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,...

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...

Clinical Pathology Laboratories Should Be Aware of New Malpractice Risks from Genetic Testing

Some medical laboratories may be exposed to malpractice suits involving prenatal genetic testing associated with “wrongful birth” claims Genetic testing is creating a new source of medical malpractice liability and early cases have generated substantial settlements for the plaintiffs. Any clinical laboratory organization or pathologist involved in genetic testing should pay serious attention to this emerging field of malpractice law. In particular, the media is reporting on malpractice...

Clinical Pathology Labs Are on Track to Get New Genetic Test That Screens for 448 Rare Childhood Diseases

Rapid gene sequencing technology will give medical laboratories a new diagnostic tool Rapidly-evolving molecular diagnostics technology is about to trigger a major expansion in pre-conception genetic testing. In turn, this could benefit clinical laboratories and pathology groups as they begin to offer these genetic tests to help prospective parents screen their DNA for recessive gene mutations that cause 448 deadly childhood diseases in offspring. This breakthrough medical laboratory test...
;