This is an ongoing (from 01/05/2006) PhD project at the Department of Computer Science and the National Institute for Health Innovation. It is supervised by Prof. Jim Warren and Dr. Alexei Drummond.
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This is an ongoing (from 01/05/2006) PhD project at the Department of Computer Science and the National Institute for Health Innovation. It is supervised by Prof. Jim Warren and Dr. Alexei Drummond. |
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The mission statement of the Human Genome Variation Society (HGVS) identifies the aim of human genetic (or genomic) variation (HGV) studies as “to enhance human health through identification and characterization of changes in the genome that lead to susceptibility to illness”. HGV research has centuries of history in medical science as medical practitioners observed hereditary diseases – such as Hemophilia and heart diseases. The accurate testing of HGV developed significantly since the sequencing of CFTR protein (with defects in it causing cystic fibrosis) in 1989. In October 2004, the total count of human genes was estimated as 20,000 to 25,000. In the healthcare setting, genetic services test and interpret HGV of patients and/or families who are referred by a medical geneticist or a genetic counselor or a primary/specialty care provider. Clinical HGV tests include diagnostic tests, predictive tests, carrier tests, prenatal tests, pre-implantation tests and newborn screening. The test results and the information gained from family history and physical examination can be used to diagnose medical conditions, to assist in reproductive decision making, to predict future health risk and to suggest treatment in patient care. Research-oriented HGV testing is used to better understand genetic conditions or develop clinical tests. In order to improve the capture and dissemination of knowledge from routine HGV research activities to contribute to the global genetics knowledgebase, this HGV-KM project is applying organizational Knowledge Management theories in the HGV research and practice processes.