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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J. Craig Venter Joins Race to Crack the Puzzle of Human Aging with New Company That Aims to Sequence 100,000 Human Genomes Yearly

Big Data will play major role as Venter’s team sets out to build world’s largest database of human genotypes, microbiomes and phenotypes

For the second time in recent months, another prominent figure has declared his intention to crack the code of human aging. This time it is scientist and entrepreneur J. Craig Venter, Ph.D., known for his role in sequencing the first whole human genome.

Venter will pursue this goal through a brand new company he launched, called Human Longevity, Inc. (HLI), based in La Jolla, California.

Human Longevity, Inc. Will Compete Against Calico

This is a noteworthy development. Pathologists and clinical laboratory managers already know Venter’s competition in this race is a company called Calico that was founded by several entrepreneurs linked to Google. (more…)

Genomic Study Reveals Role of Human Papillomavirus in Cervical Cancer and Identifies Novel Therapeutic Targets for the Disease

Findings may help physicians tailor cervical cancer therapies to specific gene mutations and improve the accuracy of diagnostic screening tests for this disease

New scientific knowledge about the role of human papillomavirus (HPV) in the growth of cervical cancer is creating excitement within the medical community. Among other things, these findings could encourage more widespread vaccination against HPV. That in turn would lead to reduced Pap smear testing by pathology laboratories over time.

For these reasons, cytopathologists and cytotechnologists will be particularly interested in the research findings that were published as a first-ever, international genomic study of cervical cancer, which was published online December 25, 2013, at Nature.com. Researchers discovered that the location where HPV integrates itself into the human genome, is where it causes amplified gene expression that promotes and elevates mutated gene activity that may cause cervical cancer to develop. (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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Whole-Genome Scanning Reveals Mutations in Melanoma DNA ‘Dark Matter’ and May Offer New Source for Clinical Pathology Laboratory Tests

New discoveries demonstrate important advantages of whole-genome sequencing in investigations of DNA ‘dark matter’ and shed light on the possible origins of cancer

Whole-genome scanning of cancer cells revealed significant mutations in the “dark matter” areas of melanoma DNA. This represents a leap forward in the basic science of cancer. Easier access to whole-genome sequencing means that researchers are poised to mine a rich vein of data that will shine a light on how cells malfunction.

For pathologists and clinical laboratory managers, these new research findings hold the promise to open up another approach to using the data in whole human genomes for diagnostic and therapeutic purposes. It also shows one more practical outcome from the rapidly falling cost of sequencing DNA. (more…)

Common Gene Abnormalities Found in Many Types of Cancers

Multi-marker pathology cancer tests likely to be developed from this research

Pathologists and other clinical laboratory scientists can expect to see a number of multi-biomarker genetic tests for cancer as a result of research that is identifying specific gene abnormalities that are common to certain cancers and promote the growth of these cancers. Variations in these mutations make a difference in the effectiveness of certain treatments.

With the aid of recent advances in genomic mapping technology, an international team led by researchers at the Dana-Farber Cancer Institute and the Broad Institute have found that many of these aberrations in the genetic code are shared by a variety of cancers occurring in many different types of tissues. The study appears in the February 18 issue of Nature.

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