Related Experiment Video
Updated: Jun 6, 2025
09:40
Novel Sequence Discovery by Subtractive Genomics
Published on: January 25, 2019
8.6K
Newborn Genomic Sequencing Needs Confirmation but Not Repeating
Bruce Bennetts1,2, Gladys Ho1,2, Sarah Shin1
1Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.
Children (Basel, Switzerland)
|November 27, 2024
Summary
Newborn screening (NBS) can leverage genomic data for faster, cost-effective diagnostics. Using single-nucleotide variants (SNVs) transitions screening data to diagnostic-grade, speeding up confirmation and reducing family anxiety.
Area of Science:
- Genomics
- Public Health
- Biochemistry
Background:
- Newborn screening (NBS) has evolved significantly, with genomic testing poised for major expansion.
- Current NBS protocols involve repeat testing for confirmation, which is costly for high-expense genomic assays like whole-genome sequencing.
Purpose of the Study:
- To investigate the transition of screening-grade genomic data from NBS into diagnostic-grade data.
- To assess the utility of single-nucleotide variants (SNVs) for linking diagnostic specimens with NBS genomic data and provenance.
Main Methods:
- Utilized a panel of single-nucleotide variants (SNVs) on a diagnostic specimen.
- Developed a strategy to repurpose screening-grade NBS data for diagnostic purposes.
Main Results:
- Demonstrated that screening-grade NBS data can be converted into diagnostic-grade data using SNVs.
- The proposed strategy offers significant cost benefits for public health authorities.
Conclusions:
- This approach facilitates the rapid use of NBS genomic data in acute care settings when genetic diagnoses are suspected.
- The strategy promises to expedite the confirmation of positive NBS results, thereby reducing parental anxiety associated with delayed diagnostic testing.
Related Concept Videos
03:00Next-generation Sequencing
87.5K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
87.5K
01:57Sanger Sequencing
752.9K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
752.9K
03:21RNA-seq
9.8K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
9.8K