Cost of Cascade Genetic Testing in the United States
The approximate cost of cascade genetic testing varies by condition and testing platform, but genetic testing for at-risk relatives typically ranges from $100 to $500 per single-gene test, with multigene panels costing approximately the same or up to twice as much as single-gene tests 1.
Specific Cost Considerations
Direct Testing Costs
- Single-gene tests: Approximately $100-$500 per test 1
- Multigene panels: Similar to or up to twice the cost of single-gene tests (approximately $100-$1,000) 1
- Online genetic counseling: Provides approximately 10.2% cost savings compared to in-person counseling 1
Cost-Effectiveness Data
The cost-effectiveness of cascade screening depends heavily on the specific hereditary condition and the degree of relatedness:
- Lynch syndrome: Testing 12 relatives per index case reduces the incremental cost-effectiveness ratio from $30,331 to $12,332 per life-year saved 1
- Familial hypercholesterolemia: Cascade testing is cost-effective when initiated before age 40 in first-degree relatives and before age 15 in second-degree relatives, with costs per life-year gained under $50,000 2
- General cascade screening: Studies found that 33 of 38 studies examining costs concluded that cascade screening costs were acceptable 1
Important Cost-Related Barriers and Facilitators
Financial Barriers
- Out-of-pocket costs and limited insurance coverage were cited as barriers in multiple studies 1
- Pricing variability: Laboratories price tests differently depending on the payer, with substantial undisclosed cost differences across insurance plans 1
- Geographic variation: Costs vary significantly across different states and health care systems 1
Cost Mitigation Strategies
- Laboratory payment assistance programs: Many commercial laboratories now offer patient assistance programs that result in little to no out-of-pocket expenses, particularly benefiting safety-net clinics 3
- Low-cost testing models: Studies using $50 testing fees showed similar participation rates to free testing (28.1% vs 35.7% patient participation) 4
Critical Caveats
The actual cost to patients is highly variable and often unpredictable due to:
- Inconsistent insurance coverage policies across states and plans 1
- Laboratory-specific pricing structures that differ between retail and discounted rates 1
- The distinction between what insurance pays versus patient out-of-pocket costs 1
- Non-coverage of genetic counseling services, which represents a major barrier separate from testing costs 3
Cost-effectiveness improves dramatically with increased relative testing: The efficiency of cascade screening increases as more relatives are identified and tested, making the per-case cost more favorable 1.