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Cost or price of sequencing? Implications for economic evaluations in genomic medicine

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  1. 1.

    Yeung, A. et al. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients. Genet. Med. 22, 1986–1993 (2020).

    Article  Google Scholar 

  2. 2.

    Li, C. et al. Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies. Genet. Med. (2020).

  3. 3.

    Assasi, N., Schwartz, L., Tarride, J. E., Goeree, R. & Xie, F. Economic evaluations conducted for assessment of genetic testing technologies: a systematic review. Genet. Test. Mol. Biomarkers. 16, 1322–1335 (2012).

    Article  Google Scholar 

  4. 4.

    Schwarze, K., Buchanan, J., Taylor, J. C. & Wordsworth, S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet. Med. 20, 1122–1130 (2018).

    Article  Google Scholar 

  5. 5.

    Alam, K. & Schofield, D. Economic evaluation of genomic sequencing in the paediatric population: a critical review. Eur. J. Hum. Genet. 26, 1241–1247 (2018).

    Article  Google Scholar 

  6. 6.

    Coyle, D. et al. HTA methodology and value frameworks for evaluation and policy making for cell and gene therapies. Eur. J. Health Econ. 21, 1421–1437 (2020).

    Article  Google Scholar 

  7. 7.

    Willke, R. J., Neumann, P. J., Garrison, L. P. Jr. & Ramsey, S. D. Review of recent US value frameworks-a health economics approach: an ISPOR special task force report [6]. Value Health. 21, 155–160 (2018).

    Article  Google Scholar 

  8. 8.

    Garrison, L. P. Jr., Pauly, M. V., Willke, R. J. & Neumann, P. J. An overview of value, perspective, and decision context-a health economics approach: an ISPOR special task force report [2]. Value Health. 21, 124–130 (2018).

    Article  Google Scholar 

  9. 9.

    Husereau, D. et al. Consolidated Health Economic Evaluation Reporting Standards (CHEERS) statement. Pharmacoeconomics. 31, 361–367 (2013).

    Article  Google Scholar 

  10. 10.

    Arora, V., Moriates, C. & Shah, N. The challenge of understanding health care costs and charges. AMA J. Ethics. 17, 1046–1052 (2015).

    Article  Google Scholar 

  11. 11.

    Barnett, P. G. An improved set of standards for finding cost for cost-effectiveness analysis. Med. Care. 47 7Suppl 1, S82–S88 (2009).

    Article  Google Scholar 

  12. 12.

    Jacobs, J. C. & Barnett, P. G. Emergent challenges in determining costs for economic evaluations. Pharmacoeconomics. 35, 129–139 (2017).

    Article  Google Scholar 

  13. 13.

    Xu, X., Lazar, C. M. & Ruger, J. P. Microcosting in health and medicine: a critical appraisal. Health Econ. Rev. 11, 1 (2021).

    Article  Google Scholar 

  14. 14.

    Tsiplova, K. et al. A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder. Genet. Med. 19, 1268–1275 (2017).

    Article  Google Scholar 

  15. 15.

    van Nimwegen, K. J. et al. Is the $1000 genome as near as we think? A cost analysis of next-generation sequencing. Clin Chem. 62, 1458–1464 (2016).

    Article  Google Scholar 

  16. 16.

    Jegathisawaran, J., Tsiplova, K., Hayeems, R. & Ungar, W. J. Determining accurate costs for genomic sequencing technologies-a necessary prerequisite. J. Community Genet. 11, 235–238 (2020).

    Article  Google Scholar 

  17. 17.

    Tan, T. Y. et al. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. Eur. J. Hum. Genet. 27, 1791–1799 (2019).

    Article  Google Scholar 

  18. 18.

    Schwarze, K. et al. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet. Med. 22, 85–94 (2020).

    CAS  Article  Google Scholar 

  19. 19.

