Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
(Abstracted from JAMA 2025;333(3):232–240 Newborn screening (NBS) checks for congenital conditions that can be treated before symptoms start and lead to irreversible effects; these include conditions such as metabolic disease, cystic fibrosis, hearing impairment, endocrine disorders, hemoglobinopathies, severe combined immunodeficiency, and other conditions that are often genetic. Genetic sequencing is typically second-tier in terms of NBS, being used chiefly to identify genes involved in a condition such as cystic fibrosis.
Authors
- Vincent D. Ustach (ORCID: https://orcid.org/0000-0001-8299-3998)
- Eric S. Silver (ORCID: https://orcid.org/0000-0002-6092-4462)
- Joshua D. Milner (ORCID: https://orcid.org/0000-0002-3913-3869)
- Kristin G. Monaghan
- Ryan J. Taft (ORCID: https://orcid.org/0000-0003-4538-3343)
- Sihoun Hahn
- Daniel Johnson (ORCID: https://orcid.org/0000-0002-1206-3514)
- Zhanzhi Hu (ORCID: https://orcid.org/0000-0003-2171-0071)
- Laura M. Amendola (ORCID: https://orcid.org/0000-0002-5506-6168)
- Rebecca Hernan (ORCID: https://orcid.org/0000-0002-9668-7729)
- Lilian Cohen (ORCID: https://orcid.org/0000-0003-3485-8104)
- Kyle Retterer (ORCID: https://orcid.org/0000-0001-5252-2001)
- Jennifer Bradley
- Haluk Kavuş (ORCID: https://orcid.org/0000-0003-3650-7498)
- Carrie Koval‐Burt
- Joseph M. Devaney (ORCID: https://orcid.org/0000-0003-3648-2737)
- Alison J. Coffey (ORCID: https://orcid.org/0000-0002-1338-8513)
- Beata Dygulska
- Steven Lobritto (ORCID: https://orcid.org/0000-0003-1482-1128)
- Natasha Shapiro
- Olatundun Williams (ORCID: https://orcid.org/0000-0003-2163-3918)
- Alban Ziegler (ORCID: https://orcid.org/0000-0003-0287-3561)
- Brenna Boyd
- Samuel P. Strom (ORCID: https://orcid.org/0000-0003-3254-7564)
- Samantha Ratner (ORCID: https://orcid.org/0000-0002-8608-2689)
- Robert J. Sicko (ORCID: https://orcid.org/0000-0001-7521-9742)
- Bethany Friedman
- Jordan S. Orange (ORCID: https://orcid.org/0000-0001-7117-7725)
- Sean Hofherr
- Kathleen S. Hruska (ORCID: https://orcid.org/0000-0001-8468-2843)
- Stephen McGee (ORCID: https://orcid.org/0000-0003-3553-0354)
- Denise M. Kay (ORCID: https://orcid.org/0000-0002-9928-2698)
- Rebecca I. Torene (ORCID: https://orcid.org/0000-0002-4370-3625)
- Yeyson Quevedo
- Ramsay Fuleihan (ORCID: https://orcid.org/0000-0002-8477-9239)
- Paul Kruszka (ORCID: https://orcid.org/0000-0003-4949-0875)
- Katherine G. Langley (ORCID: https://orcid.org/0000-0002-2494-807X)
- Kirsty McWalter (ORCID: https://orcid.org/0000-0002-1654-9036)
- Awura Gyimah
- Wendy K. Chung
- Michele Caggana
- Ankur D. Shah (ORCID: https://orcid.org/0000-0002-0811-6900)
- Rudolph L. Leibel
- Amber Begtrup
- Guanjun Jin
- Tracy Brandt
- Sharon F. Suchy
- Nicole Pimentel Soler
- Médéric Jeanne (ORCID: https://orcid.org/0000-0002-4844-6373)
Publication Details
- Journal
- Obstetrical & Gynecological Survey
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1097/01.ogx.0001125100.47677.8b
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63