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AJMCtv: Stephen Kingsmore discusses the types of disparities seen in genetic testing as the BeginNGS phase 2 clinical trial is underway.
Becker’s Healthcare Podcast: RCHSD President and CEO Patricio A. Frias shares the exciting innovative research being conducted at Rady Children’s Institute for Genomic Medicine.
Stephen Kingsmore, MD, DSc, president and CEO, at Rady Children’s Institute for Genomic Medicine, shares details of the BeginNGS newborn screening program and its future goals.
SAN DIEGO UNION-TRIBUNE: Rady Children’s hospital has set its sights on expanding the use of a screening test that it says can detect 411 genetic disorders in newborns.
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.
MedPage Today: Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found.
GENETIC ENGINEERING & BIOTECHNOLOGY NEWS: A national study, led by researchers at Tufts Medical Center, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.
STAT NEWS: There’s growing evidence that DNA sequencing can help diagnose the health care system’s youngest patients — babies in their first year of life. But a new report resurfaces a thorny challenge in researchers’ quest to turn long strings of A’s, T’s, G’s, and C’s into information doctors and patients can use: Reading the genome is one challenge, interpreting it is another.
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.
INSIDE PRECISION MEDICINE: While the field of rare diseases has seen much progress both in diagnostics and the development of new therapies, there are still significant challenges that need to be overcome to reach the majority of the 300 million people worldwide who are affected by these conditions.
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