Variations in Cascade Genetic Testing Practices in Families at Risk for Hereditary Cancer
By
Elia Namey
Carolyn Horton
Beth Dudley
Cassidy Carraway
Timothy Komala
Carrie Milliard
Tara Namey
Eve Karloski
Randall Brand
June 30, 2026
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.
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