Genomic Testing in Asymptomatic Individuals—A Key Tool for Hereditary Cancer Prevention

Dr. Mario Hugo Genero, MD – >>>Cofounder-CEO aiGEN – Kendall Square – Cambridge – USA

Why is genomics essential for hereditary cancer prevention?

  • Genomics: Proactive Steps Against Hereditary Cancer
  • Detecting Cancer Risk Before Symptoms Start
  • Family Health Matters: The Power of Preventive Genomics
  • Safeguard Your Future With Genetic Insights
  • Hereditary Cancer: Early Detection, Better Outcomes

While most cancers arise due to a combination of environmental, lifestyle, and genetic factors, about 5% to 10% are attributable to inherited genetic variants passed down through generations that significantly increase the risk of certain cancer types.

Preventive genomic screening, even in asymptomatic individuals, allows for the early detection of these pathogenic variants. Knowing one’s genetic predisposition not only enables more effective surveillance for the individual but also provides valuable information for their family members.

Main Benefits of Genomic Screening for Healthy Individuals

  • Early identification of risk: Detecting pathogenic variants in cancer-related genes (such as BRCA1, BRCA2, MLH1, or APC) helps identify high-risk individuals before disease appears.
  • Personalized prevention strategies: Individuals aware of their genetic risk can access enhanced surveillance, start screening earlier, and discuss preventive options with their healthcare team.
  • Impact on the whole family: Discovery in one family member guides preventive screening for biological relatives, contributing to a reduced burden of cancer across the family.
  • Informed medical decision-making: Genomic results combine with clinical and family history for more efficient and safer follow-up strategies.

When to Consider Genomic Testing?

  • When multiple family members across generations have had cancer.
  • When certain cancers (breast, ovarian, colon, prostate, pancreas) occur at unusually young ages.
  • When an individual develops several primary cancer types.
  • In families with known pathogenic genetic variants.

Conclusion

Preventive genomics is transforming our approach to hereditary cancer care. Detecting risk variants in asymptomatic people offers the chance to get ahead of disease, reduce impact, and provide concrete options to protect personal and family health.

Investing in genomic testing is not just a medical resource—it’s a powerful, long-term strategy for prevention and family care.

Key References (2022–2025)

  • Savatt JM et al. “Genomic Screening at a Single Health System.” JAMA Network Open. 2025;8(3):e2831645.
  • Delacroix E et al. “Clinician Recommendation for Hereditary Genetic Testing.” Frontiers in Oncology. 2025;15:12190242.
  • Zhou K et al. “Evaluating variant pathogenicity prediction tools to support clinical genetic testing in cancer.” npj Genomic Medicine. 2025;10:88.
  • Wegman-Ostrosky T et al. “Germline Genetic Variants in Cancer Predisposition Genes in Latin America and the Caribbean: A Review.” JCO Global Oncology. 2025.
  • Culver JO et al. “Systematic evidence review and meta-analysis of pre- and post-test genetic counseling in genetic cancer risk assessment.” Genetics in Medicine. 2023;25(9):1610-1625.
  • Hughes BN et al. “Systematic mapping review of guidelines for BRCA1/2 genetic testing in hereditary breast and ovarian cancer.” Cancer Genetics. 2023;268–269:40–53.

Hereditary Cancer / Genomic Testings