Sequencing six-year-old Nicholas Volker's genome identified a mutation on his X chromosome that is associated with an immune disorder and could be behind his severe inflammatory bowel disease. While this project done by Medical College of Wisconsin researchers informed Volker's physicians, it was still a research project, reports Technology Review's Emily Singer. However, Howard Jacob, director the Human and Molecular Genetics Center there, says that genome sequencing should be a standard clinical option for children with rare, inherited diseases. To that end, Jacob has developed an infrastructure to handle clinical cases for sequencing. Recently, Singer reports, an unnamed insurance company has said that it will cover genome sequencing when it is shown to be cheaper than the combined number of diagnostic tests that children with rare diseases usually go through.
A Clinical Option
Mar 09, 2011