Out-of-pocket and private pay in clinical genetic testing: A scoping review

Clin Genet. 2021 Nov;100(5):504-521. doi: 10.1111/cge.14006. Epub 2021 Jun 21.


Full coverage of the cost of clinical genetic testing is not always available through public or private insurance programs, or a public healthcare system. Consequently, some patients may be faced with the decision of whether to finance testing out-of-pocket (OOP), meet OOP expenses required by their insurer, or not proceed with testing. A scoping review was conducted to identify literature associated with patient OOP and private pay in clinical genetic testing. Seven databases (EMBASE, MEDLINE, CINAHL, PsychINFO, PAIS, the Cochrane Database of Systematic Reviews, and the JBI Evidence-Based Practice database) were searched, resulting in 83 unique publications included in the review. The presented evidence includes a descriptive analysis, followed by a narrative account of the extracted data. Results were divided into four groups according to clinical indication: (1) hereditary breast and ovarian cancer, (2) other hereditary cancers, (3) prenatal testing, (4) other clinical indications. The majority of studies focused on hereditary cancer and prenatal genetic testing. Overall trends indicated that OOP costs have fallen and payer coverage has improved, but OOP expenses continue to present a barrier to patients who do not qualify for full coverage.

Keywords: genetic counseling; genomic testing; insurance; out-of-pocket; private pay.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Costs and Cost Analysis
  • Genetic Testing / economics*
  • Genetic Testing / methods
  • Genetic Testing / statistics & numerical data
  • Genetic Testing / trends
  • Health Care Costs / statistics & numerical data
  • Health Care Costs / trends
  • Health Expenditures / statistics & numerical data*
  • Health Services Accessibility / statistics & numerical data
  • High-Throughput Nucleotide Sequencing / economics
  • High-Throughput Nucleotide Sequencing / methods
  • High-Throughput Nucleotide Sequencing / statistics & numerical data
  • Humans
  • Mass Screening
  • Neoplasms / diagnosis
  • Neoplasms / epidemiology
  • Neoplasms / genetics
  • Prenatal Diagnosis / economics
  • Prenatal Diagnosis / methods
  • Prenatal Diagnosis / statistics & numerical data
  • United States / epidemiology

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