Keeping Up With the Next Generation: Massively Parallel Sequencing in Clinical Diagnostics

摘要: The speed, accuracy, efficiency, and cost-effectiveness of DNA sequencing have been improving continuously since the initial derivation technique in mid-1970s. With advent massively parallel technologies, costs dramatically reduced. No longer is it unthinkable to sequence hundreds or even thousands genes a single individual with suspected genetic disease complex predisposition. Along benefits offered by these technologies come number challenges that must be addressed before wide-scale becomes accepted medical practice. Molecular diagnosticians will need become comfortable with, gain confidence in, new platforms, which are based on radically different compared standard sequencers routine use today. Experience determine whether instruments best applied versus resequencing. Perhaps most importantly, along increasing read lengths inevitably comes increased ascertainment novel variants uncertain clinical significance, postanalytical aspects could bog down entire field. But despite obstacles, as direct result promises advances present, likely not long next-generation begins make an impact molecular medicine. In this review, technical issues discussed, addition practical considerations push toward personal genome sequencing.