DARK DAILY: Research in the UK and US into how rapid WGS can prevent deaths and improve outcomes for kids with rare genetic diseases may lead to more genetic testing based in local clinical laboratories.
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.
A study of 112 infant deaths found that 41% were associated with a genetic disease, a higher rate than previously recognized, according to a study published in JAMA Network Open.
Researchers who believe genomics can transform human health love to recount success stories. They’ll tell you about the 3-month-old boy whose heart was failing until researchers pinpointed what was ailing him. Or the baby girl who could have had a life-threatening reaction to anesthesia had researchers not sequenced her DNA ahead of time.
Today we highlight three potentially practice-changing studies…. When the reason for a child’s critical illness is unclear, rapid genetic testing often helps identify the problem and point doctors to the right treatment – but it is currently underused, researchers say.
USA TODAY: Every baby born in the United States is pricked in the heel shortly after birth. A blood sample is then analyzed to look for one of 20 to 30 inherited diseases. Now, doctors want to go even further: They want to look not just at blood, but at genes.
GENOMEWEB: An international team has tracked down rare glioma-related variants in seven genes through a genome sequencing study that tapped into a collection of familial glioma that began well over a decade ago.
NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.
SCITECH DAILY: International research teams have uncovered a new cause for pediatric seizures: mosaicism, a condition in which cells within the same individual have different genetic compositions.
FORBES: A U.K. program will begin genome sequencing on 100,000 babies this year, but some experts believe the practice could prove unethical.
PEDIATRIC MELTDOWN PODCAST: Podcast host Dr. Lia Gaggino talks with Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury about Project Baby Deer.
The Harry Glorikian Show: Stephen Kingsmore talks with Harry Glorikian about the power of rapid Whole Genome Sequencing™, how far we’ve come in adoption, and much more.
KGI: INNOVATION IN APPLIED LIFE SCIENCES & HEALTHCARE PODCAST: In this episode, Dr. Stephen Kingsmore discusses reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years.
RARE DISEASE REPORT: Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.
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