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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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...
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Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
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Related Experiment Video

Updated: Dec 15, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic testing in the acute setting: a round table discussion.

John Henry McDermott1

  • 1Manchester Centre for Genomic, Manchester University NHS Foundation Trust, Manchester, UK john.mcdermott2@mft.nhs.uk.

Journal of Medical Ethics
|July 12, 2020
PubMed
Summary

A new genetic point of care test (POCT) can quickly identify a variant that causes hearing loss from aminoglycoside antibiotics in neonates. This allows for alternative antibiotic choices in acute care settings.

Keywords:
clinical ethicsgenethicsgenetic informationgenetic screening/testingneonatology

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Area of Science:

  • Pharmacogenetics
  • Neonatal Intensive Care
  • Genetic Diagnostics

Background:

  • Genetic testing is typically slow, limiting its use in acute medical situations.
  • The m.1555A>G genetic variant predisposes individuals to hearing loss from aminoglycoside antibiotics.
  • Approximately 180 UK neonates annually are at risk of antibiotic-induced hearing loss due to this variant.

Purpose of the Study:

  • To implement a genetic point of care test (POCT) for the m.1555A>G variant in neonatal intensive care units.
  • To assess the feasibility of using rapid genetic information to alter acute management.
  • To explore ethical and legal issues surrounding genetic testing in acute care.

Main Methods:

  • Implementing a POCT for the m.1555A>G variant in two UK neonatal intensive care units.
  • Conducting a trial to evaluate the impact of POCT on clinical management decisions.
  • Facilitating a roundtable discussion with stakeholders on ethical and legal considerations.

Main Results:

  • The study represents the first trial of a genetic POCT aimed at altering acute management.
  • Discussion highlights novel ethical issues and legal barriers to implementation.
  • Stakeholder perspectives on acute genetic testing were gathered.

Conclusions:

  • Rapid genetic testing holds potential for personalized medicine in acute settings.
  • The m.1555A>G POCT can prevent antibiotic-induced hearing loss in at-risk neonates.
  • Addressing ethical and legal challenges is crucial for implementing acute genetic testing.