Grant Summary: Genomic sequencing to aid diagnosis in pediatric and prenatal practice

TRANSPERS participated in a sub-aim of the overall grant. Our objective was to examine “coverage, price, and reimbursement” (“CPR”) in a variety of neurocognitive disorders in a pediatric cohort (NDPC) and structural birth defects in a prenatal cohort (SBDPC) for multigene tests (panels and sequencing tests): what tests are covered by payers, why are tests covered or not covered, and how CPR influences testing decisions and practices in clinic settings.

The key takeaways from our research were:

  • We found an increase in private payer coverage of exome sequencing (ES) between 2015 (no coverage) and 2017 with slightly more than half covering ES. Coverage policies varied with types and amount of evidence evaluated.
  • In an interview study with private payers, 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.
  • 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.

This grant produced 19 papers, including papers in Health Affairs, JAMA, Value in Health and Genetics in Medicine.


  1. Ginsburg, G.S. and K.A. Phillips, Precision Medicine: From Science To Value. Health Aff (Millwood), 2018. 37(5): p. 694-701.
  2. Phillips, K.A., Evolving Payer Coverage Policies on Genomic Sequencing Tests: Beginning of the End or End of the Beginning? Jama, 2018. 319(23): p. 2379-2380.
  3. Phillips, K.A., et al., Genetic Test Availability And Spending: Where Are We Now? Where Are We Going? Health Aff (Millwood), 2018. 37(5): p. 710-716.
  4. Phillips, K.A., et al., Insurance coverage for genomic tests. Science, 2018. 360(6386): p. 278-279.
  5. Phillips, K.A., et al., New Medicare Coverage Policy for Next-Generation Tumor Sequencing: A Key Shift in Coverage Criteria With Broad Implications Beyond Medicare. JCO Precis Oncol, 2018. 2.
  6. Trosman, J.R., et al., From the Past to the Present: Insurer Coverage Frameworks for Next-Generation Tumor Sequencing. Value Health, 2018. 21(9): p. 1062-1068.
  7. Douglas, M.P., et al., Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited. Genet Med, 2019. 21(1): p. 152-160.
  8. Phillips, K.A., D.A. Marshall, and A.W. Kurian, Can precision medicine help achieve the goal of reducing care when the risks exceed the benefits? Per Med, 2019. 16(5): p. 365-367.
  9. Phillips, K.A., J.R. Trosman, and M.P. Douglas, Emergence of Hybrid Models of Genetic Testing Beyond Direct-to-Consumer or Traditional Labs. Jama, 2019. 321(24): p. 2403-2404.
  10. Deverka, P.A., M.P. Douglas, and K.A. Phillips, Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing-Based Tests: Challenges, Opportunities, and Potential Solutions. Value Health, 2020. 23(5): p. 540-550.
  11. Douglas, M.P., S.W. Gray, and K.A. Phillips, Private Payer and Medicare Coverage for Circulating Tumor DNA Testing: A Historical Analysis of Coverage Policies From 2015 to 2019. J Natl Compr Canc Netw, 2020. 18(7): p. 866-872.
  12. Phillips, K.A., M.P. Douglas, and D.A. Marshall, Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation. Jama, 2020. 324(20): p. 2029-2030.
  13. Trosman, J.R., et al., Insights From a Temporal Assessment of Increases in US Private Payer Coverage of Tumor Sequencing From 2015 to 2019. Value Health, 2020. 23(5): p. 551-558.
  14. Trosman, J.R., et al., Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS). Genet Med, 2020. 22(2): p. 283-291.
  15. Arias, J.J., et al., Private payer coverage policies for ApoE-e4 genetic testing. Genet Med, 2021. 23(4): p. 614-620.
  16. Phillips, K.A., et al., Availability and funding of clinical genomic sequencing globally. BMJ Glob Health, 2021. 6(2).
  17. Scheuner, M.T., et al., Laboratory business models and practices: implications for availability and access to germline genetic testing. Genet Med, 2021. 23(9): p. 1681-1688.
  18. Douglas, M.P., et al., Hereditary cancer panel testing challenges and solutions for the Latinx community: costs, access, and variants. J Community Genet, 2022. 13(1): p. 75-80.
  19. Lin, G.A., et al., Influence of payer coverage and out-of-pocket costs on ordering of NGS panel tests for hereditary cancer in diverse settings. J Genet Couns, 2022. 31(1): p. 130-139.