Differences in Cascade Genetic Testing Among Families With Hereditary Cancer Risk
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By
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Elia Namey
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Carolyn Horton
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Beth Dudley
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Cassidy Carraway
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Timothy Komala
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Carrie Milliard
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Tara Namey
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Eve Karloski
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Randall Brand
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June 30, 2026
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Clinical Scorecard: Variations in Cascade Genetic Testing Practices in Families at Risk for Hereditary Cancer
At a Glance
| Category | Detail |
| Condition | Hereditary Cancer Predisposition |
| Key Mechanisms | Germline genetic testing informs medical management and enables cascade testing for family members. |
| Target Population | Individuals with pathogenic or likely pathogenic variants in cancer predisposition genes and their biological family members. |
| Care Setting | Diagnostic testing laboratories |
Key Highlights
- Cascade testing is crucial for reducing cancer morbidity and mortality.
- Demographic factors influence the uptake of genetic testing among probands.
- Lower rates of genetic testing are observed in racial and ethnic minority groups and individuals with lower socioeconomic status.
- Free testing policies may increase cascade testing rates among vulnerable populations.
- The study assessed demographic, clinical, and economic factors associated with cascade testing uptake.
Guideline-Based Recommendations
Diagnosis
- Identify pathogenic or likely pathogenic variants in probands through genetic testing.
Management
- Implement appropriate interventions, including cancer surveillance and risk-reducing surgical procedures for asymptomatic individuals.
Monitoring & Follow-up
- Enhance cancer surveillance in individuals with identified pathogenic variants to improve early detection.
Risks
- Demographic disparities may lead to missed opportunities for cancer prevention in vulnerable populations.
Patient & Prescribing Data
Proband cohort undergoing mutigene panel testing for hereditary cancer genes.
Uptake of cascade testing varies by demographic, socioeconomic, and clinical factors.
Clinical Best Practices
- Encourage family members of probands to undergo genetic testing after identification of a pathogenic variant.
- Utilize free testing policies to improve cascade testing rates.
Related Resources & Content