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Super-speedy sequencing puts genomic diagnosis in the fast lane


NATURE: Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.

February 21, 2024


The Cost of Delayed Diagnosis in Rare Diseases: Study Finds Early Diagnosis Could Save $500,000 per Patient

Express Healthcare Management

EXPRESS HEALTHCARE MANAGEMENT: A recent study conducted by the EveryLife Foundation for Rare Diseases has shed light on the potential savings that can be achieved through early diagnosis of rare diseases. The study builds upon existing evidence from Project Baby Bear that supports the benefits of early screening and genetic sequencing for rare diseases. 

September 15, 2023

Early Rare Disease Diagnosis Could Save as Much as $500,000 per Patient

Inside Precision Medicine

INSIDE PRECISION MEDICINE: New research by the EveryLife Foundation for Rare Diseases has found that early rare disease diagnosis could save as much as $500,000 per patient.

September 15, 2023

Too many treatable diseases go unnoticed. This could change that.

Washington Post

WASHINGTON POST: DNA sequencing to diagnose newborns could end up saving much more money — especially if done for babies who are sick. In a study funded by the state of California called Project Baby Bear, researcher Stephen Kingsmore found that sequencing the whole genomes of 178 infants hospitalized in intensive care saved $2.5 million.

July 26, 2023

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?


Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.

February 28, 2023


California, Other States to Cover Rapid WGS of Newborns Under Medicaid, but Questions of Access Loom


GENOMEWEB: California, the nation’s most populous state, recently began covering rapid diagnostic whole-genome sequencing (rWGS) for sick infants under Medicaid. The decision, in theory, should make the test more widely available, leading to faster diagnoses, better medical decisions, and lower healthcare costs in many cases.

May 18, 2022

Dr. Stephen Kingsmore on Scaling Whole-Genome Sequencing for Uncovering Genetic Defects in Infants

Precision Medicine Podcast

PRECISION MEDICINE PODCAST: Dr. Kingsmore joins the Precision Medicine Podcast to discuss the extraordinary role whole-genome sequencing is playing in prolonging and improving the life of critically ill newborns.

March 29, 2022


Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative

CDC Genomics and Precision Health Blog

In 2021, the Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of NHGRI identified its ten most significant peer-reviewed studies for 2021.

December 17, 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

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