The Comparative Effectiveness of Whole Genome Sequencing

A national study conducted across six centers in the United States of America. The panel return results on average in 4.2 days, whereas whole genomic sequencing took 6.1 days. Whole genomic sequencing was able to diagnose 49% of those infants who were found to have a variant of significance that was either pathogenic or believed to be causative. Panel could only diagnose 27%. So what we found was, while it was true, the panel could be a quicker turnaround and diagnostic yield was compromised.