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Genet Med. 2020 Nov;22(11):1909. doi: 10.1038/s41436-020-0888-0. Epub 2020 Jun 30.

Economic value of exome sequencing for suspected monogenic disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Bart S Ferket, David L Veenstra

Affiliations

  1. Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA. [email protected].
  2. The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute, Department of Pharmacy, University of Washington, Seattle, WA, USA.

PMID: 32601385 DOI: 10.1038/s41436-020-0888-0

[No abstract available.]

References

  1. Schofield D, Rynehart L, Shresthra R, et al. Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes. Genet Med. 2019;21:2586–2593. - PubMed
  2. Stark Z, Schofield D, Alam K, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med. 2017;19:867–874. - PubMed
  3. Sanders GD, Neumann PJ, Basu A, et al. Recommendations for conduct, methodological practices, and reporting of cost-effectiveness analyses: second panel on cost-effectiveness in health and medicine. JAMA. 2016;316:1093–1103. - PubMed
  4. Lipstein EA, Brinkman WB, Fiks AG, et al. An emerging field of research: challenges in pediatric decision making. Med Decis Making. 2015;35:403–408. - PubMed
  5. Lingen M, Albers L, Borchers M, et al. Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life. Clin Genet. 2016;89:258–266. - PubMed

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