Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022 - Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases - Newborn screening (NBS) and its genetic version, genetic NBS (gNBS), are now used to identify a broad range of conditions, including metabolic, endocrine, and...

Martin, S, Kyosovska-Peshtenska, G, Audi, J et al. Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022. Orphanet J Rare Dis 21, 27 (2026) doi.org/10.1186/s130...

#SystematicReview #gNBS

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study - Nature Medicine The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of babies.

Proud to share our BabyScreen+ #gNBS study is now out in @naturemedicine.bsky.social: 1000 babies screened, results in <2wks, 16 high chance findings, incl. 2 with major impact on care. Big thanks to @zornitza.bsky.social and the study team!

www.nature.com/articles/s41...

Late 1980s college Bible study worship sessions. . .
#MiltonBrunson
#georgiasouthern
#GNBS
music.youtube.com/watch?v=UHCK...

Next up in #gNBS at #ESHG2025
Wendy Chung (Guardian study)

Variant-Phenotype(-Penetrance) need to be considered. Gene-Disease too simplistic

SCN1A challenging, often inherited

Recessive disease is tricky (in trans?) gnomAD concurrence is helpful

Exciting research in #genomic_newborn_screening (gNBS)! Ilias and Riccarda contributed to this paper exploring public perspectives on which conditions should be included in #gNBS. Read more here: link.springer.com/article/10.1...

On 12. November Eva Winkler spoke as Keynote Speaker about the "New #Ethics for #Genomic #Newborn #Screening?" at The Bartha Knoppers Annual Lecture 2024 at the #McGill University in Montreal, Canada 👶🧬
#gNBS #bioethics
@mcgillu.bsky.social
www.youtube.com/watch?v=-e5Q...

#EthicsSectionWinkler @ #AEM2024 @aem-online.bsky.social

Karla Alex et al.: Das #moralische #Recht auf #genomisches #Nichtwissen #Neugeborener - Begründung, Konzeptualisierung, Implikationen.

#Medizinethik #MedicalEthics

Mehr zu NEW_LIVES #gNBS:
www.klinikum.uni-heidelberg.de/en/new-lives...

#EthicsSectionWinkler @ #AEM2024 @aem-online.bsky.social
Sascha Settegast: #Medicalization Risks in #Genomic #Newborn #Screening. 👶🧬

#Medizinethik #MedicalEthics #gNBS #AEM
More information on NEW_LIVES:
www.klinikum.uni-heidelberg.de/en/new-lives...

Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS ...

New #publication of our #NEW_LIVES project 👶🧬

"Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?"

by Schnabel-Besson et al. @Int. J. Neonatal Screen.

#newbornscreening #NBS #neonatalscreening #genomicnewbornscreening #gNBS

doi.org/10.3390/ijns...

#gnbs 🥱

Neugeborenenscreening: Das Erbgut aller Babys testen? Fachleute beraten über eine Ausweitung der Reihenuntersuchung von Neugeborenen auf ein

Heutiger Tagesschau-Artikel zu unserem NEW_LIVES-Projekt: Neugeborenenscreening - Das Erbgut aller Babys untersuchen? #NEW_LIVES #gNBS #Neugeborenenscreening #Medizinethik 🧬👶
www.tagesschau.de/wissen/gesun...