    Sabatini, L. M. et al. Genomic sequencing procedure microcosting analysis and health economic cost-impact analysis: a report of the Association for Molecular Pathology. J. Mol. Diagn. 18, 319–328 (2016).

    Article  Google Scholar 

  20. 20.

    Farnaes, L. et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med. 3, 10 (2018).

    Article  Google Scholar 

  21. 21.

    Dragojlovic, N. et al. The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study. Genet. Med. 20, 1013–1021 (2018).

    Article  Google Scholar 

  22. 22.

    Frakt, A. B. & Chernew, M. E. The importance of relative prices in health care spending. JAMA. 319, 441–442 (2018).

    Article  Google Scholar 

  23. 23.

    Reinhardt, U. E. Priced Out: The Economic and Ethical Costs of American Health Care. (Princeton University Press, Princeton, 2019).

  24. 24.

    Bai, G. & Anderson, G. F. Extreme markup: the fifty US hospitals with the highest charge-to-cost ratios. Health Aff. (Millwood). 34, 922–928 (2015).

    Article  Google Scholar 

  25. 25.

    Fishman, P. A. & Hornbrook, M. C. Assigning resources to health care use for health services research: options and consequences. Med. Care. 47 7Suppl 1., S70–S75 (2009).

    Article  Google Scholar 

  26. 26.

    Kim, D. D. et al. Perspective and costing in cost-effectiveness analysis, 1974-2018. Pharmacoeconomics. 38, 1135–1145 (2020).

    Article  Google Scholar 

  27. 27.

    Tan, T. Y. et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr. 171, 855–862 (2017).

    Article  Google Scholar 

  28. 28.

    Basu, A. in Cost-Effectiveness in Health and Medicine. (eds Neumann, P. J. et al.) Estimating costs and valuations of non-health benefits in cost-effectiveness analysis (Oxford University Press, Oxford, 2017).

  29. 29.

    Biener, A. I. & Selden, T. M. Public and private payments for physician office visits. Health Aff. (Millwood). 36, 2160–2164 (2017).

    Article  Google Scholar 

  30. 30.

    Allen, H., Gordon, S. H., Lee, D., Bhanja, A. & Sommers, B. D. Comparison of utilization, costs, and quality of Medicaid vs subsidized private health insurance for low-income adults. JAMA Netw. Open. 4, e2032669 (2021).

    Article  Google Scholar 

  31. 31.

    Sboner, A., Mu, X. J., Greenbaum, D., Auerbach, R. K. & Gerstein, M. B. The real cost of sequencing: higher than you think! Genome Biol. 12, 125 (2011).

    Article  Google Scholar 

  32. 32.

    Wright, C. F. et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 385, 1305–1314 (2015).

    Article  Google Scholar 

  33. 33.

    Lee, H. et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 312, 1880–1887 (2014).

    Article  Google Scholar 

  34. 34.

    Grosse, S. D. & Farnaes, L. Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value? Genet. Med. 21, 269–271 (2019).

    Article  Google Scholar 

  35. 35.

    Brunelli, L. et al. Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Mol. Genet. Genom. Med. 7, e00796 (2019).

    Google Scholar 

  36. 36.

    Wang, H. et al. Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants. NPJ Genom. Med. 5, 1–6 (2020).

    CAS  Article  Google Scholar 

  37. 37.

    Schofield, D., Rynehart, L., Shresthra, R., White, S. M. & Stark, Z. Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes. Genet. Med. 21, 2586–2593 (2019).

    Article  Google Scholar 

  38. 38.

    National Human Genome Research Institute. The cost of sequencing a human genome. (2021).

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We thank Louis Garrison, Donald Husereau, and an anonymous reviewer for helpful comments. The findings and conclusions in this paper are those of the authors and do not necessarily represent the official positions of the Centers for Disease Control and Prevention or Intermountain Healthcare.

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Correspondence to Scott D. Grosse.

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Grosse, S.D., Gudgeon, J.M. Cost or price of sequencing? Implications for economic evaluations in genomic medicine. Genet Med (2021).

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