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
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References
- Clinical application of whole-exome sequencing across clinical indications.Genet Med. 2016; 18: 696-704https://doi.org/10.1038/gim.2015.148
- Clinical utility of chromosomal microarray analysis.Pediatrics. 2012; 130: e1085-e1095https://doi.org/10.1542/peds.2012-0568
- Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.Gene. 2014; 535: 70-78https://doi.org/10.1016/j.gene.2013.10.020
- Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.Clin Genet. 2016; 89: 478-483https://doi.org/10.1111/cge.12575
- Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.Orphanet J Rare Dis. 2021; 16 (Published correction appears in Orphanet J Rare Dis. 2022;17(1):59. https://doi.org/10.1186/s13023-021-02025-7): 412
- Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.Pediatr Res. 2022; 92: 1364-1369https://doi.org/10.1038/s41390-022-01965-5
- Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Genet Med. 2020; 22: 986-1004https://doi.org/10.1038/s41436-020-0771-z
- Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study.Hum Mutat. 2022; 43: 568-581https://doi.org/10.1002/humu.24347
- Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.NPJ Genom Med. 2018; 3: 16https://doi.org/10.1038/s41525-018-0053-8
- Insurance coverage does not predict outcomes of genetic testing: the search for meaning in payer decisions for germline cancer tests.J Genet Couns. 2019; 28: 1208-1213https://doi.org/10.1002/jgc4.1155
- Cigna. Medical coverage policy. Genetic testing for hereditary cancer susceptibility syndromes. Cigna. 2022.(Accessed October 22, 2022.)
- Anthem BlueCross. Clinical UM guideline. BRCA genetic testing. Anthem.(Published April 13, 2022. Accessed November 11, 2022)
- Humana. Genetic testing medical coverage policy. OSF healthcare. 2017.(Accessed November 22, 2022.)
- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2021; 23: 2029-2037https://doi.org/10.1038/s41436-021-01242-6
- Cigna. Medical coverage policy. Whole exome and whole genome sequencing for non-cancer indications.Cigna. 2023; (Accessed December 13, 2022.)
- Anthem BlueCross. Medical policy. Whole genome sequencing, whole exome sequencing, gene panels, and molecular profiling. Anthem.(Published December 28, 2022. Accessed January 6, 2023.)
- Humana. Whole genome/exome sequencing and genome-wide association studies. 2022.(Accessed December 13, 2022.)
- Clinical integration of next generation sequencing: coverage and reimbursement challenges.J Law Med Ethics. 2014; 42: 22-41https://doi.org/10.1111/jlme.12160
- A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.Genet Med. 2017; 19: 1055-1063https://doi.org/10.1038/gim.2017.1
- Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.Genet Med. 2018; 20: 1122-1130https://doi.org/10.1038/gim.2017.247
- Blueprint Genetics. Pricing. Blueprint Genetics. 2022.(Accessed September 8, 2022.)
- How health insurance design affects access to care and costs, by income, in eleven countries.Health Aff (Millwood). 2010; 29: 2323-2334https://doi.org/10.1377/hlthaff.2010.0862
- Prevalence and characteristics of surprise out-of-network bills from professionals in ambulatory surgery centers.Health Aff (Millwood). 2020; 39: 783-790https://doi.org/10.1377/hlthaff.2019.01138
- Health care spending in the United States and other high-income countries.JAMA. 2018; 319 (Published correction appears in JAMA. 2018;319(17):1824. https://doi.org/10.1001/jama.2018.1150): 1024-1039
- Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics.Genet Med. 2021; 23: 950-955https://doi.org/10.1038/s41436-020-01081-x
- Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns. 2019; 28: 1107-1118https://doi.org/10.1002/jgc4.1161
- Clinical exome sequencing for genetic identification of rare Mendelian disorders.JAMA. 2014; 312: 1880-1887https://doi.org/10.1001/jama.2014.14604
- Genomic answers for children: dynamic analyses of >1000 pediatric rare disease genomes.Genet Med. 2022; 24: 1336-1348https://doi.org/10.1016/j.gim.2022.02.007
- PhenoTips: patient phenotyping software for clinical and research use.Hum Mutat. 2013; 34: 1057-1065https://doi.org/10.1002/humu.22347
- “Is it going to hurt?”: the impact of the diagnostic odyssey on children and their families.J Genet Couns. 2015; 24: 325-335https://doi.org/10.1007/s10897-014-9773-9
- Hope versus reality: parent expectations of genomic testing.Patient Educ Couns. 2021; 104: 2073-2079https://doi.org/10.1016/j.pec.2021.01.030
- Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS).Genet Med. 2020; 22: 283-291https://doi.org/10.1038/s41436-019-0650-7
- Insurance coverage for genomic tests.Science. 2018; 360: 278-279https://doi.org/10.1126/science.aas9268
- Genetic test availability and spending: where are we now? Where are we going?.Health Aff (Millwood). 2018; 37: 710-716https://doi.org/10.1377/hlthaff.2017.1427
- Influence of payer coverage and out-of-pocket costs on ordering of NGS panel tests for hereditary cancer in diverse settings.J Genet Couns. 2022; 31: 130-139https://doi.org/10.1002/jgc4.1459
Article info
Publication history
Published online: January 27, 2023
Accepted:
January 12,
2023
Received in revised form:
January 12,
2023
Received:
September 20,
2022
Identification
Copyright
© 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
