Internet based family medical history system

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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.