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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Use of “Long Read” Gene Sequencing Allows University of Washington Researchers to Uncover Thousands of Never-before Seen Gene Variations

This and similar research initiatives expected to increase the number of genetic markers that would be useful for creating clinical pathology laboratory tests and therapeutic drugs

Whole human genome sequencing continues to become faster, easier, cheaper, and more accurate to do. Because of these advances, the sheer number of human genomes being sequenced is skyrocketing. This huge increase in data is helping researchers unlock many new insights that, in turn, are fueling efforts to develop useful new medical laboratory tests and therapeutic drugs.

This is happening at the University of Washington (UW), where researchers using new genome sequencing technology are uncovering thousands of never-before-seen genetic variants. The application of “long read” gene sequencing technologies is allowing these researchers to identify genetic variants previously unknown, and that are made up of between 50 and 5,000 base pairs.

The discovery is important for two reasons. First, it could close existing gaps in the genome map. Second, it could help scientists identify new genomic variations that are closely associated with difficult-to-diagnose diseases. Of interest to pathologists and clinical laboratory professionals, such discoveries could point to expanded use of genetic testing for diagnosis and treatment of 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…)

China’s Genome-Mapping Giant BGI Is Poised to Become an International Leader in Gene Sequencing and May Play Major Role in Interpretation of Genetic Test Results

However, China has a shortage of well-trained pathologists, which is why some American lab organizations are establishing medical lab testing ventures in China

If experts are right, a company in China is poised to become the world’s largest at gene sequencing. In addition, the huge volume of genetic data it generates is expected to give this company the world’s largest database of genetic information.

Such developments could mean that, in just a few years, many pathologists and molecular Ph.D.s in the United States will be accessing this trove of genetic data as they conduct research to identify new biomarkers or work with clinical specimens.

The company at the center of all this attention is genome-sequencing giant BGI, located in Shenzhen, China. It owns 230 of the largest, high-throughput gene-sequencing machines and wants to become the world’s largest genome-mapping company. (more…)

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