Purpose There is uncertainty about when personalized medicine tests provide economic value. We assessed evidence on the economic value of personalized medicine tests and gaps in the evidence base. Methods We created a unique evidence base by linking data on published cost–utility analyses from the Tufts Cost-Effectiveness Analysis Registry with data measuring test characteristics and reflecting where value analyses may be most needed: (i) tests currently available or in advanced development, (ii) tests for drugs with Food and Drug Administration labels with genetic information, (iii) tests with demonstrated or likely clinical utility, (iv) tests for conditions with high mortality, and (v) tests for conditions with high expenditures. Results We identified 59 cost–utility analyses studies that examined personalized medicine tests (1998–2011). A majority (72%) of the cost/quality-adjusted life year ratios indicate that testing provides better health although at higher cost, with almost half of the ratios falling below $50,000 per quality-adjusted life year gained. One-fifth of the results indicate that tests may save money. Conclusion Many personalized medicine tests have been found to be relatively cost-effective, although fewer have been found to be cost saving, and many available or emerging medicine tests have not been evaluated. More evidence on value will be needed to inform decision making and assessment of genomic priorities.

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Purpose: Exome sequencing (ES) has the potential to improve management of congenital anomalies and neurodevelopmental disorders in fetuses, infants, and children. US payers are key stakeholders in patient access to ES. We examined how payers view insurance coverage and clinical utility of pediatric and prenatal ES. Methods: We employed the framework approach of qualitative research to conduct this study. The study cohort represented 14 payers collectively covering 170,000,000 enrollees. Results: Seventy-one percent of payers covered pediatric ES despite perceived insufficient evidence because they saw merit in available interventions or in ending the diagnostic odyssey. None covered prenatal ES, because they saw no merit. For pediatric ES, 50% agreed with expanded aspects of clinical utility (e.g., information utility), and 21% considered them sufficient for coverage. For prenatal ES, payers saw little utility until in utero interventions become available. Conclusion: The perceived merit of ES is becoming a factor in payers' coverage for serious diseases with available interventions, even when evidence is perceived insufficient. Payers' views on ES's clinical utility are expanding to include informational utility, aligning with the views of patients and other stakeholders. Our findings inform clinical research, patient advocacy, and policymaking, allowing them to be more relevant to payers.

Purpose: Personalized medicine-the use of genomics and molecular diagnostics to direct care decisions-may improve outcomes by more accurately individualizing treatment to patients. Using qualitative research, we explored care delivery barriers to the use of personalized medicine for patients with breast cancer using examples of BRCA and gene expression profile testing. Methods:We conducted 51 interviews with multidisciplinary stakeholders in breast cancer care: clinicians (n ϭ 25) from three academic and nine nonacademic organizations, executives (n ϭ 20) from four major private insurers, and patient advocates (n ϭ 6).Results: Barriers were common to the BRCA and gene expression profile tests and were classified under two categories: poor coordination of tests relative to treatment decisions and reimbursement-related disincentives. Perception of specific barriers varied across groups. Difficulty coordinating diagnostics relative to decisions was the most frequent concern by clinicians (60%), but only 35% of payers and 17% of advocates noted this barrier. For 60% of payers, drug-and procedure-based reimbursement was a significant barrier, but only 40% of clinicians and none of the advocates expressed the same concern. The opinion that patient out-of-pocket expenses are a barrier varied significantly between advocates and clinicians (83% v 20%, P Ͻ .007), and advocates and payers (83% v 15%, P Ͻ .004). Barriers were reported to result in postponement or avoidance of tests, delayed treatment decisions, and proceeding with decisions before test results. Conclusion:Poorly coordinated diagnostic testing and the current oncology reimbursement model are barriers to the use of genomic and molecular diagnostic tests in cancer care.