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Genetic testing in the acute setting: a round table discussion
  1. John Henry McDermott
  1. Manchester Centre for Genomic, Manchester University NHS Foundation Trust, Manchester, UK
  1. Correspondence to Dr John Henry McDermott, Manchester Centre for Genomic, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; john.mcdermott2{at}mft.nhs.uk

Abstract

Genetic testing has historically been performed in the context of chronic disease and cancer diagnostics. The timelines for these tests are typically measured in days or weeks, rather than in minutes. As such, the concept that genetic information might be generated and then used to alter management in the acute setting has, thus far, not been feasible. However, recent advances in genetic technologies have the potential to allow genetic information to be generated significantly quicker. The m.1555A>G genetic variant is present in one in 500 individuals and predisposes to profound hearing loss following the administration of aminoglycoside antibiotics. These antibiotics are used frequently in cases of neonatal sepsis and it is estimated that approximately 180 neonates in the UK are at risk of antibiotic induced hearing loss each year because of this genetic change. Knowledge of this variant in the acute setting would allow clinicians to prescribe alternative antibiotics. The Pharmacogenetics to Avoid Loss of Hearing study will implement a genetic point of care test (POCT) for the m.1555A>G variant within two major UK based neonatal intensive care units. This represents the first trial of a genetic POCT aimed at altering management in the acute setting. This round table discussion outlines the novel ethical issues faced in the development of this trial and the legal barriers to implementation. We ask five stakeholders to provide their opinions on this trial and their perspectives on the concept of genetic testing in the acute setting.

Trial registration number

ISRCTN-13704894.

  • clinical ethics
  • genethics
  • genetic information
  • genetic screening/testing
  • neonatology
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Footnotes

  • Twitter @John_H_McD

  • Contributors JHM wrote the introduction. Authors have been invited to respond.

  • Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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