Fifty-Hour Whole Genome Sequencing Provides Rapid Diagnosis for Children With Genetic Disorders

At the Children’s Mercy Hospitals and Clinics in Kansas City, a report has been made that critically ill infants can be diagnosed using an entire genome sequence.  The impressive part about this STAT-Seq is that in about 50 hours a patient can have their whole genome sequenced to detect genetoc diseases. This is even more impressive in comparison to current testing that can take more than six weeks just for a single gene sequence.  The software that STAT-Seq uses is programmed to search for 3,500 different genetic diseases, and marks the first time gene sequencing could influence treatment of urgent care patients. As the article states: three percent of all children and 15 percent of childhood hospitalizations are due to genetic disease.  Currently, early treatment can prevent disabilities and life-threatening diseases in 70 of 500 treatable genetic diseases.



There is no comparison between STAT-Seq and the current methods of genome sequencing. The human genome contains as many as 30,000 genes. The current method can code a single gene in about six weeks, where as the STAT-Seq can code the whole genome in about 50 hours.  There are no words to describe the difference between the two methods of sequencing. The ability to detect genetic disorders early creates a multitude of opportunities to benefit the quality of life as a human being. Diseases such as infantile Pompe disease and Krabbe disease can be helped therapeutically from early detection. The unknowns of phenomenons such as Sudden Infant Death Syndrom (SIDS) could potentially be discovered, and prevented with technology like the STAT-Seq. With the convergence of technology and medicine, a shift in personalized medicine can be made. The potential of personalized medicine is limitless, as each disease calls for a different therapeutic approach. In current times, personalized medicine has began to make its mark in the treatment of cancer, as each case is unique.