OBJECTIVES: Molecular and genetic testing can facilitate early disease detection, prevention, and precision treatment strategies. Recently, molecular/genetic testing has become more routine, mostly due to automation that provides accurate results at lower costs. We conducted a comprehensive assessment of tests prescribed by different specialties, along with costs to patients and payers, using a large claims database. The objective of this study was to assess current molecular/genetic testing utilization patterns and costs across top specialties in the US through claims analysis.

METHODS: Submitted molecular/genetic testing procedure claims were analyzed using the Decision Resources Group Real World Evidence Data Repository (Clarivate) between 1/2019 and 11/2022. Patients were included if they had selected laboratory testing procedure codes submitted by a prescriber. Based on the volume of claims, the top specialty prescribers were obstetrics/gynecology (OB/GYN), hematology & oncology, family medicine, internal medicine, pediatrics, and gastroenterology. Submitted claims were analyzed for approval/rejection rate, patients’ out-of-pocket (OOP) costs, and payers’ reimbursement amounts.

RESULTS: A total of 15,612,408 submitted claims were captured. OB/GYN experienced the highest claim volume (5.71 million). Approval rates for molecular/genetic testing claims were highest in gastroenterology (61%) and lowest in pediatrics (29%). The other specialties had varying approval rates (range, 31%-56%). The highest mean patient OOP amounts were for claims in OB/GYN ($19.71). Claims from pediatrics and hematology/oncology had the highest average submitted amounts ($1,108.70 and $1,062.20, respectively); meanwhile, family medicine and internal medicine had the highest payer reimbursed amounts ($466.63 and $422.37, respectively).

CONCLUSIONS: Across the top prescribing specialties in the US, the approval rates for molecular/genetic testing remained consistent despite the pandemic period. Overall, costs may be reasonable for many patients and payers. Improved understanding of the importance of molecular/genetic testing, patient’s knowledge of insurance, and clinical guideline recommendations may facilitate better approval rates for tests leading to earlier diagnosis.