Worldwide Study Demonstrates Accuracy of Genomic Sequencing

Physicians envision a future in which genomic data from patients is heavily used to manage care — but experts have questioned the accuracy and reliability of these analyses. Now, a study by 150 researchers in 12 countries finds real strength and agreement across RNA genomic sequencing techniques and laboratories — as well as ways to improve what little variability exists to set a new high standard. The results of the study were published in Nature Biotechnology in three separate research articles. These results should provide assurance to patients, clinicians and the research community that genomic sequencing is accurate, says E. Aubrey Thompson, Ph.D., a professor of cancer biology at the Mayo Clinic in Florida, one of three institutions that led the study. Dr. Thompson is a study co-author and member of the project leadership. "It seems very likely that decisions about patient care are going to be influenced by genomic data, derived from sequencing both RNA and DNA from patient samples, and we now know the extent to which these sequence-based analyses can be relied upon within a given laboratory or from laboratory to laboratory," he says. "That means that results of a patient's sample, from which clinical management decisions will likely be made, will be accurate worldwide," says Dr. Thompson. RNA sequencing is being used with increasing frequency to characterize a growing array of conditions — everything from prenatal birth defects to disorders of the elderly. The other institutions involved in the study are the Beijing Genomic Institute and Weill Cornell Medical School. All three institutions have extensive experience in sequencing RNA and have helped develop novel analytical tools for interpreting the data. The U.S.
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