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
Sign In

Is Illumina’s $1,000 Genome a Realty? Not for Clinical Laboratory Purposes, Asserts an In Vitro Diagnostics Expert

Gene sequencing for clinical purposes requires more resources, including the costs of experts to interpret data to help pathologists and physicians involved in the case

It was January when headlines nationwide trumpeted Illumina’s introduction of the $1,000 genome. The story in Forbes Magazine, “The $1,000 Genome Arrives—For Real, This Time,” was typical of much of the press coverage.

Because pathology groups and clinical laboratories have much at stake in the race to the $1,000 whole-human genome sequence, it is important to know the real facts about the cost and performance of Illumina’s latest generation of genome sequencing technology. After all, corporate press releases are intentionally designed to present a company’s product in the best possible light. (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.

(more…)

Scripps Researchers Study Consumer Response to Results of Predictive Genetic Tests

Pathologists likely to be surprised to learn that consumers reach objectively to the results of genetic tests

How consumers will react to the results of genetic tests is a subject of constant debate by many health policy wonks. This same debate has its counterpart in the clinical laboratory testing industry, as pathologists and PhDs discuss the pros and cons of allowing consumers to order their own predictive genetic tests and molecular diagnostic assays.

Rapid developments in whole human genome sequencing will soon make it affordable and fast for any consumer to run their entire genome and have the results analyzed and presented to them in a detailed, easy-to-understand manner. In practical terms, it means medical laboratories and anatomic pathology groups will need to be ready to respond to consumer demand for access to these tests.

(more…)

Stanford Study Shows How Pathologists May Eventually Use the Whole Human Genome for Diagnostic Purposes

Researchers use patient’s whole genome to predict his risk for 55 different health conditions


For pathologists, the day draws ever closer when they will use a patient’s whole genome sequence for diagnostic purposes. That’s the implication from research being done at the University of Stanford Medical School where scientists recently made a leap forward in advancing practical application of the human genome to patient care.

Stanford researchers recently announced that, for the first time, a healthy person’s complete DNA was sequenced, then used to create an easy-to-use, cumulative risk report. This study model could catapult patient genomic analysis into clinical laboratories even as it adds personalized medicine to the doctor’s black bag of diagnostic tools within the decade. The Stanford study team reported these findings in a recent issue of Lancet.

(more…)

;