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Researchers Find Whole Genome Sequencing Not Yet Up to Clinical Standards

The Associated Press reports on a new study published in JAMA that has questioned the efficiency and clinical applicability of whole genome sequencing (WGS). Researchers performed WGS on 12 healthy individuals “to examine coverage and concordance of clinically relevant genetic variation provided by WGS technologies.” Researchers reported that even after days of sophisticated follow-up and lab tests they found “incomplete coverage of inherited disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings.” Experts say they “have to be really honest about where we are in order to bring it up to clinical standards.”

Read the article published by the Associated Press.

Read the study in JAMA.