Nov 11, 2015 | Digital Pathology, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Use of genomic data collector could mean competition for medical laboratories that now store, analyze, and interpret genetic data
UCLA Health is working to integrate genomic patient data into its Epic electronic health record (EHR) system. This pilot project could signal potential competition for pathology groups and clinical laboratories that currently are the main repositories for the storage, analysis, and interpretation of genetic data.
Pilot Program Designed to Support Precision Medicine Research
As it becomes faster, cheaper, and easier to sequence human exomes and genomes, the challenge is how to store a patient’s gene data and make it available at the time care is provided.
UCLA Health is teaming with Seattle-based startup ActX in an effort to solve this problem. ActX represents a relatively new type of company—a genomic data collector (GDC)—and it is developing a critical solution—EHR Integration. The emergence of GDCs could affect clinical laboratories that currently provide most of the storage, analysis, and interpretation of genetic data.
ActX Founder and CEO Andrew Ury, MD, told MedCity News that, “While genetics can’t predict everything, genetics can predict more and more and whether a patient has a side effect. We think this is the future.”
ActX currently provides genomic decision support to physicians using Allscripts and Greenway Health ambulatory EHRs. A patient’s genetic information is collected through a saliva sample and then analyzed in real-time. Using a patient’s genetic code, the ActX application alerts physicians to possible medication adverse reactions and efficacy as well as actionable medical risks and patients’ carrier status. (more…)
Sep 9, 2015 | Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
American Gut is using test results to create a microbiome database for use by researchers to better understand how microbes impact human health
Have you ever wondered what lurks in the dark corridors of your bowels? Now you can find out. Two entrepreneurial organizations—one a not-for-profit and the other a new clinical lab company—are charting new medical laboratory territory with the offer of an inexpensive poop test that reveals the type of microbes residing in your gut.
Where to Get Your Gut Microbes Analyzed
The not-for-profit organization American Gut, or British Gut in the United Kingdom (UK), which launched as crowd-funding projects on FundRazr, involve a private research project called the Human Food Project (HFP), which was initiated to compare the microbiomes of populations around the world. The Human Food Project is seeking a better understanding of modern disease by studying the coevolution of humans and their microbes.
People who pay American Gut’s $99 test fee (£75 for the UK project) receive a test kit to collect a stool sample to mail back for DNA sequencing. The test results will be provided to participants, but also benefit microbiome research. (more…)
Jul 17, 2015 | Digital Pathology, Laboratory News, Laboratory Pathology, Uncategorized
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…)
Dec 1, 2014 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Scientists participating in the modENCORE study have the goal of understanding the causes of hereditary genetic diseases in humans
New discoveries about the interaction of genes and transcription factors in creating different types of RNA will be of interest to pathologists and clinical chemists performing genetic tests and molecular diagnostic assays in their medical laboratories.
The goal of this research is to better understand hereditary genetic disease in humans. The new knowledge is based on studies of the common fruit fly, or Drosophila melanogaster (D. Melanogaster), and to a lesser extent a tiny worm Caenorhabditis elegans (C. elegans). Both have been used as research models to study the human condition.
Research Could Give Pathologists New Diagnostic Tools (more…)
Oct 27, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology
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…)
