Response of a Sample Population with the Deleterious HD allele RESPOND-HD

描述（由申请人提供）：这项名为“具有有害亨廷顿舞蹈病等位基因的样本人群的反应”（Response -HD）的研究将检查可能影响亨廷顿舞蹈病（HD）基因检测后患者经历的伦理、法律和社会因素。HD是一种遗传性脑部疾病，通常始于中年。由于HD的预测测试是最早可用于晚发性疾病的基因测试之一，因此HD的研究传统上有助于确定遗传疾病的伦理、法律和社会方面的问题。随着人类基因组知识的增加，公众对使用这种遗传信息的担忧也相应增加。尽管医学实践标准通常要求医疗保健决策（包括基因检测）应由患者的个人价值观决定，但很难评估如何充分告知消费者预测性检测。考虑进行基因检测的人所了解的信息应包括基因检测的临床有效性、有效治疗的可得性、获得保健和保险的机会、基因信息的法律和社会影响，以及了解自己未来的心理影响。不幸的是，目前基因检测对这些问题知之甚少。特别是HD家庭，他们适当地关注被认定患有遗传疾病的社会和法律后果。在本研究中，将通过调查和标准化评分量表对接受HD基因扩增预测测试的个体进行比较定性访谈和定量数据收集。与之前的研究不同，response样本在过去已经进行了预测测试，并且数据将允许在收到具有有害HD等位基因的消息后查询污名化和歧视。研究结果将检查人们如何感知可能的后果，选择他们的行为，并在基因检测后做出决定。数据可用于临床护理实践，研究方案和法律政策的发展。将邀请来自国家卫生研究院资助的题为“预测- hd”的研究的300多名人员参加这项研究。Predict-HD是一项正在进行的研究，旨在研究已知HD基因扩增患者的疾病生物学和行为标志物。数据将与nhgri资助的名为“PHAROS”的研究进行比较，该研究对有患HD风险但选择不进行基因检测的人进行检查。这项研究将是第一个比较已知遗传风险的伦理、法律和社会经验的研究。

DESCRIPTION (provided by applicant): This study entitled "Response of a Sample Population with the Deleterious HD allele" (RESPOND-HD) will examine ethical, legal, and social considerations that may affect the experience of persons following genetic testing for Huntington's disease (HD). HD is a genetic brain disease that typically begins in mid-life. Since predictive testing for HD was one of the first genetic tests available for later onset disorders, research in HD has traditionally helped define issues for ethical, legal and social aspects of genetic disorders. As knowledge of the human genome increases, public apprehension concerning the use of such genetic information has grown correspondingly. Although practice standards in medicine generally require that health care decisions (including genetic testing) should be determined by a patient's personal values, it is difficult to assess how to fully inform consumers about predictive testing. Information understood by persons considering having a genetic test should include the clinical validity of genetic tests, availability of effective treatment, access to health care and insurance, legal and social implications of genetic information, and the psychological impact of having knowledge about one's future. Unfortunately, little is currently known about these issues following genetic testing. HD families, in particular, are appropriately concerned about social and legal consequences of being identified with a genetic illness. In this study, comparative qualitative interviews and quantitative data collection via survey and standardized rating scales will be obtained from individuals who have undergone predictive testing for the HD gene expansion. Unlike previous research, the RESPOND sample has undergone predictive testing in the past and data will allow for query of stigmatization and discrimination since receiving news of having a deleterious HD allele. Findings will examine how people perceive possible consequences, choose their behaviors, and make decisions after genetic testing. Data can be used for development of clinical care practices, research protocol, and legal policy. Over 300 persons from the NINDS-funded study entitled "Predict-HD" will be invited to participate in this study. Predict-HD is an ongoing study of biological and behavioral markers of disease in persons with a known gene expansion for HD. Data will be compared with the NHGRI-funded study entitled "PHAROS" which examines persons who are at risk for HD but chose not to undergo genetic testing. This study will be among the first to compare ethical, legal and social experiences of having known genetic risk.