Internet based family medical history system

描述（由申请人提供）：人们普遍认为，健康和疾病有重要的遗传因素。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。在临床环境中，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，对危险因素或疾病倾向进行更广泛的分子筛选测试可能会加强这一点。收集家族病史应被视为任何其他医学检查；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，它在检测疾病风险方面具有相关的敏感性和特异性，并且会出现假阳性和假阴性。此外，家族史的解释比大多数临床可用的测试要复杂得多。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论是可靠的关键的第一步。

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.