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. 2023 May;25(5):100020.
doi: 10.1016/j.gim.2023.100020. Epub 2023 Jan 28.

Insurance denials and diagnostic rates in a pediatric genomic research cohort

Tricia N Zion  1 , Courtney D Berrios  2 , Ana S A Cohen  2 , Lauren Bartik  3 , Laura A Cross  4 , Kendra L Engleman  4 , Emily A Fleming  4 , Randi N Gadea  4 , Susan S Hughes  4 , Janda L Jenkins  5 , Jennifer Kussmann  4 , Caitlin Lawson  4 , Caitlin Schwager  4 , Meghan E Strenk  4 , Holly Welsh  4 , Eric T Rush  6 , Shivarajan M Amudhavalli  4 , Bonnie R Sullivan  4 , Dihong Zhou  4 , Jennifer L Gannon  4 , Bryce A Heese  4 , Riley Moore  2 , Emelia Boillat  2 , Rebecca L Biswell  2 , Daniel A Louiselle  2 , Laura M B Puckett  2 , Shanna Beyer  2 , Shelby H Neal  2 , Victoria Sierant  2 , Macy McBeth  2 , Bradley Belden  2 , Adam M Walter  2 , Margaret Gibson  2 , Warren A Cheung  2 , Jeffrey J Johnston  2 , Isabelle Thiffault  2 , Emily G Farrow  2 , Elin Grundberg  2 , Tomi Pastinen  2
Affiliations

Insurance denials and diagnostic rates in a pediatric genomic research cohort

Tricia N Zion et al. Genet Med. 2023 May.

Abstract

Purpose: This study aimed to assess the amount and types of clinical genetic testing denied by insurance and the rate of diagnostic and candidate genetic findings identified through research in patients who faced insurance denials.

Methods: Analysis consisted of review of insurance denials in 801 patients enrolled in a pediatric genomic research repository with either no previous genetic testing or previous negative genetic testing result identified through cross-referencing with insurance prior-authorizations in patient medical records. Patients and denials were also categorized by type of insurance coverage. Diagnostic findings and candidate genetic findings in these groups were determined through review of our internal variant database and patient charts.

Results: Of the 801 patients analyzed, 147 had insurance prior-authorization denials on record (18.3%). Exome sequencing and microarray were the most frequently denied genetic tests. Private insurance was significantly more likely to deny testing than public insurance (odds ratio = 2.03 [95% CI = 1.38-2.99] P = .0003). Of the 147 patients with insurance denials, 53.7% had at least 1 diagnostic or candidate finding and 10.9% specifically had a clinically diagnostic finding. Fifty percent of patients with clinically diagnostic results had immediate medical management changes (5.4% of all patients experiencing denials).

Conclusion: Many patients face a major barrier to genetic testing in the form of lack of insurance coverage. A number of these patients have clinically diagnostic findings with medical management implications that would not have been identified without access to research testing. These findings support re-evaluation of insurance carriers' coverage policies.

Keywords: Access to testing; Denials; Genomic medicine; Insurance; Research testing.

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Conflict of interest statement

Conflict of Interest The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1. Percent of patients with insurance denials by payer type.
Breakdown by payer type showed that of 374 patients in our cohort who had any testing ordered, 25.7% (N = 96) of patients with private insurance, 14.6% (N = 47) of patients with public insurance, and 15.8% (N = 3) of patients with military insurance experienced denials.
Figure 2
Figure 2. Breakdown of denials across testing types.
A. Denials by testing type. Exome sequencing (ES) and microarray together made up the majority of denied tests. B. Proportion of denials by testing type. The test with the highest denial rate to amount of tests ordered was known familial variant analysis with 5 tests denied of 27 cases ordered (18.5%). ES was the next highest with 76 tests denied out of 457 ordered (16.6%)
Figure 3
Figure 3
Genetic findings in cases with previous insurance denials.
See this image and copyright information in PMC

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