Current Approaches to Germline Cancer Genetic Testing
Elena M Stoffel1, John M Carethers1,2
1Division of Gastroenterology and Hepatology, Department of Internal Medicine, and Rogel Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;
Genetic predisposition to cancer is common, but many remain undiagnosed. Expanding genetic testing can improve early detection and reduce cancer morbidity through precision medicine.
Area of Science:
- Oncology
- Genetics
- Genomic Medicine
Background:
- Genetic predisposition to cancer is more prevalent than previously thought.
- Deleterious germline variants in cancer predisposition genes are found in 10% of advanced cancer cases.
- Most individuals with a genetic predisposition to cancer remain undiagnosed, missing opportunities for early intervention.
Purpose of the Study:
- To highlight the significant prevalence of undiagnosed genetic cancer predisposition.
- To emphasize the role of next-generation sequencing in improving genetic testing accessibility.
- To advocate for expanded clinical genetic testing and education in genomic medicine.
Main Methods:
- Review of current understanding of genetic cancer predisposition.
- Discussion of the impact of next-generation sequencing (NGS) technologies.
- Analysis of the benefits of expanded genetic testing and clinical education.
Main Results:
- Next-generation sequencing has made germline and tumor DNA sequencing more accessible and affordable.
- Increased access to clinical genetic testing can identify more individuals with genetic predispositions.
- Precision cancer therapies and surveillance can effectively reduce morbidity in identified individuals.
Conclusions:
- Expanded genetic testing is crucial for identifying individuals with hereditary cancer syndromes.
- Genomic medicine offers opportunities for precision cancer therapies and improved surveillance strategies.
- Cross-disciplinary education in genomic medicine is essential for translating research advances into clinical practice and improved patient outcomes.
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