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...

Researchers Create Artificial Intelligence Tool That Accurately Predicts Outcomes for 14 Types of Cancer

Proof-of-concept study ‘highlights that using AI to integrate different types of clinically informed data to predict disease outcomes is feasible’ researchers say Artificial intelligence (AI) and machine learning are—in stepwise fashion—making progress in demonstrating value in the world of pathology diagnostics. But human anatomic pathologists are generally required for a prognosis. Now, in a proof-of-concept study, researchers at Brigham and Women’s Hospital in Boston have developed a method...

Researchers in Boston Find COVID-19 Spike Protein Lingers in Long COVID-19 Patients

Viral reservoir could be behind persistence, says study, which also suggests a blood biomarker could be found for clinical laboratory testing Microbiologists and virologists working closely with physicians treating long COVID-19 patients will gain new insights in a study that found coronavirus spike protein in COVID-19 patients’ blood up to 12 months after diagnosis. The researchers believe their findings could be used to develop a clinical laboratory biomarker for long COVID-19. Researchers...

Scientists Use Thousands of Genetic Markers to Develop Risk Scores for Six Common Diseases: Findings May Have Implications for Clinical Laboratories

Study demonstrates how precision medicine is advancing because of new insights from the use and interpretation of whole-genome sequencing As part of the Genomic Medicine at Veterans Affairs Study (GenoVA), researchers from Harvard Medical School, Veterans Affairs Boston Healthcare System, and Brigham and Women’s Hospital in Massachusetts used thousands of genetic markers to develop and validate polygenic risk scores (PRS) for six common illnesses. These findings may eventually provide clinical...

Swedish Researchers Develop Urine Test That Can Identify Asthma Types and Their Severity, Potentially Leading to Improved Precision Medicine Diagnostics

The study ‘shows that measurement using a urine test provides improved accuracy relative to other measurement methods, for example certain kinds of blood tests,’ a KI news release states Researchers at the Karolinska Institute (KI) in Sweden have developed a non-invasive urine-based test that can identify what type of asthma a patient has and its severity. If developed into a clinical laboratory diagnostic, such a test also could give clinicians a better idea of what treatment is more likely...
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