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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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…)

Geneticist at University of California Davis Sequences His Unborn Baby’s DNA in a Global First for Whole Genome Sequencing

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…)

‘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…)

Foundation Medicine Striving to Use Next-Generation Gene Sequencing to Enrich Diagnostic Value Offered to Physicians by Clinical Laboratories

Pathologists will want to understand how this innovative company is doing multi-gene analysis of patient tumors that includes information about therapeutics and clinical trials

CAMBRIDGE, MASSACHUSETTS—Next-generation gene sequencing is already changing how cancer is diagnosed and treated for a growing number of patients. Because it moves healthcare closer toward personalized medicine, this development has major implications for anatomic pathology groups and clinical laboratories.

One company in the forefront of personalized medicine is Foundation Medicine, based here in the Boston’s Route 128 biotech corridor. Last week, your Dark Daily Editor, Robert L. Michel, met with the executive team and toured the company’s CLIA-licensed medical laboratory to learn more about this company’s unique approach to clinical diagnostics. (more…)

Illumina Asserts Its Claim of a $1,000 Whole Human Genome, But Is Gene Sequencing Ready for Use by Clinical Pathology Laboratories?

This price includes all costs except overhead, but without a high volume of customers, Illumina’s $10-million price for the HiSeq X Ten machine may not be a wise investment

Competition continues to be fierce in the race to the $1,000 whole human genome. Most recently, Illumina announced the availability of its latest gene sequencing system, along with the claim that it can deliver a whole human genome at a cost of just $1,000. But, as most pathologists know, the devil is in the details, since not every Illumina customer is likely to achieve that price point.

When Illumina, a San Diego-based technology company, announced its new HiSeq X Ten genetic-sequencing machine in December, 2013, Illumina CEO Jay T. Flatley claimed the company’s system can deliver “full-coverage human genome sequences for less than $1,000,” down from $500 million 10 years ago. The new system is expected to ship in the first quarter of 2014.

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