Newborn testing and screening by whole-genome sequencing

Newborn screening by whole-genome sequencing: ready for prime time?

a modest 1 or at most 2 per issue to about 5. Podcasts are ideal to catch up on the latest from Clinical Chemistry while driving or commuting, as well as to gain some unpublished insights from the author. We hope that you have enjoyed this audio feature, and if you have not yet listened, we invite you to sample those that might interest; look for the distinctive red earbud icon in the Table of

Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.

BACKGROUND AND OBJECTIVE The potential application of whole-genome sequencing (WGS) to state-mandated standard newborn screening (NBS) challenges the traditional public health approach to NBS and raises ethical, policy, and clinical practice issues. This article examines the perspectives and values of diverse healthy pregnant women and parents of children diagnosed with a primary immunodeficien...

Newborn screening: from Guthrie to whole genome sequencing.

Newborn screening: adapting to advancements in whole-genome sequencing.

September is newborn screening awareness month. Since 1963, state public health programs have screened newborns for a number of life-altering health conditions. Many of these disorders are rare and genetic, and if caught in the first weeks of life they can be treated or managed to prevent death or a lifetime of disability. Early detection can also help families avoid the lengthy and stressful ‘...

Whole-Genome Sequencing in Newborn Screening—Attitudes and Opinions of Bulgarian Pediatricians and Geneticists

Objective The aim of this study was to assess the attitudes and opinions on the potential use of whole-genome sequencing (WGS) in conjunction with the traditional newborn screening (NBS). We conducted an online survey among pediatricians and geneticists from Bulgaria. The study was based on the concept of non-selective WGS for all newborns and analysis of all genes. Results/conclusion In tota...