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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Medical Laboratories Take Note: Canadian Lab Company Is Giving Free Genetic Tests for Cancer Screening to 1,500 Patient as Way to Advance Personalized Medicine

Some cancer researchers worry that these patients may not benefit from such clinical laboratory testing because effective therapeutic drugs don’t exist for their cancers

What can be more patient-centric than for a medical laboratory company to offer free genetic tests for cancer? That’s the strategy of a firm in Canada that is offering free cancer genomics testing to 1,500 cancer patients. However, some cancer researchers responded to this offer with skepticism.

In March, Contextual Genomics of Vancouver, British Columbia, began providing its cancer genomics test free to the first 1,500 patients whose oncologists submitted tumor samples. These specimens would be tested using the company’s Find It hotspot cancer panel.

“You could call it marketing, but it’s making this test available to people who haven’t had access to it before,” stated Chris Wagner, Contextual Genomics President and CEO, in a CBC News Canada interview.

Contextual Genomics says its Find It test focuses on “90 hotspots across 29 known cancer genes and analyzes seven exons of three genes,” with the specific genes and mutations selected because they are “actionable and can potentially direct patient treatment, indicate prognosis, and support diagnosis.” Oncologists that participate in this commercial pilot program will receive a comprehensive report that interprets the sequencing results. The report also identifies any approved drugs or clinical trials that target the patient’s gene mutations. (more…)

Human Longevity Inc. Unleashes Power of Whole-Genome Sequencing to Unlock Keys to Healthy Aging; Research May Lead to New Clinical Laboratory Tests

Human genome pioneer J. Craig Venter’s newest project seeks to ‘change the way medicine is practiced’ by creating genomic-based medicine model

With little fanfare or public notice, a start-up company in San Diego is busy sequencing the largest number of whole human genome sequences in the world. The knowledge expected to result from this effort promises to revolutionize healthcare, as well as clinical laboratory testing.

Human Longevity Inc. (HLI) is a genomics and cell therapy company that has assembled the largest human genome sequencing operation in the world. It’s goal is to use whole genome sequencing and cell-based therapeutics to redefine aging and “meaningfully extend the human lifespan.”

“HLI’s mission is to identify the therapeutically targetable mechanisms responsible for age-related human biological decline, and to apply this intelligence to develop innovative solutions to interrupt or block these processes, meaningfully extending the human lifespan,” HLI states on its website. “We are trying to tackle some of the most vexing diseases like cancer, heart disease, and diabetes … we are working to change the way medicine is practiced through our genomic-focused, preventive model.” (more…)

New England Journal of Medicine Publishes Study Where Researchers Call Attention to Lack of Knowledge about Some Genes Included in Gene Panel Tests for Inherited Cancers

Researchers are concerned about the lesser-known genes included in the test and also point out that little published research exists to support use of these genes for clinical laboratory testing

Gene-panel tests for inherited cancers were scrutinized by a group of 17 prominent international genetic researchers in a study published by the New England Journal of Medicine (NEJM) this summer titled “Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.” These experts pointed out that, for many of the genes included in these test panels, there remains much uncertainty about their role in various cancers and other diseases.

What will be of greatest interest to pathologist, Ph.D.s, and medical laboratory professionals currently performing molecular diagnostics assays and genetics is that these experts proposed greater regulation of unvalidated gene-panel tests for inherited cancers. In the NEJM, the authors provided some examples of genetic tests, such as those offered by Myriad Genetics, Inc. (NASDAQ:MYGN), Ambry Genetics, Invitae (NYSE:NVTA), and Illumina, Inc. (NASDAQ:ILMN) and noted that risks posed by many mutations occurring on these panels are unknown.

These panel tests can include more than 100 genes, 21 of which are an indication of breast cancer, including BRCA1 and BRCA2, stated the paper. (more…)

Finding Genomes with ‘Knockout’ Genes Leads to Development of New Therapeutic Drugs, along with Clinical Laboratory Tests for these Biomarkers

Drugs based on knockout genes are expected to trigger the need for companion diagnostic tests that will be performed by pathologists and medical laboratory scientists

Pharmaceutical companies and other research programs are developing a new opportunity to use information from human genome sequencing to create a new class of therapeutic drugs. These drugs target “knockout genes” and those same genes are expected to be used as diagnostic biomarkers for clinical laboratory testing as a new field of companion diagnostics emerges.

In simplest terms, large-scale DNA sequencing of the human genome is enabling researchers to identify individuals with “knockout” genes and then develop therapeutic drugs based on that knowledge.

The first commercial success story from this partnership of geneticists and the pharmaceutical industry is expected to be a new class of drugs that lowers cholesterol. These drugs may reach pharmacy shelves this year, reported an October 24 Nature article. (more…)

Studies Show How Clinical Whole-Exome Sequencing May Forever Change the Future Practice of Medicine while Giving Pathologists a New Opportunity to Deliver Value

Similar study of exome sequencing at UCLA produces findings that mirror the diagnostic outcomes produced by researchers at the three Houston organizations

In recent years, pathologists and other clinical laboratory professionals have seen increasing evidence of the benefits of using exome sequencing for clinical diagnostic purposes.

Confirming their initial published findings of a 25% molecular diagnostic rate, researchers from Baylor College of Medicine (BCM), Baylor Human Genome Center, and the University of Texas Health Science Center at Houston have released results of a large sampling of 2,000 consecutive patients.

In this expanded study, published in the November 12, 2014, issue of the Journal of the American Medical Association (JAMA), 504 patients (25.2%) received a molecular diagnosis and 92 patients (4.6%) benefitted from medical intervention to ameliorate or eliminate negative symptoms. (more…)

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