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Updates from Rady Children's Institute for Genomic Medicine on rapid Whole Genome Sequencing and more.
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Florida and Arizona Medicaid Now Cover Rapid Whole Genome Sequencing

Earlier this summer, Florida and Arizona started offering Medicaid coverage for rapid whole genome sequencing. Find out more about the latest policies.

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Testing Entire Genome Twice as Good at Spotting Genetic Disorders as Targeted Tests Are

U.S. NEWS & WORLD REPORT:  Identifying genetic disorders in newborns and infants can help them get the care they need, but one approach -- whole genome sequencing -- appears far superior to another.

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BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation

In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children's Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).

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BeginNGS® Newborn Screening by Genome Sequencing Shown to be Safe and Effective in Two Clinical Studies

Two studies published in the American Journal of Human Genetics show the potential for genomic screening in newborns to address high rates of infant hospitalization and mortality in the United States and reported a 97 percent reduction in false positives based on a method derived from human evolution.

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Tennessee’s Medicaid program started covering DNA mapping to find genetic conditions

When Christina Kettler gave birth to her first child, Fitz, in the summer of 2019, he seemed happy and healthy.

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Press ReleasesNeuro-Oncology

Artificial intelligence (AI) and other computational techniques are aiding scientists and physicians in their quest to create treatments for individuals rather than populations. 

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Up to Speed

UPDATES FROM RCIGM
Updates from Rady Children's Institute for Genomic Medicine on rapid Whole Genome Sequencing and more.

Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infants

Inozyme is seeking patients with disease-causing variants in the ENPP1 and/or ABCC6 genes for possible participation in a clinical trial.

Florida and Arizona Medicaid Now Cover Rapid Whole Genome Sequencing

Earlier this summer, Florida and Arizona started offering Medicaid coverage for rapid whole genome sequencing. Find out more about the latest policies.

Update on Validations for PHOX2B and DMPK

Rady Children’s Institute for Genomic Medicine is excited to announce that the current version of our rWGS/urWGS test is now validated to include identification of repeat expansions in the PHOX2B gene, associated with Congenital Central Hypoventilation Syndrome (CCHS), and in the DMPK gene, associated with Myotonic Dystrophy Type 1 (DM1).

RCIGM Prepared for Tropical Storm in San Diego

For the first time in more than 80 years, San Diego County is expecting a tropical storm to arrive. RCIGM is prepared with back up devices and resources to support any possible outages and downtimes to the best of our ability.

Welcome to Up to Speed, RCIGM’s Quick Update Blog

Here at Rady Children's Institute for Genomic Medicine®, we're known for our rapid turnaround on tests. Our aim with this blog is to provide you with quick, speedy updates on things relevant to our core work: clinical genomic services, lab tests, rWGS reimbursement, and more. Stay tuned for more.

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Jenny Mehlow
jmehlow@rchsd.org

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