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Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

P Borry1, L Stultiens, H Nys

  • 1Centre for Biomedical Ethics and Law, Universiteit Leuven, Leuven, Belgium. Pascal.Borry@med.kuleuven.be

Clinical Genetics
|October 10, 2006
PubMed

Insights

Presymptomatic and predictive genetic testing in minors is ethically reviewed. Guidelines prioritize direct medical benefit, recommending postponement if no urgent need exists, though consensus varies for untreatable conditions.

Area of Science:

  • Medical Ethics
  • Human Genetics
  • Pediatric Medicine

Background:

  • Presymptomatic and predictive genetic testing in minors raises ethical considerations.
  • Existing guidelines and position papers address the implications of such testing.

Purpose of the Study:

  • To review ethical and clinical guidelines on presymptomatic and predictive genetic testing for minors.
  • To identify consensus and ambiguity in current recommendations.

Main Methods:

  • Comprehensive literature search of databases (Medline, Web of Science, etc.) and relevant organizational websites.
  • Analysis of 27 guidelines and position papers published between 1991 and 2005 from 31 organizations.

Main Results:

  • The primary justification for testing minors is direct medical benefit via intervention or prevention.
  • Most guidelines advocate delaying testing until the minor can provide consent if no urgent medical need exists.
  • Ambiguity persists regarding testing for childhood-onset disorders without available treatments.

Conclusions:

  • Strong agreement exists that medical benefit justifies genetic testing in minors.
  • A lack of consensus remains for cases involving childhood-onset disorders lacking preventive or therapeutic options.
  • Further discussion is needed to clarify guidelines for these specific scenarios.

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