Author ORCID Identifier
https://orcid.org/0000-0001-5441-3677
Date of Graduation
5-2021
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
Abstract
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.
Keywords
genetics, genetic counseling, medical genetics, insurance, insurance policies, disparities, public health