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Updated: Feb 22, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic Test, Risk Prediction, and Counseling.
Maggie Haitian Wang1, Haoyi Weng2
1Division of Biostatistics, The Jockey Club School of Public Health and Primary Care, The Chinese University of Hong Kong, Prince of Wales Hospital, Sha Tin, Hong Kong SAR, China. maggiew@cuhk.edu.hk.
Genetic testing and risk prediction are advancing personalized medicine. Future developments in analytical methods, omics data, and clinical integration will further enable precision medicine.
Area of Science:
- Genomics and Personalized Medicine
- Biotechnology and Medical Diagnostics
Background:
- Technological advancements are driving a new era of genetic testing for personalized medicine.
- Genetic tests, disease risk prediction, and genetic counseling are key components of this evolving field.
Purpose of the Study:
- To review the current development, challenges, and future outlook of genetic testing.
- To explore disease risk prediction models and genetic counseling practices.
- To highlight the integration of these elements for advancing precision medicine.
Main Methods:
- Review of success cases in molecular tumor classification, pharmacogenomics, and Mendelian disorders.
- Introduction to common methods for genetic risk prediction and evaluation measures.
- Overview of key components in genetic counseling, including communication and psychosocial aspects.
Main Results:
- Demonstrated success in specific areas like tumor classification and pharmacogenomics.
- Identified challenges in genetic test implementation, risk model stability, and clinical utility.
- Highlighted the importance of individual communication, psychosocial support, and risk assessment in genetic counseling.
Conclusions:
- Genetic testing and risk prediction show a promising future for precision medicine.
- Advancements in analytical methods, omics data integration, and clinical regulation are crucial for future progress.
- Continued development is expected to enhance the clinical application and impact of genetic insights.
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