Next-generation sequencing may reduce cost and wait time for some genetic diagnoses: Experts argue that clinical evaluation remains crucial

摘要

Next-generation sequencing (NGS) may speed some genetic diagnoses and save money, but it is a tool best used by an experienced clinician guided by a patient's clinical presentation and previous workup, according to a recent study.That's because geneticists often diagnose inherited conditions without NGS-which includes advanced methods that can retrieve data from hundreds of genes at once-or results from older genetic tests.Researchers from Duke University in Durham, North Carolina did a retrospective review of 500 unselected, consecutive pediatric and adult cases seen at a Duke University Medical Center genetics clinic. Of the 500 patients, 46% were diagnosed by either clinical evaluation alone or an evaluation followed by targeted genetic testing at Duke. An overwhelming majority (72%) of these patients received a diagnosis at their first visit to the clinic, without any genetic testing, write researchers in a recent Genetics in Medicine article [Shashi et al.,2013].