In the October issue of the journal Science Translational Medicine, Children’s Mercy researchers reported a proof-of-concept process, called STAT-Seq®, which used whole genome sequencing to diagnose critically ill infants. STAT-Seq uses software developed at Children’s Mercy, which translates physician-entered clinical features in individual patients into a comprehensive set of relevant diseases. This software substantially automates identification of the DNA variations that can explain the child's condition. The entire process – from blood draw to genome sequencing, analysis and diagnosis – took approximately 50 hours. Before STAT-Seq, testing even a single gene took six weeks, often longer.
“Fifty hours. That’s how long it now takes to decode and interpret a newborn baby’s genome — an undertaking that used to take weeks or even months,” TIME reported in its 'Top 10 Medical Breakthroughs of 2012.' “And those two days can mean the difference between life and death for a critically ill infant.” The rapid genome mapping test is #7 on TIME’s list.
“This test changed the paradigm for genetic sequencing and diagnosis. With the ability to decode a genome from start to finish in about two days, physicians can now rapidly apply all the appropriate medical innovations available to help those babies who need their care the most,” said Stephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, Director of the Center for Pediatric Genomic Medicine at Children’s Mercy. “Children’s Mercy is extremely proud to be recognized by TIME for this breakthrough technology and we are excited about the benefit it will have in the care setting moving forward.”
The Center plans to make STAT-Seq a routine test at Children’s Mercy by next year. It is currently working at capacity to analyze data from patients at Children’s Mercy as well as from other pediatric institutions across the United States and around the world. The Center is currently seeking additional funding to make the test as accessible as possible and meet the high demand.
Editor's note: Other notables for 2012 include: fighting acne with a virus, creating egg cells in mice using stem cells, gaining a better understanding of what genetically drives pediatric tumors, changes in the way doctors treat breast cancer, using early behavior therapy for reversing autism, fashioning a trachea using stem cells and the further success of regenerative medicine, the use of Truvada (two antivaral meds) ward off HIV in healthy people, and recognizing that the vast 98% of the human genome that does not code for genes, these previously insignificant portions of DNA are the true masterminds, or metabolic switches that regulate how and when genes function.
In 2011 TIME notables included the use of cloning to create stem cells, creating a first-ever malaria vaccine, using drugs to treat HIV as prevention tool, changing the government's food pyramid into a plate of healthy foods, the creation of real body parts in a lab, finding a link between bacteria and colon cancer, the use of the drug Qnexa and weight loss, using dogs to detect the presence of cancer on a person's breath thorough their keen sense of smell, determining the age of a dead person by the genetic material in their saliva and checking for higher levels of an enzyme called cathepsin S to determine a person's odds of dying of cancer and heart disease.