Whole-Genome Sequencing: Ready for Prime Time?

[摘要] Rapid technological advances in DNA sequencing are facilitating the perception that whole-genome sequencing (WGS) will soon be available as a routine clinical diagnostic—and predictive—test. Current clinical testing is typically diagnostic, focusing on single genes or small gene panels, identifying a small number of variants per patient, and yet requiring nontrivial effort and expertise to deliver a clinical laboratory report. Interpreting WGS results will increase the necessary effort exponentially. How will this work in actual practice?In a recent Science Policy Forum (1), Radoje Drmanac promotes WGS as a research tool that will enhance disease diagnosis, prevention, and management by providing a more “comprehensive” method of genetic testing. WGS is touted as better for assessing disorders that have an apparent genetic etiology but that are not amenable to current methods, including those caused by noncoding variants, interaction between multiple variants across the genome, or variants in regulatory regions. Unfortunately, our current level of understanding precludes a clinical interpretation of most noncoding variants.Beyond …

[学科分类] 过敏症与临床免疫学