Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2024-11-20 DOI:10.1007/s10689-024-00430-y

Liliana Varesco, Francesco Di Tano, Juri Monducci, Stefania Sciallero, Daniela Turchetti, Claudia Bighin, Giulia Buzzatti, Irene Giannubilo, Lucia Trevisan, Linda Battistuzzi

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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. 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.

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遗传性癌症的级联基因检测：探索意大利法律框架的界限。

遗传性癌症综合征中的级联基因检测（CGT）尽管具有临床价值，但仍未得到充分利用，原因有很多，其中包括遗传风险信息的家庭沟通效果不佳。因此，人们正在探索其他策略，以提高基因检测的利用率；其中一种策略是在征得原告同意的情况下，由医护人员直接联系高风险亲属。目前尚不清楚如何理解和实施与 CGT 相关的意大利法律法规，包括欧盟《通用数据保护条例》（GDPR）。作者构建了一个有关 CGT 的假设案例，回顾了有关知情同意、隐私和知情权的法律法规，并分析了这些法律法规如何适用于与案例相关的、旨在支持 CGT 的不同传播策略。对意大利法律和 GDPR（意大利隐私权框架的组成部分）的宪法性解读表明，意大利法律可能允许采用多种沟通方式来支持 CGT 程序。这包括在满足某些条件的前提下，由医疗保健专业人员在征得遗嘱人同意的情况下进行直接联系。要了解这些方法在提高 CGT 使用率方面的有效性，还需要进一步的研究工作。

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来源期刊

Familial Cancer 医学-遗传学

CiteScore

4.10

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.