Population-based genetic testing for Women's cancer prevention

Area of Science:

• Genetics
• Oncology
• Preventive Medicine

Background:

• Germline mutations in cancer-susceptibility-genes (CSG) significantly elevate lifetime risks for ovarian, endometrial, breast, and bowel cancers in women.
• Current family-history models for identifying CSG carriers are ineffective, missing over 50% of carriers and leading to delayed detection and missed prevention opportunities.
• Over 97% of CSG carriers remain unidentified, representing a substantial gap in precision-prevention strategies.

Purpose of the Study:

• To review the clinical, psycho-social, health-economic, societal, and ethical implications of population-based genetic testing (PBGT) for women's cancer precision-prevention.
• To highlight PBGT as a novel healthcare strategy to improve the detection of unaffected CSG carriers and enable population risk-stratification.
• To address the need for large-scale implementation studies of PBGT in the general population, building on existing research in specific cohorts.

Main Methods:

• Review of current research on population-based genetic testing (PBGT) models.
• Analysis of studies assessing the impact, feasibility, acceptability, and cost-effectiveness of PBGT.
• Synthesis of psycho-social, health-economic, societal, and ethical consequences of PBGT for cancer prevention.

Main Results:

• Current family-history-based genetic testing models are inadequate, missing a majority of individuals with cancer-susceptibility-genes (CSG).
• Population-based genetic testing (PBGT) shows potential for significantly improving the identification of unaffected CSG carriers.
• Research on PBGT is emerging, with initial data suggesting feasibility and acceptability, though large-scale implementation studies are needed.

Conclusions:

• Population-based genetic testing (PBGT) represents a paradigm shift from traditional family-history models for identifying cancer-susceptibility-genes (CSG) carriers.
• PBGT holds significant promise for enhancing cancer precision-prevention strategies by enabling early risk identification and targeted interventions.
• Further research and large-scale implementation studies are crucial to fully realize the benefits of PBGT in diverse populations.