Related Experiment Video
Updated: Jul 6, 2025
Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
Leveraging GWAS: Path to Prevention?
Stacey J Winham1, Mark E Sherman2
1Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota.
Abstract:
Developing novel cancer prevention medication strategies is important for reducing mortality. Identification of common genetic variants associated with cancer risk suggests the potential to leverage these discoveries to define causal targets for cancer interception. Although each risk variant confers small increases in risk, researchers propose that blocking those that produce causal carcinogenic effects might have large impacts on cancer prevention. While a promising concept, we describe potential hurdles that may need to be scaled to reach this goal, including: (i) understanding the complexity of risk; (ii) achieving statistical power in studies with binary outcomes (cancer development: yes or no); (iii) characterization of cancer precursors; (iv) heterogeneity of cancer subtypes and the populations in which these diseases occur; (v) impact of static genetic markers across complex events of the life course; (vi) defining gene-gene and gene-environment interactions and (vii) demonstrating functional effects of markers in human populations. We assess short-term prospects for this research against the backdrop of these challenges and the potential to prevent cancer through other means. See related commentary by Peters and Tomlinson, p. 7.
Insights
Leveraging genetic variants for cancer interception is promising for prevention. However, significant challenges remain in understanding risk complexity and demonstrating functional effects for effective medication strategies.
Area of Science:
- Oncology
- Genetics
- Pharmacology
Background:
- Novel cancer prevention medication strategies are crucial for reducing mortality.
- Identifying common genetic variants associated with cancer risk offers potential for cancer interception.
- Targeting causal genetic variants could significantly impact cancer prevention.
Purpose of the Study:
- To explore the potential of using genetic discoveries for cancer interception.
- To identify and discuss the hurdles in developing genetic variant-targeted cancer prevention strategies.
Main Methods:
- Literature review and conceptual analysis of genetic risk factors in cancer.
- Assessment of challenges in translating genetic discoveries into clinical prevention strategies.
- Evaluation of current prospects for genetic-based cancer interception.
Main Results:
- Common genetic variants confer small increases in cancer risk.
- Significant hurdles exist, including understanding risk complexity, statistical power for binary outcomes, precursor characterization, cancer heterogeneity, life course impacts, gene-environment interactions, and demonstrating functional effects.
Conclusions:
- While targeting causal genetic variants for cancer interception is a promising concept, substantial challenges must be addressed.
- Further research is needed to overcome these hurdles and realize the full potential of genetic-based cancer prevention medications.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
01:30Preventive Healthcare Services
01:26Levels of Health Promotion and Illness Prevention
In primary prevention, actions taken before disease onset prevent the disease from...
01:25Strategies for Assessing and Addressing Confounding
Confounding can be addressed at both the design phase of a study and through analytical methods after data...
01:22Healthcare Associated Infections II: Preventive Measures
The best practices for preventing healthcare-associated infections include hand hygiene, patient risk...
01:29Applications of GIS: Disaster Management and Emergency Response