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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Published on: February 21, 2015

Genomic testing in neonates.

Jessica Salkind¹, Alison Mintoft^2,3, Giles Kendall²

¹Neonatology, University College London Hospitals NHS Foundation Trust, London, UK jessica.salkind@nhs.net.

Archives of Disease in Childhood. Education and Practice Edition

|May 24, 2024

Summary

Newborns with suspected rare genetic conditions now have expanded testing options thanks to technological advances. This article reviews key genomic testing methods, their uses, and limitations in high-income countries.

Keywords:

Ethics Genetics Neonatology Technology

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Area of Science:

Genetics
Neonatal Medicine
Medical Technology

Background:

Technological advancements have significantly broadened diagnostic capabilities for rare genetic conditions in newborns.
High-income healthcare settings are increasingly adopting advanced testing strategies.

Purpose of the Study:

To summarize the primary genomic testing approaches available for newborns with suspected rare genetic conditions.
To outline the indications and potential limitations of these genomic testing methods.

Main Methods:

Review of current genomic testing technologies.
Analysis of clinical indications for genetic testing in neonates.
Evaluation of the limitations and challenges associated with genomic testing.

Main Results:

Genomic testing offers a wider array of options for diagnosing rare genetic disorders in newborns.
Specific genomic approaches are indicated based on clinical suspicion and family history.
Limitations include cost, accessibility, interpretation complexities, and ethical considerations.

Conclusions:

Genomic testing is transforming the diagnosis of rare genetic conditions in newborns.
Understanding the indications and limitations is crucial for effective implementation in clinical practice.
Further research is needed to address accessibility and interpretation challenges globally.