[HTML][HTML] Newborn screening by genomic sequencing: opportunities and challenges

D Bick, A Ahmed, D Deen, A Ferlini, N Garnier… - International Journal of …, 2022 - mdpi.com
Newborn screening for treatable disorders is one of the great public health success stories
of the twentieth century worldwide. This commentary examines the potential use of a new …

The use of whole genome and exome sequencing for newborn screening: challenges and opportunities for population health

AC Woerner, RC Gallagher, J Vockley… - Frontiers in …, 2021 - frontiersin.org
Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …

[HTML][HTML] Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project

O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo… - The American Journal of …, 2019 - cell.com
Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …

Perspectives of rare disease experts on newborn genome sequencing

NB Gold, SM Adelson, N Shah, S Williams… - JAMA network …, 2023 - jamanetwork.com
Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable
disorders currently undetected by conventional newborn screening. Despite broad …

Principles of genomic newborn screening programs: a systematic review

L Downie, J Halliday, S Lewis, DJ Amor - JAMA network open, 2021 - jamanetwork.com
Importance Genomic newborn screening (gNBS) may optimize the health and well-being of
children and families. Screening programs are required to be evidence based, acceptable …

Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial

S Pereira, HS Smith, LA Frankel… - JAMA …, 2021 - jamanetwork.com
Importance Newborn genomic sequencing (nGS) may provide health benefits throughout
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

G McInnes, AG Sharo, ML Koleske, JEH Brown… - The American Journal of …, 2021 - cell.com
Genome sequencing is enabling precision medicine—tailoring treatment to the unique
constellation of variants in an individual's genome. The impact of recurrent pathogenic …

Parental attitudes toward standard newborn screening and newborn genomic sequencing: findings from the BabySeq study

B Armstrong, KD Christensen, CA Genetti… - Frontiers in …, 2022 - frontiersin.org
Introduction: With increasing utility and decreasing cost of genomic sequencing,
augmentation of standard newborn screening (NBS) programs with newborn genomic …

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

S White, T Mossfield, J Fleming… - European Journal of …, 2023 - nature.com
Since the introduction of genome sequencing in medicine, the factors involved in deciding
how to integrate this technology into population screening programs such as Newborn …

Challenges of using whole genome sequencing in population newborn screening

R Horton, CF Wright, HV Firth, C Turnbull, R Lachmann… - bmj, 2024 - bmj.com
Challenges of using whole genome sequencing in population newborn screening | The BMJ
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