Author ORCID Identifier

Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Chelsea Wagner, M.S., CGC

Committee Member

Paul Hillman, M.D., Ph.D

Committee Member

Leslie Dunnington, M.S., CGC

Committee Member

Carol Nowlen, M.S., CGC

Committee Member

Claire N. Singletary, M.S., CGC


Exome sequencing (ES) is often a standard step in the genetic testing process for patients with rare or complex disease. Despite clinical implementation of ES, insurance companies (payers) continue to deny this test. We investigated if the payer barrier is influenced by payer type, and if other demographic or clinical information correlated to ES approval and obtainment. To do this, a retrospective chart and clinical database review was completed on patients seen at a tertiary care center and community-based clinic. Patient demographics, clinical indications, and testing recommendations and outcomes were used to assess ES approval and obtainment. We found that patients with a public payer were 91% less likely to have ES approved, and 76% less likely to obtain ES compared to patients with a private payer. In our cohort, all minority patients were more likely to have a public payer compared to white patients. A consistent approach to ES recommendation was observed regardless of patient demographic or clinical information. In conclusion, having a public payer significantly impacts a patient’s ability to obtain ES and access the downstream benefits of testing. Additionally, the public payer barrier disproportionately effects minority patients as they are more likely to hold public payer options. Collectively, this information can support the development of payer policies and initiatives that promote equitable care of patients with rare diseases.


genetics, genetic counseling, medical genetics, insurance, insurance policies, disparities, public health



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