Dec 1, 2014 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
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 based on studies of the common fruit fly, or Drosophila melanogaster (D. Melanogaster), and to a lesser extent a tiny worm Caenorhabditis elegans (C. elegans). Both have been used as research models to study the human condition.
Research Could Give Pathologists New Diagnostic Tools (more…)
Nov 12, 2014 | Digital Pathology, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
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, it was geneticist and graduate student Razib Khan of the UC Davis School of Veterinary Medicine who sequenced his unborn son’s genome during the third trimester of pregnancy using a sample of the fetus’ placenta. This is the first healthy person born in the United States with his entire genetic makeup deciphered prior to birth, noted a recent story published by the MIT Technology Review. (more…)
Nov 27, 2013 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
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…)
Jul 25, 2012 | Compliance, Legal, and Malpractice, Digital Pathology, Laboratory News, Laboratory Operations, Laboratory Pathology
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 lawsuits that involve prenatal genetic testing that was performed on behalf of parents who were attempting to determine the possibility of serious inheritable diseases in their unborn children.
In these cases, parents of a child born with a debilitating—and frequently financially-devastating—disease that could have been detected by accurate genetic testing are suing their healthcare providers, including medical laboratories. These plaintiffs claim that, through inaccurate genetic testing or lack of available testing, they were denied the choice of terminating a pregnancy that tested positive for serious inherited disease. (more…)
Mar 23, 2011 | Digital Pathology, Laboratory News, Laboratory Pathology
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 delivers two important benefits. First, as a universal carrier screening test, this multiplex assay greatly expands the number of diseases that can be screened at one time. Second, its next-generation sequencing (NGS) technology dramatically reduces the cost of genetic sequencing. Instead of thousands of dollars, this test only costs about $400!
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