Department of Health Sciences, University of Genoa, Genoa, Italy Clinical Genetics Unit, Galliera Hospital, Genoa, Italy.
Clin Genet. 2012 Sep;82(3):205-9. doi: 10.1111/j.1399-0004.2012.01935.x. Epub 2012 Jul 27.
Communication of genetic risk is a complex process in which the rights of the individual and those of relatives may conflict with regard to the information revealed by DNA testing. If patients who participate in clinical genetic testing refuse to share their genetic information with at-risk relatives, healthcare professionals need to reach a proper ethical balance between the right of individual patients regarding the confidentiality of their genetic test result and the right of families to be informed about their genetic risk. Rules and legislation in most countries generally protect the confidentiality of medical information but allow limited disclosure of genetic test results without the patient's consent in specific cases when certain conditions are met. The aim of this article is to draw attention to how Italian policymakers have attempted to balance protection of autonomy and confidentiality, and protection of health by means of a hybrid instrument. Furthermore, we show that some of the requirements of that instrument depart from the most widely recognized standards for non-consensual disclosure of genetic risk information, while at the same time allowing an unusually high level of discretion to healthcare professionals involved in genetic counseling and testing.
遗传风险沟通是一个复杂的过程，在此过程中，个体的权利和亲属的权利可能会因 DNA 测试所揭示的信息而产生冲突。如果参与临床基因检测的患者拒绝与有风险的亲属分享他们的遗传信息，医疗保健专业人员需要在个体患者对其基因检测结果保密的权利和家庭了解其遗传风险的权利之间取得适当的伦理平衡。大多数国家的规则和立法通常都保护医疗信息的保密性，但允许在特定情况下，在满足某些条件的情况下，在未经患者同意的情况下，有限披露基因检测结果。本文旨在提请注意意大利政策制定者如何试图通过混合工具来平衡保护自主权和保密性，以及保护健康。此外，我们还表明，该工具的某些要求偏离了最广泛认可的非自愿披露遗传风险信息的标准，同时允许参与基因咨询和检测的医疗保健专业人员拥有异常高的酌处权。
