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Carrier testing in children and adolescents
Danya F Vears1, Sylvia A Metcalfe2
1Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium; Centre for Health Equity, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Australia.
European Journal of Medical Genetics
|November 14, 2015
Summary
Carrier testing in minors is debated, with guidelines recommending postponement. This review examines situations, guidelines, and evidence for and against childhood genetic carrier screening.
Area of Science:
- Genetics
- Pediatric Medicine
- Bioethics
Background:
- International guidelines often suggest delaying carrier testing in minors until adulthood.
- Current professional guidelines, including those from the American Society of Human Genetics, do not support carrier screening in adolescents.
- Despite recommendations, carrier testing in minors does occur, either intentionally or incidentally.
Purpose of the Study:
- To review situations where carrier status is identified in childhood.
- To outline professional guidelines regarding carrier testing in minors.
- To analyze arguments for and against childhood carrier testing and compare them with empirical evidence.
Main Methods:
- Literature review of professional guidelines on genetic carrier testing in minors.
- Analysis of arguments presented for and against carrier testing in children.
- Comparison of stated positions with available empirical data.
Main Results:
- Guidelines generally advise against carrier testing in minors, prioritizing informed consent and decision-making capacity.
- Carrier status can be identified in minors through both targeted testing and as a byproduct of other genetic analyses.
- There is a divergence between recommended practices and actual testing scenarios in pediatric populations.
Conclusions:
- Carrier testing in minors presents ethical and practical challenges.
- The decision-making process for childhood genetic testing requires careful consideration of autonomy and potential psychological impact.
- Further empirical research is needed to fully understand the implications of early carrier identification.
