Views of Privacy of Genetic Information

个人遗传信息的可得性日益增加，提出了一系列关于隐私和保密的关键问题，这些问题尚未得到充分探讨。计算机、互联网和管理式医疗的兴起都威胁着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严重。共享遗传信息可能导致耻辱、歧视，并威胁到工作、生命和健康保险。前总统克林顿发布了隐私法规，一些州有基因隐私法，但仍有许多问题和争议。这些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将如何影响行为（例如，参与基因检测），以及新的保障措施将在多大程度上减轻患者的担忧。了解患者对隐私、隐私政策和隐私威胁的潜在概念、观点和方法，以及这些观点所涉及的因素是至关重要的。然而，没有发表的研究深入调查了面对遗传疾病的个人在这些问题上的观点和经历。因此，本研究的目的是：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，涉及遗传信息和其他健康信息的隐私、对隐私的威胁、可能的政策，以及隐私与共享遗传信息（例如，用于研究）可能产生的利益之间的权衡；2)探索这些人在隐私和披露方面的经历——他们向他们透露自己患有遗传病（例如，向保健专业人员、家庭成员、同事、雇主和保险公司）；披露的时间、原因和内容；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做出这些隐私和信息披露的决定；3)探讨这些隐私观与健康行为（例如，延迟或避免诊断测试或治疗）的关系；4)评估基因或其他疾病的类型，或其他因素如何影响这些观点和经验。我们将对160人进行深入的半结构化访谈，其中40人患有亨廷顿氏病，遗传相关乳腺癌，α 1抗胰蛋白酶缺乏症，作为对照组，冠状动脉疾病。我们选择了前三种疾病，因为我们的试点工作表明，这三种遗传疾病都存在关键的隐私问题，但与这些疾病的不同方面有关。本研究的研究结果可以进一步促进该领域的政策、专业和公众教育，以及未来的研究。

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.