Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.

ABSTRACT:

Background

Newborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of precision medicine, genomic sequencing has been introduced to this area with the hopes of detecting variants related to a vastly expanded number of conditions. Though implementation of genomic sequencing for newborn screening in public health and clinical settings is limited, commercial laboratories have begun to offer genomic screening panels for neonates.

Methods

We examined genes listed on four commercial laboratory genomic screening panels for neonates and assessed their clinical actionability using an established age-based semi-quantitative metric to cat

SUBMITTER: DeCristo DM 

PROVIDER: S-EPMC8008582 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature