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Oct 28, 2024, 13:31

Wendy Chung: Expanding Newborn Screening with DNA Sequencing

Wendy Chung, Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School, shared a post by on LinkedIn:

”Exciting news!

The initial findings of the GUARDIAN study have been published in JAMA, Journal of the American Medical Association, showcasing the feasibility of DNA sequencing based expanded newborn screening.

This groundbreaking study, the largest of its kind with currently over 13,000 newborns screened, reports on the first 4000 newborns enrolled, demonstrating the potential for early detection of treatable conditions.

Read the full announcement.”

Quoting ‘s post:

”The GUARDIAN study: Genomic newborn screening (newborn screening) using dried blood spots in 4,000 newborns achieved 99.6% sequencing success.

Of the 3.7% screen-positive rate, 110 were true positives missed by traditional newborn screening, enabling early intervention for conditions like severe combined immunodeficiency (SCID) and long QT syndrome.”

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Authors: Alban Ziegler, Carrie Koval-Burt, Denise M. Kay, Sharon F. Suchy, Amber Begtrup, Katherine G. Langley, Rebecca Hernan, Laura M. Amendola, Brenna M. Boyd, Jennifer Bradley, Tracy Brandt, Lilian L. Cohen, Alison J. Coffey, Joseph M. Devaney, Beata Dygulska, Bethany Friedman, Ramsay L. Fuleihan, Awura Gyimah, Sihoun Hahn, Sean Hofherr, Kathleen S. Hruska, Zhanzhi Hu, Médéric Jeanne, Guanjun Jin, D. Aaron Johnson, Haluk Kavus, Rudolph L. Leibel, Steven J. Lobritto, Stephen McGee, Joshua D. Milner, Kirsty McWalter, Kristin G. Monaghan, Jordan S. Orange, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Ankur Shah, Natasha Shapiro, Robert J. Sicko, Eric S. Silver, Samuel Strom, Rebecca I. Torene, Olatundun Williams, Vincent D. Ustach, Julia Wynn, Ryan J. Taft, Paul Kruszka, Michele Caggana, Wendy K. Chung.

Wendy Chung: Expanding Newborn Screening with DNA Sequencing

Alban Ziegler Alison J. Coffey Amber Begtrup Ankur Shah Awura Gyimah Beata Dygulska Bethany Friedman Brenna M. Boyd cancer Carrie Koval-Burt D. Aaron Johnson Denise M. Kay DNA sequencing based expanded Eric S. Silver Guanjun Jin GUARDIAN study Haluk Kavus JAMA Jennifer Bradley Jordan S. Orange Joseph M. Devaney Joshua D. Milner Journal of the American Medical Association Julia Wynn Katherine G. Langley Kathleen S. Hruska Kirsty McWalter Kristin G. Monaghan Kyle Retterer Laura M. Amendola Lilian L. Cohen Médéric Jeanne Michele Caggana Natasha Shapiro Newborn Screening Nicole Pimentel Soler Olatundun Williams OncoDaily Oncology Paul Kruszka QT syndrome Ramsay L. Fuleihan Rebecca Hernan Rebecca I. Torene Robert J. Sicko Rudolph L. Leibel Ryan J. Taft Samantha Ratner Samuel Strom Sean Hofherr severe combined immunodeficiency (SCID) Sharon F. Suchy Sihoun Hahn Stephen McGee Steven J. Lobritto Tracy Brandt Vincent D. Ustach Wendy K. Chung Yeyson Quevedo Zhanzhi Hu

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