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2021

2021 Year in Review: Whole-genome sequencing of critically ill babies proves its worth

Clinical OMICs

While it is safe to say that RCIGM has sufficiently proven its ability to identify the genetic variants driving many of these life-threatening rare conditions, it is now on a mission to bring its method of diagnosing sick babies to health systems across the country.

December 3, 2021

New Form of Genetic Testing for Infants Earns Medicaid Coverage in Michigan

Precision Medicine Institute E-briefings

In its daily e-briefing for December 2, 2021, the Precision Medicine Institute reviewed the availability of Medicaid coverage for rWGS in Michigan, and the various state projects spearheaded by RCIGM that helped set the stage for Medicaid coverage. 

December 2, 2021

A Rare Moment? Advances Spurring Rare Disease Diagnosis and Treatment

Clinical OMICs

While companies and investors have learned how to profit handsomely from rare diseases, they are still a healthcare desert to most people who suffer from them.

December 1, 2021

Artificial Intelligence Aiding Human Interpretation Of Sequenced Genomes

Diagnostics World

A “quiet revolution” has been underway over the past year, exponentially growing the number of genetic variants discoverable by genome sequencing, according to Stephen Kingsmore, M.D., president and CEO of Rady Children’s Institute for Genomic Medicine in San Diego. Notably, it is now possible to identify an enormous number of structural variants—large genomic alterations that […]

October 28, 2021

Artificial Intelligence Can Rapidly Diagnose Rare Genetic Diseases

Medscape

An artificial intelligence (AI)-based algorithm can quickly diagnose rare genetic diseases in critically ill children with high accuracy, allowing earlier treatment, according to a new report. “This study is an exciting milestone demonstrating how rapid insights from AI-powered decision support technologies have the potential to significantly improve patient care,” Dr. Mark Yandell, professor of human […]

October 21, 2021

Rady Children’s Team Presents Genomic Medicine Management Tool at ASHG

GenomeWeb

A Rady Children’s Institute for Genomic Medicine-led team has developed an automated management guidance system for pediatric patients with rare genetic conditions who have been testing by clinical sequencing. RCIGM President and CEO Stephen Kingsmore outlined the resource and rationale for it during a session on omics-based diagnostic approaches at the American Society of Human Genetics annual […]

October 20, 2021

Genomics for all? Setting the new standard for diagnosis — the gold standard!

RARE Revolution

Clinical Spotlight: Dr. Kingsmore on setting the new standard for diagnosis through accessible rapid genome testing.

October 18, 2021

Study Shows Fabric’s GEM AI Improves Rare Disease Diagnosis

Clinical OMICs

Fabric Genomics and Rady Children’s Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that Fabric’s GEM AI algorithm helped detect more than 90% of disease-causing variants in infants with rare diseases. The study involved six leading genomic centers and hospitals, and used whole-genome and whole-exome data from previously diagnosed newborns and […]

October 14, 2021

Early Genome Sequencing Improves Care for Critically Ill Infants

Clinical OMICs

Infants in the ICU who received whole genome sequencing (WGS) were twice as likely to get a diagnosis and a change of management than those who did not get early sequencing, according to a paper released today from a multi-center collaboration by The NICUSeq Study Group. Early Genome Sequencing Improves Care for Critically Ill Infants

September 30, 2021

Previously Unexplained Birth Defects Rooted in Genetic Mutations

MedPage Today

Disrupted Wnt signaling results in newly termed Zaki syndrome A mutation in the WLS gene causes Zaki syndrome, a newly identified disorder characterized by multiorgan birth defects such as microcephaly, foot syndactyly, and heart defects — suggesting a potential target for treatment.

September 29, 2021