Marshfield Clinic Research Institute Part of A Study on Genetic Diseases
Tuesday, March 20th, 2018 -- 8:02 AM
-Over a lifetime, a person may experience a wide variety of symptoms and diseases.Any one of these conditions by themselves may seem like an everyday event from a doctor’s perspective. When considering these symptoms and diseases together, it may be an indication of a more sinister ailment that is influenced by genetics but less obvious to the doctor. Marshfield Clinic Research Institute and data from Marshfield Clinic’s biobank were part of a study that developed a computer-based method to search patient medical records to understand the possible impact of genetic diseases on health. More specifically, medical histories hidden within patient electronic health records may hold the key to diagnosing rare genetic diseases that are misdiagnosed as more common ailments such as heart or kidney disease, according to research published last week in the journal, Science.
Authors used clusters of symptoms to create a “phenotypic risk score” for many different genetic diseases. Those risk scores were then calculated and combined with genetic information collected from de-identified individuals and electronic health records from Vanderbilt University and Marshfield Clinic. It was hypothesized that individuals with high risk scores may have a genetic disorder; those with low scores were less likely to have a genetic disease. Researchers found 18 relationships between genetic variants and high phenotypic risk scores.
Feel free to contact us with questions and/or comments.