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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More Insurers Willing to Cover Whole Exome Sequencing (WES) in a Trend That Creates New Opportunities for Clinical Pathology Laboratories to Add Value

Most insurers still determine coverage on a case-by-case basis, but two major payers now have coverage policies that are helpful to clinical labs that perform WES

Whole exome sequencing (WES) is not new for clinical pathologists, but it is becoming more common in a clinical setting as more physicians learn about its uses.

This is due to two reasons. First, researchers are identifying new ways to use whole exome sequencing to improve patient care. Second, the cost of whole genome sequencing continues to fall at a steady rate, making it ever more affordable to use in clinical settings.

As recently as 2009, WES was prohibitively expensive and there was little possibility that insurers would cover the cost of the test, as it was considered experimental. Now, however, evidence is mounting that it is an effective diagnostic tool. Therefore, more payers are announcing coverage for WES for an expanding number of diagnostic purposes. (more…)

Venter’s Research Team Creates an Artificial Cell and Reports That 32% of Genes Are Life-Essential but Contain Unknown Functions

Understanding the unknown functions of these genes may lead to the creation of new diagnostic tests for clinical laboratories and anatomic pathology groups

Once again, J. Craig Venter, PhD, is charting new ground in gene sequencing and genomic science. This time his research team has built upon the first synthetic cell they created in 2010 to build a more sophisticated synthetic cell. Their findings from this work may give pathologists and medical laboratory scientists new tools to diagnose disease.

Recently the research team at the J. Craig Venter Institute (JCVI) and Synthetic Genomics, Inc. (SGI) published their latest findings. Among the things they learned is that science still does not understand the functions of about a third of the genes required for their synthetic cells to function. (more…)

Apple Designs New App to Allow Use of iPhones to Recruit and Track Patients in Clinical Study as One Strategy to Become a Player in Healthcare Big Data

Researchers, including pathologists, can use Apple’s ResearchKit app to help collect and share genetic information about cancers and other diseases while building a huge genome database

By providing tools to allow users to be more productive in working with healthcare big data, several Silicon Valley giants hope to increase their presence in medical services. The latest company to enter the field is Apple Computers (NASDAQ:AAPL). In March it announced the availability of ResearchKit, an open-source software framework that turns the iPhone into a research tool.

Pathologists and clinical laboratory scientists have a stake in the healthcare big data trend, since more than 70% of the typical patient’s permanent medical record consists of medical laboratory test data. Thus, the products introduced by Apple, Google, and other Silicon Valley firms that are designed to help physicians and other professionals work with healthcare big data have the potential to transform the way value is harvested from these data sets.

It was Google (NASDAQ:GOOG) that took the first leap into the medical research arena. Last year, it launched Google X Life Sciences to assemble a database of the human genome. (See Dark Daily, “Google Takes First Steps to Create World’s Largest Human Genome Database as Part of Wider Strategy to Become a Major Player in Healthcare ‘Big Data’” October 14, 2014).

Apple’s strategy is to support researchers. Its ResearchKit is designed to be an open-source software framework that turns the iPhone into a research tool. It enables development of apps that help medical researchers recruit study subjects and collect health information through iPhone’s sensors and surveys. Because it is an open-source platform, researchers also can create apps for Android and Windows devices. (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.

(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…)

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