Economics of Genomic Testing for Women With Breast Cancer | Page 4

Published Online: December 23, 2013
Robert D. Lieberthal, PhD
Genomic tests for breast cancer are relatively new. In the United States, regulation is the responsibility of the US Food and Drug  Administration (FDA), which regulates genomic tests as devices. The FDA has indicated a strong preference for co-approval of  genomic tests and the treatments that they test for.36 It has issued significant guidance on genomic technologies that are subject  to FDA approval. However, “the overwhelming majority of genetic tests are not currently subject to FDA scrutiny.”37 The international regulatory perspective is generally more focused on a combination of effectiveness and cost-effectiveness compared with the US  erspective, which is focused solely on effectiveness. For that reason, additional cost-effectiveness studies may help with the  diffusion of genomic testing outside the United States.


Reimbursement for genomic testing depends upon the type of insurance, if any, that the patient has. Oncotype DX is widely utilized  and reimbursed, and is often covered by Medicare. Trosman and colleagues38 studied the approaches used by private payers to  develop their coverage strategy for Oncotype DX and found that all payers prioritized clinical evidence as the most important  decision factor, also taking into account medical society recommendations. The majority of payers were not concerned that  Oncotype DX has not received FDA approval.

Future Study Designs

The economic analysis studies reviewed in this article make a case for the cost-effectiveness of genomic testing for breast cancer  treatment decision making. While the modeling studies we reviewed do support the value proposition for genomic testing for breast  ancer, more must be done to show the projected benefits that could be realized in realworld settings. Trials centered around the  ctual use of such tests in the breast cancer population are necessary to bolster the evidence base.33

Policy Implications

The cooperation of multiple stakeholders will be essential if genomic medicine is to reach its full potential. The barrier to progress for  enomic medicine is the lack of empirical evidence for the clinical utility and value of genomic testing.29,33 The literature appears  to support the need for additional studies to evaluate the value of genomic testing for breast cancer.38 The lack of  ranslational research is mentioned repeatedly as an obstacle to establishing the clinical utility and outcomes evidence base needed  to inform regulatory, coverage, and reimbursement decisions.30 Clear standards and processes for oversight and regulation of genomic testing are also lacking.39-41 Currently, policy makers must evaluate these promising new technologies without full information.  dditional economic evaluations can serve to reduce the regulatory uncertainty regarding a disease that affects many women, their families, and their communities.

Take-Away Points

Many studies document the scientific basis for genomic testing for breast cancer, but few tools allow payers to assess the value of these genomic tests.
  • Economic research on genomic testing for breast cancer has not involved randomized controlled trials or other direct trial data.

  • Research on the economics of genomic testing will consist primarily of modeling studies for the foreseeable future.

  • Payers should use economic models as the best available evidence for which genomic tests should be reimbursed.

  • Payers should demand more funding for high-quality prospective trials of genomic tests with an economic evaluation.
Author Affiliation: Jefferson School of Population Health, Thomas Jefferson University, Philadelphia, PA.

Funding Source: This article was written as part of an education grant funded by Genomic Health.

Author Disclosures: The author report no relationship or financial interest with any entity that would pose a conflict of interest with the subject matter of this article.

Authorship Information: Analysis and interpretation of data; critical revision of the manuscript for important intellectual content; and supervision.

Address correspondence to: Robert D. Lieberthal, PhD, Assistant Professor,  Jefferson School of Population Health, Thomas Jefferson University, 901 Walnut St, 10th Floor, Philadelphia, PA 19107. E-mail: robert.lieberthal@jefferson.edu.
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Issue: December 2013
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