Views of Privacy of Genetic Information

越来越多的个人遗传信息引发了一系列关于隐私和机密性的关键问题，这些问题尚未得到充分探讨。计算机、互联网和管理医疗的兴起都威胁到个人健康信息的隐私；人类基因组测序使这些问题变得尤为尖锐。共享遗传信息可能会导致污名、歧视和对就业、生命和医疗保险的威胁。前总统克林顿发布了隐私法规，一些州也制定了基因隐私法，但仍存在许多问题和争议。这种保障措施的实施仍不清楚，患者权益倡导者认为需要进一步的政策。目前还不清楚隐私问题和此类法规可能如何影响行为(例如，参与基因测试)，以及新的保障措施将在多大程度上缓解患者的担忧。关键是要了解患者对隐私的基本概念、观点和方法，以及对隐私的政策和威胁，以及这些观点中涉及的因素。然而，关于这些问题，还没有发表的研究深入调查面临遗传病的个人的观点和经历。因此，这项研究的目的是：1)探讨有遗传疾病风险或患有遗传疾病的个人对隐私问题的看法，涉及遗传和其他健康信息的隐私、对隐私的威胁、可能的政策，以及分享遗传信息(例如，用于研究)可能产生的隐私和利益之间的权衡；2)探索这些个人关于隐私和披露的经验--他们向他们披露他们面临遗传病(例如，向卫生保健专业人员、家庭成员、同事、雇主和保险公司)；何时、为什么以及他们披露了什么；他们遇到了什么反应(例如，耻辱和歧视)；以及他们如何看待和作出这些隐私和披露决定；3)探索这些隐私观与健康行为的关系(例如，推迟或避免诊断测试或治疗)；以及4)评估遗传或其他疾病的类型，或其他因素可能如何影响这些观点和体验。我们将对160名受试者进行深入的半结构化访谈，每组40人，他们患有亨廷顿病、遗传性乳腺癌、α1抗胰蛋白酶缺乏症，并作为对照组，患有冠状动脉疾病。我们之所以选择这些疾病中的前3种，是因为我们的试点工作表明，所有3种遗传病都会出现严重的隐私问题，但它们与这些疾病的不同方面有关。这项研究的结果可以促进进一步的政策、专业和公共教育，以及未来在这一领域的研究。

The increasing availability of genetic information on individuals raises a series of critical questions concerning privacy and confidentiality that have not been fully explored. The rise of computers, the Internet, and managed care all threaten the privacy of individuals' health information; and the sequencing of the human genome makes these issues particularly acute. Sharing genetic information may lead to stigma, discrimination, and threats to jobs and life and health insurance. Former President Clinton released privacy regulations, and some states have genetic privacy laws, yet numerous questions and controversies remain. The implementation of such safeguards remains unclear, and patient advocates feel further policies are needed. It is also unclear how privacy concerns and such regulations may affect behavior (e.g., participation in genetic testing) and to what degree new safeguards will allay patient concerns. It is critical to understand patients' underlying conceptions, views and approaches to privacy, and to policy and threats to privacy, and factors involved in these views. Yet no published research has investigated in-depth the perspectives and experiences of individuals confronting genetic diseases, concerning these issues. The aims of this study are thus 1) to explore views of privacy issues among individuals who are at risk of or have genetic disorders concerning privacy of genetic and other health information, threats to privacy, possible policies, and tradeoffs between privacy and benefits that might accrue from sharing genetic information (e.g., for research); 2) to explore the experiences of these individuals concerning privacy and disclosure - to whom they have disclosed that they confront a genetic disease (e.g., to health care professionals, family members, co-workers, employers, and insurance companies); when, why and what they disclosed; what reactions (e.g., stigma and discrimination) they have encountered; and how they view and make these privacy and disclosure decisions; 3) to explore the relationship of these views of privacy to health behaviors (e.g., delaying or avoiding diagnostic tests or treatment); and 4) to assess how type of genetic or other illness, or other factors may affect these views and experiences. We will conduct in-depth semi-structured interviews with 160 individuals -40 each who confront Huntington's Disease, genetically-linked breast cancer, alpha 1 antitrypsin deficiency, and, as a comparison group, coronary artery disease. We have chosen the first 3 of these disorders because our pilot work suggests that critical privacy concerns arise with all 3 of these genetic diseases, but are related to different aspects of these conditions. The findings of this study can enhance further policy, professional and public education, and future research in this area.