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Cancer risk assessment using genetic panel testing: considerations for clinical application.
Susan Hiraki1, Erica S Rinella, Freya Schnabel
1Department of Pathology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Ullmann 819, Bronx, NY, 10046, USA, susan.hiraki@einstein.yu.edu.
Journal of Genetic Counseling
|March 7, 2014
Summary
Multiplex genetic testing, sequencing multiple genes at once, is increasingly used for cancer risk assessment. This review covers practical aspects of using genetic cancer panels for breast, ovarian, and colon cancer risk, including counseling and management.
Area of Science:
- Genetics
- Oncology
- Clinical Diagnostics
Background:
- Advancements in high-throughput sequencing and the Human Genome Project have enabled multiplex genetic testing.
- Multiplex testing, analyzing multiple genes simultaneously, is expanding clinically, notably for cancer risk assessment.
- Genetic cancer panels exemplify multiplex testing's application, reflecting complex gene-cancer risk interactions.
Purpose of the Study:
- To address the practical considerations for the clinical implementation of multiplex genetic testing panels.
- To review the benefits, limitations, and challenges associated with genetic cancer panel testing.
- To discuss genetic counseling implications and management guidelines for panel testing in breast, ovarian, and colon cancers.
Main Methods:
- Review of current literature and clinical practices regarding multiplex genetic testing for cancer risk.
- Analysis of the complexities arising from transitioning from single-gene to panel testing approaches.
- Examination of specific considerations for breast, ovarian, and colon cancer genetic panels.
Main Results:
- Multiplex genetic testing offers a broader assessment of cancer predisposition compared to single-gene tests.
- Panel testing introduces complexities in interpreting results, managing incidental findings, and genetic counseling.
- Established guidelines for genetic counseling and clinical management are crucial for effective panel testing.
Conclusions:
- Genetic cancer panels are valuable tools for assessing hereditary cancer risk, particularly for breast, ovarian, and colon cancers.
- Addressing the challenges of panel testing, including genetic counseling and result interpretation, is essential for optimal clinical utility.
- Standardized guidelines and ongoing research are necessary to maximize the benefits of multiplex genetic testing in oncology.
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