July 16, 2015
An article published in Genetics in Medicinehas described the problems faced by the rampant implementation of next-generation sequencing (NGS) technology and the current limitation in variant interpretation capabilities. The authors emphasise that offering NGS as either “stand-alone or first-choice diagnostic approaches” may not be advisable before its full potential is addressed. The authors thus propose an algorithm to help clinicians opt for the most appropriate molecular diagnostic tool for each scenario. This testing algorithm, provided in the form of a flow diagram in the paper, may help increase the clinical sensitivity of molecular testing and reduce the overall testing cost and time to a diagnosis for patients.