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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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…)

Harvard Researchers Demonstrate a New Method to Deliver Gene-editing Proteins into Cells: Possibly Creating a New Diagnostic Opportunity for Pathologists

This technology has potential to create a demand for pathologists to do genetic analysis as a companion diagnostic in support of physicians treating patients with gene-editing proteins

Researchers at Harvard University have demonstrated a new method to deliver gene-editing proteins into cells. This breakthrough could eventually trigger a demand for pathologists to do genetic analysis as the companion diagnostic needed to help clinicians select appropriate gene-editing therapies for their patients.

Of course, it will be several years before such a scenario is feasible. The related example are the companion diagnostic tests that clinical laboratories perform to guide a physician’s decision on an appropriate therapeutic drug. Continued development of gene-editing therapies has the potential to increase the need for pathologists and medical laboratory scientists to do genetic analysis as a companion diagnostic for patients who would benefit from a gene-editing therapy.

The Harvard University researchers used commercially available cationic lipids to deliver genome-editing proteins into cells. The system works on living animals and humans, and the technology enables scientists to precisely and easily change DNA sequences at exact locations. The full study was outlined in an October Nature Biotechnology article. (more…)

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 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…)

‘Genetic Testing Handbook’ Provides Physicians, Pathologists, and Clinical Lab Managers with Comprehensive Reference for Clinical Genome and Exome Sequencing

This new tool offers clinicians the dos and don’ts of genetic testing, what physicians need to know to do it properly 

Clinical use of gene sequencing information has advanced to the point where a team of genetic experts has compiled and issued the Genetic Testing Handbook. The goal of the clinical genome and exome sequencing (CGES) handbook is to provide clinicians—including pathologists and clinical laboratory scientists—with a useful reference tool.

The authors of the Genetic Testing Handbook are Leslie G. Biesecker, M.D., of the National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, and Robert C. Green, M.D., M.P.H., a geneticist who is an Associate Professor of Medicine at Harvard Medical School.

Primer Distills Human Genome Project Technologies for Practical Use

“The technologies that were used for the Human Genome Project are now distilled down to practical tools that clinicians can use to diagnose and, hopefully, treat diseases in patients that they couldn’t treat before,” stated Biesecker, who serves as Chief and Senior Investigator at the NHGRI’s Medical Genomics and Metabolic Genetics Branch, in a press release issued by the National Institutes of Health (NIH). (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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