Internet based family medical history system

基于互联网的家族病史系统

• 批准号: 7152173
• 负责人: DAVID W STOCKTON
• 金额: $ 5.04万
• 依托单位: WAYNE STATE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-09-01 至 2008-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7152173
• 关键词: Internet; case history; clinical research; data collection methodology /evaluation; family genetics; health services research tag; human subject

DESCRIPTION (PROVIDED BY APPLICANT): It is widely acknowledged that there is a significant genetic component to health and disease. With the completion of the Human Genome Project, advances in our understanding of human and model organisms will lead to advances in health care. In the clinical setting, a detailed family medical history is the primary view into inherited risk for disease. This will likely be augmented in the near future by more generalized molecular screening tests for risk factors or disease predispositions. Collecting a family medical history should be considered like any other medical test; the history is obtained and its results provide information about the disease risks of the patient. Like any test, it has associated sensitivity and specificity for detecting disease risks, and there will be false positives and false negatives. Additionally, the interpretation of the family history is far more complicated than most clinically available tests. Therefore, getting the most accurate family medical history is the critical first step to ensure that interpretations and inferences drawn from these data are reliable. To provide access to and delivery of high quality, high value health care, the family medical history needs to be assessed in the primary care setting. This imposes a significant burden on the primary care system. In a genetics practice, collecting a detailed three or four generation family medical history is routine but can take a significant amount of time. Frequently, the time needed to gather the family history alone is as long or longer than a routine primary care visit. The accuracy of the family history obtained is dependent on the knowledge of the patient present in the clinic session and the time and effort expended questioning him or her. For major medical problems or procedures in first-degree relatives, this is likely reliable; but, for more distant relatives and for less significant medical issues the sensitivity and specificity of the responses decrease. Analysis of error rates in family history data is important for proper evidence based medical care. This proposal aims to: 1) determine the accuracy of a family medical history obtained by a board certified geneticist or genetic counselor in a single clinic encounter; 2) develop an Internet based family medical history collection system capable of collecting the level of detailed information a geneticist routinely would collect; and 3) assess its accuracy compared to a clinician obtained history. Secondary measures will be planned to assess the ability of an automated family medical history system to shorten the encounter time in a genetics clinic visit, and establish a family medical data central repository. Future directions can evaluate primary care use, automated risk assessment, and explore opportunities to link willing potential research subjects with researchers.

描述（申请人提供）：人们普遍认为，健康和疾病有一个重要的遗传因素。随着人类基因组计划的完成，我们对人类和模式生物的理解的进步将导致医疗保健的进步。在临床上，详细的家族病史是了解疾病遗传风险的主要依据。在不久的将来，这可能会通过更广泛的危险因素或疾病倾向的分子筛查试验来增强。收集家族病史应该像任何其他医学检查一样考虑;获得病史，其结果提供有关患者疾病风险的信息。像任何测试一样，它具有检测疾病风险的相关敏感性和特异性，并且会出现假阳性和假阴性。此外，对家族史的解释比大多数临床可用的测试复杂得多。因此，获得最准确的家族病史是确保从这些数据中得出的解释和推断是可靠的关键的第一步。 为了提供高质量、高价值的医疗保健，需要在初级保健环境中评估家族病史。这给初级保健系统带来了沉重的负担。 在遗传学实践中，收集详细的三代或四代家族病史是常规，但可能需要大量时间。通常，仅收集家族史所需的时间与常规初级保健访问一样长或更长。获得的家族史的准确性取决于患者在门诊中的知识以及询问他或她所花费的时间和精力。对于一级亲属的重大医疗问题或程序，这可能是可靠的;但是，对于更远的亲属和不太重要的医疗问题，反应的敏感性和特异性降低。分析家族史数据的错误率对于正确的循证医学护理是重要的。 该提案旨在：1）确定委员会认证的遗传学家或遗传咨询师在一次诊所就诊中获得的家族病史的准确性; 2）开发基于互联网的家族病史收集系统，能够收集遗传学家常规收集的详细信息水平;和3）与临床医生获得的历史相比，评估其准确性。 将计划采取次要措施，评估自动化家族病史系统缩短遗传学诊所就诊时间的能力，并建立一个家庭医疗数据中央储存库。 未来的方向可以评估初级保健的使用，自动化的风险评估，并探索机会，愿意潜在的研究对象与研究人员联系起来。