News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
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Molecular Information Management Systems (MIMS) Are Newest Tools to Help Clinical Laboratories Perform and Report Molecular and Genetic Test Results

Some experts consider MIMS to be the classic LIS on steroids because they are designed to handle the vast amounts of data generated by the latest generation of genetic tests

Steady improvements to next-generation genetic sequencing, lab-on-a-chip technologies, and lab automation are triggering substantial increases in the volume of data generated at medical laboratories and pathology groups. The future of personalized medicine lies just as much in the analysis of the data generated by these tests as it does in how labs perform these procedures.

Laboratory Information Systems (LIS) help to manage and organize much of this data. However, over the past decade, the volume of data generated by molecular and genetic testing has outpaced the organization, reporting, and interfacing features of popular LISs. With more than 3-billion base pairs of DNA in the human genome, each sample analysis has the potential to generate huge amounts of data. (more…)

Top Biologists Call for Moratorium on Use of CRISPR Gene Editing Tool for Clinical Purposes Because of Concerns about Unresolved Ethical Issues

Most pathologists know that CRISPR can permanently repair DNA to eliminate diseases that plague families, but also could be used for less ethical purposes, say experts

Gene editing is a rapidly developing field that is expected to create new diagnostic needs that can be filled by pathologists and by new medical laboratory tests. However, experts in bio-ethics are voicing concerns that gene editing for clinical purposes is moving forward without proper consideration of important ethical issues and are calling for a moratorium on use of gene editing for clinical purposes.

What is speeding the development of gene editing is use of the tool known as CRISPR/Cas9. It is a gene-editing tool that makes it possible to genetically modify DNA for therapeutic purposes. It provides medical scientists the ability to repair damaged genes that cause or predispose individuals to disease. (more…)

Illumina Plans to Tap Consumer Market for its Smartphone-Ready DNA Chip: Will This Create Diagnostic Consulting Opportunities for Pathologists?

Research team at Illumina believes that consumers are ready to access their own gene sequencing data, along with medical lab test data and other diagnostic information

In the field of next-generation gene sequencing, San Diego, California-based Illumina, Inc., (NASDAQ: ILMN) is moving expeditiously to expand into related markets. One such business initiative is to put gene sequencing at the fingertips of consumers via an app and a smartphone.

Although it is expected to take several years to make this feasible, the fact that Illumina is starting to spend money today to serve such a consumer market is a significant fact for pathologists and clinical laboratory executives monitoring developments in the gene sequencing sector.

The company announced plans to develop a chip that plugs into a smartphone and brings genetic medicine to the individual, reported EE Times in a story it published recently. Illumina says it wants to transform smartphones to “molecular stethoscopes” that could eliminate people’s need to visit primary care doctors. (more…)

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 false-negative rate of mutations in 56 disease-causing genes produced by four different commercially available human exome-capture test kits. The researchers found that these test kits failed to deliver quality results, sometimes missing mutations altogether, noted a report published by Medical Daily. (more…)

Researchers Produce First Map of Human Proteome, Generating Promise for Developing Novel Medical Laboratory Tests and New Therapeutics

The human proteome map provides a catalog of proteins expressed in nondiseased issues and organs to use as baseline in understanding changes that occur in disease

Given the growing importance of proteins in medical laboratory testing, pathologists will want to know about a major milestone recently achieved in this field. Researchers have announced that drafts of the complete human proteome have been released to the public.

Experts are comparing this to the first complete map of the human genome that was made public in 2000. Clinical laboratory managers and pathologists know how the availability of this information provided the foundation for rapid advances in understanding different aspects involving DNA and RNA.
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