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

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]. Obtaining a genetic diagnosis for a patient who had to return for subsequent visits cost them an estimated $25,000, a figure that includes genetic tests [Shashi et al., 2013]. An earlier study of a wholeexome sequencing (WES) pilot program conducted at Duke produced a diagnostic yield of 50% [Need et al., 2012]. Shashi et al referred to that study to estimate that using NGS after the first clinical visit could save about $5,000 per patient. While the current paper stresses these cost savings, it also emphasizes the importance of geneticists’ clinical skills. “Any test, including next-generation sequencing, is only as good as the clinician ordering and interpreting it,” says the study’s co-author and genetic counselor Allyn McConkie-Rosell, PhD, Associate Research Professor at Duke University School of Medicine in Durham, North Carolina.