General precondition: Condition tested must have reduced life expectancy OR at least moderate to severe morbidity
Testing categories: One of the following categories must apply: A) testing affected (symptomatic) individual; B) testing tumor DNA of affected individual to benefit individual; C) testing asymptomatic individual to determine future risk; D) testing to benefit a family member
See specific subcriteria for each category.
A. Diagnostic testing for affected individual: An association of the marker with the disorder has been established; symptoms of the disease are present; a definitive diagnosis cannot be made by history, physical exam, pedigree analysis, and standard diagnostic studies/tests; AND the clinical utility of identifying the variant is established (e.g., leads to changes in management that improve outcomes, eliminates need for further invasive testing, or discontinues ineffective/unnecessary interventions).
Excludes reproductive testing.
A. Prognostic testing for affected individual: An association of the marker with the natural history of the disease has been established; and clinical utility is demonstrated by providing incremental prognostic information above standard testing, reclassification into clinically relevant prognostic categories, and resulting management changes that improve outcomes (e.g., gene expression assays such as Oncotype DX).
A. Therapeutic testing for affected individual: Genetic testing identifies variants that affect pharmacokinetics, drug efficacy, or adverse reactions (e.g., CYP450, G6PD); and clinical utility is established by leading to initiation or discontinuation of medications or clinically meaningful dosing changes that are likely to improve outcomes.
B. Tumor DNA testing: For diagnostic origin: testing establishes cell origin when uncertain after standard work-up. For prognostic use: association with natural history established and clinical utility demonstrated as above. For therapeutic use: association between variant and treatment response established; the patient is a candidate for targeted therapy and targeted therapy confers clinically meaningful outcome improvement.
C. Asymptomatic testing: An association of the marker with future disorder has been established; and clinical utility demonstrated by the existence of a presymptomatic phase in which interventions or surveillance are available and likely to improve outcomes (prevent or delay onset, detect earlier stage when treatment is more effective, or discontinue ineffective interventions).
Intended for individuals with relevant family history.
D. Testing to benefit a family member: An association of the genetic variant with clinical disease has been established; family members at risk are available; the tested individual has a clinical diagnosis or is the family member most likely to harbor the pathogenic variant; there is a presymptomatic phase with available interventions; and interventions are likely to improve outcomes (prevent/delay onset, detect earlier stage, or stop ineffective interventions).
Coverage eligibility depends on individual plan benefit language; these criteria represent clinical utility rather than medical necessity when there is no benefit to the tested individual.