PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 15716909

Neonatal screening by DNA microarray: spots and chips.

Nancy S Green·Kenneth A Pass
View original source ↗Export metadata ↓

Abstract

Newborn screening (NBS) is a public-health genetic screening programme aimed at early detection and treatment of pre-symptomatic children affected by specific disorders. It currently involves protein-based assays and PCR to confirm abnormal results. We propose that DNA microarray technology might be an improvement over protein assays in the first stage of NBS. This approach has important advantages, such as multiplex analysis, but also has disadvantages, which include a high initial cost and the analysis/storage of large data sets. Determining the optimal technology for NBS will require that technical, public health and ethical considerations are made for the collection and extent of analysis of paediatric genomic data, for privacy and for parental consent.

Explore related subjects

Genetic TestingHumansInfant, NewbornMetabolism, Inborn ErrorsNeonatal ScreeningOligonucleotide Array Sequence AnalysisJournal ArticleResearch Support, U.S. Gov't, P.H.S.Review

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Nancy S Green, Kenneth A Pass. 2005. Neonatal screening by DNA microarray: spots and chips.. https://doi.org/10.1038/nrg1526

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

INTRODUCTION: Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of inherited cases remain unsolved, limiting eligibility for gene therapy trials that require genetic diagnosis. Biobanks and electronic medical records (EMRs) offer opportunities to integrate genomic and clinical data at scale and expand the spectrum of hearing loss genes. Despite clinical value, EMRs often lack key information such as inheritance patterns, posing challenges for accurate interpretation. METHODS: WES was performed on DNA samples from 1038 hearing-impaired patients enrolled in the Maccabi Research and Innovation Center Tipa Biobank. Clinical data were extracted from EMRs. Audiograms were available for all cases, although data on age of onset, family history and mode of inheritance were mostly unavailable. We applied a scalable bioinformatics analysis strategy for high-throughput annotation, filtering and prioritisation of WES variants across more than 1000 patients, designed to accommodate incomplete and heterogeneous clinical records. RESULTS: Using this approach, 15% of cases were solved or potentially solved through known or novel variants in established deafness genes. Homozygous variants in novel candidate genes were identified in 3% of cases. Functional characterisation was performed for promising candidate genes to validate their role in the ear. CONCLUSION: These findings demonstrate that WES can determine disease aetiology in large, genetically heterogeneous populations, even in the context of incomplete clinical data. This approach supports large-scale genetic screening and provides a framework for identifying patients who may benefit from emerging gene-based therapies.

Genetic Testing↗
PubMed2006

Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy.

In this manuscript, I examine four overlapping policy and ethical issues regarding screening newborns (and infants) for Duchenne muscular dystrophy (DMD). First, what are the risks and benefits of expanding newborn screening (NBS) to include DMD? Second, if NBS were to expand to include DMD, should it require informed consent? Third, should NBS for DMD be limited to boys? Why or why not? Fourth, when is the ideal timing for screening (prenatal, newborn, or later in infancy) and what factors influence this determination? I argue that decisions about when, how, and whom to test reflect a tension between maximizing uptake and diagnosis versus maximizing autonomy and choice with respect to genetic information. I conclude that screening for DMD is a valid moral option, but not as part of the mandatory NBS population program. Rather, I propose that screening for DMD should be offered only on a voluntary basis beyond the newborn period. I support offering this screening to families of young boys and girls to ensure that all children and their families can benefit from early diagnosis and its reproductive implications. A rigorous consent process will be necessary to ensure that the decision whether or not to test is a voluntary and informed choice.

Genetic Testing↗