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Familial cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Varesco, Liliana</au><au>Di Tano, Francesco</au><au>Monducci, Juri</au><au>Sciallero, Stefania</au><au>Turchetti, Daniela</au><au>Bighin, Claudia</au><au>Buzzatti, Giulia</au><au>Giannubilo, Irene</au><au>Trevisan, Lucia</au><au>Battistuzzi, Linda</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework</atitle><jtitle>Familial cancer</jtitle><stitle>Familial Cancer</stitle><addtitle>Fam Cancer</addtitle><date>2025-03-01</date><risdate>2025</risdate><volume>24</volume><issue>1</issue><spage>9</spage><pages>9-</pages><artnum>9</artnum><issn>1389-9600</issn><issn>1573-7292</issn><eissn>1573-7292</eissn><abstract>Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a number of reasons, including ineffective family communication of genetic risk information. 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| subjects | Biomedical and Life Sciences Biomedicine Cancer Research Consent Epidemiology General Data Protection Regulation Genetic Counseling - legislation & jurisprudence Genetic Predisposition to Disease Genetic Privacy - legislation & jurisprudence Genetic screening Genetic testing Genetic Testing - legislation & jurisprudence Health care Human Genetics Humans Informed Consent - legislation & jurisprudence Italy Medical personnel Neoplastic Syndromes, Hereditary - diagnosis Neoplastic Syndromes, Hereditary - genetics Original Article |
| title | Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework |
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