New Insights into Genetic Mechanisms Common to Humans and Simpler Species May Form the Basis for New Diagnostic Tests Performed by Clinical Pathology Laboratories

Scientists participating in the modENCORE study have the goal of understanding the causes of hereditary genetic diseases in humans New discoveries about the interaction of genes and transcription factors in creating different types of RNA will be of interest to pathologists and clinical chemists performing genetic tests and molecular diagnostic assays in their medical laboratories. The goal of this research is to better understand hereditary genetic disease in humans. The new knowledge is...

Geneticist at University of California Davis Sequences His Unborn Baby’s DNA in a Global First for Whole Genome Sequencing

Prenatal genome sequencing raises ethical issues for gene sequencing labs and clinical labs, since a baby’s genetic information may present lifelong consequences for that individual Pathologists and clinical laboratory managers will be interested to learn that another milestone in genetic testing was reached earlier this year. A geneticist at the University of California at Davis, has sequenced the whole human genome of his unborn baby, the first time this feat has been accomplished. Notably,...

Thomas Jefferson University Study Finds Critical Weakness in Commercially Manufactured Exome-Capture Test Kits Used by Some Medical Laboratories

The four exome test kits examined as part of this study failed to deliver quality results, particularly because they often missed some disease-causing mutations altogether Human exome sequencing is gaining favor among medical laboratories wanting to use this information for clinical purposes. However, the accuracy of some exome-capture test kits available on the market today has come under question. A team from the Thomas Jefferson University in Philadelphia surveyed the potential...

Researchers at Columbia University Report How Exome Sequencing Helped Diagnose Patients with Unknown Disorders

More precise diagnoses will encourage pathologists and clinical laboratory professionals to consider using exome sequencing for clinical diagnostic purposes Having sequenced the exomes of 150 patients to diagnose unknown disorders over the past year, physicians at Columbia University (CU) used that information to make decisive diagnoses in one-third of the cases. It is evidence from one of the nation’s pioneering gene-sequencing programs that such data can improve how physicians identify...

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...