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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Ethical considerations in presymptomatic testing for variant CJD

R E Duncan1, M B Delatycki, S J Collins

  • 1Murdoch Children's Research Institute and the Bruce Lefroy Centre for Genetic Health Research, Royal Children's Hospital, Parkville, Australia.

Journal of Medical Ethics
|November 5, 2005
PubMed

Insights

Variant Creutzfeldt-Jakob disease (vCJD) is a fatal neurodegenerative disorder with no current treatment. New diagnostic tests raise ethical questions about patient autonomy versus public health, proposing compulsory screening for high-risk individuals.

Area of Science:

  • Neurodegenerative Diseases
  • Transmissible Spongiform Encephalopathies
  • Public Health Ethics

Background:

  • Variant Creutzfeldt-Jakob disease (vCJD) is a fatal, untreatable neurodegenerative disorder.
  • vCJD transmission is linked to bovine spongiform encephalopathy and human blood transfusions.
  • Presymptomatic diagnosis is crucial due to potential future epidemics.

Purpose of the Study:

  • To elaborate on the ethical implications of developing presymptomatic diagnostic tests for vCJD.
  • To compare vCJD testing ethics with predictive genetic testing for Huntington's disease and HIV screening.
  • To propose a testing paradigm balancing personal autonomy with societal protection.

Main Methods:

  • Ethical analysis of diagnostic test availability.
  • Comparative ethical framework with Huntington's disease and HIV screening.
  • Development of a proposed testing paradigm for vCJD.

Main Results:

  • The availability of reliable, non-invasive vCJD diagnostic tests presents significant ethical challenges.
  • Balancing individual autonomy with public health obligations is paramount.
  • A paradigm for vCJD testing is proposed, drawing parallels with HIV screening.

Conclusions:

  • Compulsory testing of blood/organ donors and high-risk surgical patients is proposed.
  • The proposed paradigm includes unique features for vCJD screening.
  • Ethical considerations necessitate careful deliberation on who to test for vCJD.

Keywords:
Health Care and Public Health

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