For medical practitioners expertly trained in the scientific methods of discovery, having a young patient with serious health complications from an undiagnosed condition is about as somber and frustrating as it gets. These feelings are only magnified for parents of the patient, especially when searching for a diagnosis can go on for years. This is the essence of what is known as the “diagnostic odyssey.” Honing in on a rare disease diagnosis involves thorough medical history evaluations,
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Eliminating the Long, Cumbersome and Costly Diagnosis of Genetic Diseases
The answer to questions about human disease can be found in our genes. The difficulty in the past has been the testing process, a sort of trial and error approach of drilling down into the multitude of variants that can be found within the genes, variants that when analyzed in tandem with detailed clinical histories can actually tell the story and lead to a faster diagnosis. Human beings carry around 20,000 genes and, of those, approximately 5,000 are somewhat understood, and those genes can
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Consumer Genetic Tests Accelerate Precision Medicine for Some Providers
Direct-to-consumer (DTC) genetic tests have been on the scene for some time now. The Federal Drug Administration (FDA) approved the first DTC test on three specific BRCA1/BRCA2 breast cancer gene mutations more than two years ago. Six months after that, the agency similarly green-lighted a DTC pharmacogenomic (PGx) test to examine 33 variants for eight different genes that indicate how effectively patients metabolize specific medications. Like many such advances, availability of DTC tests is
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Mount Sinai Researchers Develops AI Algorithm to Detect COVID-19 from CT Scans
What You Should Know: - Mount Sinai researchers develop a unique artificial intelligence (AI) algorithm to detect COVID-19 based on CT scans and patient data. - The Mount Sinai team integrated data from those CT scans with the clinical information to develop an AI algorithm. It mimics the workflow a physician uses to diagnose COVID-19 and gives a final prediction of positive or negative diagnosis. Mount Sinai researchers
are the first in the country to use
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CVS Health Launches Transform Oncology Care Program, Partners with Tempus
- CVS Health launches Transform Oncology Care, which includes a comprehensive, first-of-its-kind precision medicine approach to oncology management for payors in collaboration with Tempus.- Transform Oncology Care includes an innovative precision medicine strategy that increases access to broad-panel gene sequencing tests for patients diagnosed with certain advanced-stage cancers. - The program also uses CVS’ local footprint and unique assets to improve patient outcomes and lower costs every
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Ambry Genetics Launches Paired RNA and DNA Testing for Hereditary Cancer
- Ambry launches a new genetic test, +RNAinsight that changes the standard for “clinical grade” testing, with higher accuracy.- +RNAinsight enables clinicians – for the first time ever – to conduct both DNA and RNA genetic testing at the same time.- Ambry is the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer.Ambry Genetics (Ambry), a clinical genetic testing company, announced today the launch of +RNAinsight, a major advancement in genetic testing.
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StartUp Health Adds 6 New Healthcare Transformers to its Portfolio
StartUp Health, a platform where health transformers, partners, customers, investors, patients, and caregivers connect and accelerate the progress of the health moonshots announced it has added six new companies to its army of Healthcare Transformers.Every quarter, StartUp Health coaches its army of Health Transformers on how to create value, amplify their story, and ultimately achieve their Health Moonshot. Each company is supported for the entire journey of their business, through multiple
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DrChrono, Genomind Partner on EHR-Integrated Personalized Genetic Tests
EHR provider DrChrono Inc. and Genomind, which offers a unique personalized medicine platform that brings innovation to healthcare around the world, today announce a partnership to meet the growing need from both patients and doctors for personalized genetic tests that integrate with electronic health records.AS part of the partnership, physician practices using DrChrono’s platform can order test kits for Genomind’s Genecept Assay®, which helps guide mental health treatment and has been used by
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