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Updated: Aug 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The individual, the family, and genetic testing
1University of Pennsylvania, Philadelphia, USA.
Genetic testing offers insights into disease but requires healthcare provider understanding. This review explores genetic testing implications for individuals and families, focusing on psychological effects and adult-onset cancer risk.
Area of Science:
- Medical Genetics
- Psychological Impact of Genetic Testing
Background:
- Healthcare providers often lack understanding of basic genetic principles and genetic testing science.
- The psychological effects of genetic testing are debated, particularly for newly emerged predictive tests.
- Understanding genetic testing is crucial for individuals, families, and healthcare professionals.
Purpose of the Study:
- To review literature on genetic testing and its implications for individuals and families.
- To examine issues related to genetic testing for adult-onset cancers using Huntington disease as a model.
- To explore responses to genetic susceptibility and implications of testing children.
Main Methods:
- Literature review of selected studies on genetic testing.
- Analysis of psychological effects and family responses to genetic disease diagnosis.
- Case study approach using Huntington disease for adult-onset cancer genetic testing issues.
Main Results:
- Limited empirical data exists on the psychological effects of newly emerged predictive genetic tests.
- Genetic testing for adult-onset cancers presents complex implications for individuals and families.
- Responses to genetic susceptibility and testing children require further investigation.
Conclusions:
- Enhanced understanding of genetic testing science is necessary for healthcare providers.
- Further research is needed on the psychological and familial impact of genetic testing, especially for adult-onset cancers.
- Identifying emerging issues in genetic screening can guide future nursing research in this area.
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