Lessons Learned in Establishing a Clinical Sequencing Lab

In 2009, the Medical College of Wisconsin (MCW; Milwaukee) became one of the first in the nation to utilize whole-genome sequencing (WGS) for clinical, diagnostic purposes in patients unsuccessfully resolving diagnostic odysseys. In an invited commentary published July 17 in Science Translational Medicine, the founders of MCW’s Human and Molecular Genetic Center (HMGC) discuss lessons learned in converting a sequencing laboratory designed for research into a clinical program. They offer guidance regarding the practical, technological, economical, and ethical considerations that other laboratories planning their entry into clinical WGS and whole-exome sequencing must address. The genomics medical clinic successfully sequenced and diagnosed its first patient in 2009 in collaboration with Children’s Hospital of Wisconsin and Froedtert Hospital. However, the seed was planted for opening a clinical sequencing laboratory back in 2004 when Howard Jacob, Ph.D., HMGC’s director, and colleagues undertook a $100 million, two-year project to sequence a rat genome. Noting the significant improvement in sequencing efficiency from the $1 billion, 10-year human genome sequence, Jacob and colleagues thought it would be reasonable to assume that genome sequencing would be in the clinic by 2014, he tells DTTR. “Our clinical program is built around the principal idea that making a diagnosis […]