New Genetics Clinical Support Tool in Development

courtesy of Flickr user mujitra

courtesy of Flickr user mujitra

From the National Coalition for Professional Education in Genetics annual meeting, Bethesda, MD.

In Fall 2010, primary care clinicians may get their first really accessible point-of-care clinical decision support tool to help with the diagnosis, treatment, and management of patients with genetic conditions. The tool, a Web site called GeneFacts, aims to provide busy clinicians with “concise, not complete” information about genetic conditions they are searching for in about 2 minutes, said Dr. Leigh LoPresti, a family medicine physician at the Medical College of Wisconsin, Milwaukee, who is working with the National Coalition for Health Professional Education in Genetics (NCHPEG) to create the Web site.

At the NCHPEG annual meeting, Dr. LoPresti presented a rough look at the open-access Web site, which currently houses five single-gene diseases “that we thought would be important in primary care,” including cystic fibrosis, neurofibromatosis-1, and hemochromatosis. GeneFacts will provide guidance on 30-35 diseases when it is launched, “but obviously it has to grow a whole lot from there,” Dr. LoPresti said.

Its content will be coauthored by a non-geneticist provider to ensure its accessibility and a geneticist to ensure its accuracy. In addition to single-gene diseases, GeneFacts will contain information on pharmacogenetics and genetic factors related to common diseases.

Each entry will fill a standard template that houses “key points,” a navigation bar, a body map to show affected areas, and “access buttons” that show only sections that are relevant to a particular situation. The information will be presented in a layered format to click through for greater depth, featuring algorithms, tables for more complex data, an embedded glossary, and links to other resources.

In the meantime, health professionals (and consumers) can judge the value of the content of other medical reference Web sites, brochures, and booklets by using Trust It Or Trash It?, a Web site developed by the Genetic Alliance, NCHPEG, and five other partners. It is funded by the Centers for Disease Control and Prevention.

-Jeff Evans (6:10 p.m. ET, Sept. 25, 2009), @jeffaevans on Twitter

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Filed under Family Medicine, Genomic medicine, Internal Medicine, Medical Genetics, Primary care

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