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…)

World’s Largest Genetic Study in Iceland Produced New Insights into Gene Function and Disease Predisposition that Could Lead to New Clinical Laboratory Tests

Researchers sequenced the entire genomes of 2,636 Icelanders and gained useful insights into how human genes evolve and mutate

Over the past 15 years, Iceland has managed to be at the forefront of genetic research tied to personalized medicine and new biomarkers for diagnostics and therapeutics. This is true because, as most pathologists know, Iceland has a small population that has seen little immigration over the past 1,000 years, along with a progressive government and business community.

The relatively closed society of Iceland makes it much easier to identify genetic sequences that contribute to different diseases. The latest example of such research findings comes after the genomes of 2,636 Icelanders were sequenced. In addition to this being the world’s largest-ever study of the genetic makeup of a single population, the findings suggest a strategy for analyzing the full-spectrum of genetic variation in a single population.

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Synthetic Biologists Demonstrate Ability to Rapidly Create Cheap, Accurate In Vitro Diagnostics Tests That Could Eventually Help Pathologists Diagnose Disease

Wyss Institute develops prototype Ebola test in less than 12 hours with $20 in materials, perhaps paving the way for inexpensive paper-based diagnostic tests with a wide range of applications outside the medical laboratory

One goal of many synthetic biology researchers is to create in vitro diagnostic testing systems that produce results that are as accurate as those produced in today’s state-of-the-art clinical laboratories, yet are much cheaper to run because they incorporate low-cost materials, such as paper.

Recently, two teams of researchers worked to demonstrate how several synthetic biology methods, when combined with programmable paper-based diagnostic platform, could detect antibiotic-resistant bacteria and strain-specific Ebola virus. These findings were published in a peer-reviewed medical journal last fall.

Such cell-free circuits embedded in paper could be the breakthrough in synthetic biology that leads to pocketsize blotter tests that can detect such diseases as Ebola in the field.  Should this line of research be applied to clinical settings, pathologists and medical laboratory scientists could soon be processing bandages that change colors in the presence of certain bacteria, or examining paper-based clothing infused with diagnostic laboratory tests that react to bio-markers specific to a chronic disease patient’s condition. (more…)

Pathologists and Research Team at Dana-Farber/Brigham and Women’s Use Next-Gen Sequencing to Create Faster, More Accurate Cancer Test

This advanced medical laboratory test looks for 95 genetic mutations associated with cancers of the blood and may provide pathologists with a new diagnostic tool 

Seeking a faster time to answer when diagnosing patients with cancers of the blood, researchers and pathologists at the Dana-Farber/Brigham and Women’s Cancer Center (DF/BWCC) in Boston have developed a unique clinical laboratory assay that involves multiple genes and just takes days to perform.

This high-tech genetic diagnostic test is called Rapid Heme Panel. It scans DNA in blood or bone marrow specimens. It uses powerful next-gen sequencing technology that searches for 95 genes that frequently mutate in blood cancers, according to a press release issued by DF/BWCC.

At Dana-Farber/Brigham and Women’s cancer center, this medical laboratory test is used in patients with leukemia, Myelodysplastic syndromes caused by poorly formed or dysfunctional blood cells, and myeloproliferative disorders that fill the bone marrow with abnormal blood cells. (more…)

Results of Undercover Assessment Suggest Clinical Laboratory Companies Need to Raise the Bar on Quality Control of Non-Invasive Prenatal Tests

Three out of five NIPT laboratories returned normal or negative test results for samples taken from non-pregnant women in undercover test performance assessment

Clinical laboratory companies that offer genetic tests may want to be on the alert. Secret shoppers are submitting specimens for the purpose of assessing the quality, the accuracy, and the clinical relevance of the proprietary medical laboratory tests they perform.

One such report was published in GenomeWeb under the title “Undercover Assessment of Five Commercial NIPT Labs Points to Need for Better Quality Control.” The goal of the report was to emphasize the need for standards to ensure quality and accuracy of molecular assays and genetic tests.

This report discussed results from an undercover performance assessment of five commercial laboratories, each of which offers Non-Invasive Prenatal Tests (NIPTs). GenomeWeb reported that three test results reported normal or negative test results for a female fetus, despite the fact that the samples submitted had been taken from non-pregnant women. (more…)

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