Whole-Genome Sequencing, Aided by Bioinformatics Analytical Software, Offers Quick, Accurate Test for Diagnosing Diseases Caused by Single-Gene Mutations

A new approach to genetic testing of critically ill children, developed by researchers at Children’s Mercy Hospital, can be a road map other medical laboratories can follow  

In Kansas City, a medical team at Children’s Mercy Hospital has demonstrated that rapid whole human genome sequencing, when combined with interpretative software, can return clinically actionable answers quickly enough to be of value to physicians who are diagnosing patients showing symptoms of genetic conditions.

As many pathologists and clinical laboratory managers know, childrens’ hospitals across the nation are often at the vanguard of using molecular diagnostics and genetic tests to guide diagnosis and treatment of pediatric patients. Having the capability to make fast and accurate diagnoses of genetic conditions gives physicians at these institutions the ability to significantly improve the outcomes of their patients.

A report published by Medpagetoday.com reported the findings of researchers at Children’s Mercy Hospital. (more…)