Two New York City Hospitals Join New Genetic Study to Perform Whole Genome Sequencing on 100,000 Newborn Babies to Search for 250 Rare Diseases

Goal is to demonstrate how whole human genome sequencing of newborns can deliver important diagnostic findings associated with 250 genetic conditions Clinical laboratory testing and genetics are moving closer to the delivery room than ever before. In the largest study of its kind in North America, genomic scientists plan to supplement traditional screening for inherited diseases—traditionally performed on a blood sample taken shortly after birth—with whole genome sequencing (WGS) on 100,000...

Columbia University Researchers Say New High-Speed 3D Microscope Could Replace Traditional Biopsy, with Implications for Surgical Pathology

Columbia University’s MediSCAPE enables surgeons to examine tissue structures in vivo and a large-scale clinical trial is planned for later this year Scientists at Columbia University in New York City have developed a high-speed 3D microscope for diagnosis of cancers and other diseases that they say could eventually replace traditional biopsy and histology “with real-time imaging within the living body.” The technology is designed to enable in situ tissue analysis. Known as MediSCAPE, the...

University of Washington and Microsoft Research Encode Data into DNA, Demonstrating Potential New Use for Genetic Sequences

The proof-of-concept experiment showed data can be encoded in DNA and retrieved using automated systems, a development that may have positive significance for clinical laboratories It may seem far-fetched, but computer scientists and research groups have worked for years to discover if it is possible to store data on Deoxyribonucleic acid (DNA). Now, Microsoft Research (MR) and the University of Washington (UW) have achieved just that, and the implications of their success could be...

How DNA Databases Help Investigators Solve Crimes; Will Clinical Laboratories Be Asked to Help?

Studies show consumer genealogy databases are much broader than is generally known. If your cousins are in such a database, it’s likely you are too Recent news stories highlighted crime investigators who used the DNA data in consumer genetic genealogy databases to solve cold cases. Though not widely known, such uses of direct-to-consumer DNA databases is becoming more commonplace, which might eventually lead to requests for clinical laboratories to assist in criminal investigations involving...

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...
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