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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NIH Awards $48.6 Million in Grants to Advance Putting Genomic Information in Electronic Health Records of Patients

Goal is to enable gene sequencing data to reside in EMRs, which would provide pathologists and clinical lab professionals with an opportunity to add value

More federal grant money is available to speed up research designed to make it possible to incorporate genome information into the electronic medical record (EMR). This is a development that can have both positive and negative consequences for clinical laboratories and anatomic pathology groups.

The National Institutes of Health (NIH) is awarding more than $48.6 million in grants to researchers seeking to better understand the clinical implications of genomic information and determine the best ways to deliver news to patients when their genetic data indicates they may be predisposed to certain diseases or medical conditions.

The grants are administered by the National Human Genome Research Institute (NHGRI) and represent the third phase of the Electronic Medical Records and Genomics (eMERGE) program. This is a national consortium working to move genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants in about 100 clinically-relevant genes. (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…)

Geneticist at University of California Davis Sequences His Unborn Baby’s DNA in a Global First for Whole Genome Sequencing

Prenatal genome sequencing raises ethical issues for gene sequencing labs and clinical labs, since a baby’s genetic information may present lifelong consequences for that individual

Pathologists and clinical laboratory managers will be interested to learn that another milestone in genetic testing was reached earlier this year. A geneticist at the University of California at Davis, has sequenced the whole human genome of his unborn baby, the first time this feat has been accomplished.

Notably, it was geneticist and graduate student Razib Khan of the UC Davis School of Veterinary Medicine who sequenced his unborn son’s genome during the third trimester of pregnancy using a sample of the fetus’ placenta. This is the first healthy person born in the United States with his entire genetic makeup deciphered prior to birth, noted a recent story published by the MIT Technology Review(more…)

Study Shows How Simple Changes in Reporting Medical Laboratory Test Results to Clinicians Improve Patient Safety and Reduce Inappropriate Use of Antibiotics

Researchers focused on whether different ways of reporting clinical laboratory test results would improve care for patients at low risk for developing urinary tract infections

Simple changes in how clinical laboratory tests are reported to clinicians can contribute to improved patient safety and a reduction in the inappropriate use of antibiotics. These were the conclusions of a recent study published in the Infectious Diseases Society of America’s (IDSA) peer-reviewed medical journal, Clinical Infectious Diseases (CID).

If the findings of this study can be duplicated in other settings, it can provide pathologists and medical laboratory scientists with another approach to improve the way clinicians utilize clinical laboratory tests so as to improve patient outcomes and reduce the associated cost of care. (more…)

New Industry Emerging to Provide Cloud-based Computing Firepower Needed for Big Data Genomic Analyses of Healthcare and Medical Laboratory Information

Cloud-based genetic research networks that facilitate collaboration by stakeholders worldwide may solve the most difficult disease challenges, including a cure for cancer

Coming soon to a clinical laboratory near you: cloud-based “big data” genome analysis! A new industry is emerging dedicated to accepting, storing, and analyzing vast quantities of data generated by next-generation gene sequencing and whole human-genome sequencing.

There are already examples of academic departments of pathology and laboratory medicine that have outsourced the storage and annotation of whole human genomes sequenced from tissue specimens collected from cancer patients. The annotated genomes are returned to the referring pathologists for analysis. (more…)

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