Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data

Introduction: Healthcare payers in the USA increasingly cover genetic testing, including exome sequencing (ES), for pediatric indications. Analysis of claims data enables understanding of utilization and costs in real-world settings. The objective of this study was to describe genetic test utilization, diagnostic outcomes, and costs for children who received ES as well as for those who received less comprehensive forms of genetic testing, along with their families.

Patients and methods: We analyzed linked family claims data for commercially insured members of a large regional health plan. The sample included children younger than 18 years of age who had at least 1 year of continuous plan enrollment and at least one claim for genetic testing from 2016 to 2022, as well as their family members. We compared outcomes for children who ever had a claim for ES (ES cohort) with those for children who had claims for only less comprehensive genetic testing (other genetic testing (OGT) cohort). We evaluated the frequency of ICD-10 codes indicating genetic diagnoses, health care utilization, and out-of-pocket costs in relation to the timing of the index genetic test using t-tests and inverse-probability-of-treatment weighted regression models to control for observable clinical and demographic characteristics associated with type of testing received.

Results: Our sample included 182 children (mean comorbidity index 4.78) in the ES cohort and 1789 children in the OGT cohort (3.63; p < 0.001). ES led to an average of 1.44 (95% confidence interval [CI] 0.67-2.20) more new genetic diagnostic codes after testing than OGT. A larger proportion of the proband's family members had subsequent genetic testing in the ES cohort (mean 33.3%) than in the OGT cohort (0.5%; p < 0.001), but no differences in the number of new genetic diagnoses in family members were observed. Out-of-pocket costs for genetic testing did not differ between the two cohorts stratified by clinical severity.

Conclusions: In our sample of commercially insured pediatric patients, claims for ES were less frequent and occurred among children with more clinical complexity than those for less comprehensive genetic testing. Children in the ES cohort had a higher number of new genetic diagnoses post-testing than those in the OGT cohort with no significant differences in out-of-pocket cost of testing to families. Our findings suggest that ES is being reimbursed for children who may be difficult to diagnose.