Published on March 20, 2013 at 1:59 PM
However, making sense of the deluge of data yielded by whole-exome sequencing presents its own challenges. "The average person has tens of thousands of variations from the standard genetic sequence," Hamosh explains, "and we don't know what most of those variations mean." To parse these variations, she says, "one of the things that needs to change is that the lab doing the testing needs to have the whole phenotype, from head to toe." Researchers will then be better equipped to figure out which variations may or may not be relevant to a patient's illness. Another advantage of the database is that it enables colleagues at distant locations — such as Baylor and Johns Hopkins — to securely access the information and collaborate. Hamosh notes that the database enables different users to be afforded different levels of access — for example, a health provider will only be able to see the information he or she has entered — and that information is deidentified to protect patient privacy. In addition, providers must have patients' consent to be included in PhenoDB.
PhenoDB would be useful for any research project that seeks to match genomic information with its phenotypic effects, Hamosh says, and with that in mind, the Baylor-Hopkins Center for Mendelian Genomics has made the PhenoDB software available for free download at http://phenodb.net. She predicts that similar tools will soon be incorporated into electronic health records as well, so that "doctors will have patients' genomic information at their fingertips and can combine that with information about health history, disease symptoms and social situation to practice truly individualized medicine."
Source: Human Mutation paper