Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests

被引:14
作者
Amendola, Laura M. [1 ]
Hart, M. Ragan [1 ]
Bennett, Robin L. [1 ]
Horike-Pyne, Martha [1 ]
Dorschner, Michael [2 ]
Shirts, Brian [3 ]
Jarvik, Gail P. [1 ,4 ]
机构
[1] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA
[2] Univ Washington, Dept Pathol, Seattle, WA 98195 USA
[3] Univ Washington, Dept Lab Med, Seattle, WA 98195 USA
[4] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
关键词
cancer genetics; clinical genetics; genetic counseling; genetics; germline genetic testing; health insurer coverage; hereditary cancer; insurer guidelines;
D O I
10.1002/jgc4.1155
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In this work, we explore the results of germline cancer genetic tests in individuals whose insurance would not cover this testing. We enrolled 31 patients with a personal history of cancer whose health insurer denied coverage for a clinical germline cancer panel genetic test recommended by a medical genetics provider into a study providing exome sequencing and return of cancer-related results. Five participants (16%) had a pathogenic variant identified related to increased cancer risk. Three participants (10%) had a variant of uncertain significance (VUS) in a gene related to their cancer history. These rates are not significantly different than the 12% rate of pathogenic or likely pathogenic (P/LP) variants and VUS in 1,462 patients approved by insurance to have a similar clinical germline cancer test (p =.59 for P/LP variants; p =.87 for VUS; Shirts et al., Genet Med, 18:974, 2016). Health insurance guidelines may not meaningfully differentiate between patients with cancer who are likely to benefit from germline cancer genetic testing and those who will not. Failure to identify pathogenic variants in this research cohort would have led to suboptimal care. Strategic evaluation of current germline cancer genetic testing coverage policies is needed to appropriately deliver precision medicine.
引用
收藏
页码:1208 / 1213
页数:6
相关论文
共 23 条
[1]  
Amendola L.M., Berg J.S., Horowitz C.R., Angelo F., Bensen J.T., Biesecker B.B., Jarvik G.P., The clinical sequencing evidence-generating research consortium: Integrating genomic sequencing in diverse and medically underserved populations, American Journal of Human Genetics, 103, 3, pp. 319-327, (2018)
[2]  
Amendola L.M., Dorschner M.O., Robertson P.D., Salama J.S., Hart R., Shirts B.H., Jarvik G.P., Actionable exomic incidental findings in 6503 participants: Challenges of variant classification, Genome Research, 25, 3, pp. 305-315, (2015)
[3]  
Berg J.S., Amendola L.M., Eng C., Van Allen E., Gray S.W., Wagle N., Jarvik G.P., Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the clinical sequencing exploratory research consortium, Genetics in Medicine, 15, 11, pp. 860-867, (2013)
[4]  
Desmond A., Kurian A.W., Gabree M., Mills M.A., Anderson M.J., Kobayashi Y., Ellisen L.W., Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment, JAMA Oncology, 1, 7, pp. 943-951, (2015)
[5]  
Dorschner M.O., Amendola L.M., Turner E.H., Robertson P.D., Shirts B.H., Gallego C.J., Jarvik G.P., Actionable, pathogenic incidental findings in 1,000 participants' exomes, American Journal of Human Genetics, 93, 4, pp. 631-640, (2013)
[6]  
Faulkner E., Annemans L., Garrison L., Helfand M., Holtorf A.-P., Hornberger J., Watkins J., Challenges in the development and reimbursement of personalized medicine-payer and manufacturer perspectives and implications for health economics and outcomes research: A report of the ISPOR personalized medicine special interest group, Value in Health, 15, 8, pp. 1162-1171, (2012)
[7]  
Gallego C.J., Bennette C.S., Heagerty P., Comstock B., Horike-Pyne M., Hisama F., Veenstra D.L., Comparative effectiveness of next generation genomic sequencing for disease diagnosis: Design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes, Contemporary Clinical Trials, 39, 1, pp. 1-8, (2014)
[8]  
Graf M.D., Needham D.F., Teed N., Brown T., Genetic testing insurance coverage trends: A review of publicly available policies from the largest US payers, Personalized Medicine, 10, 3, pp. 235-243, (2013)
[9]  
Jones N., Vogt S., Nielsen M., Christian D., Wark P.A., Eccles D., Sampson J.R., Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH, Gastroenterology, 137, 2, pp. 489-494, (2009)
[10]  
Kutscher E.J., Joshi S.M., Patel A.D., Hafeez B., Grinspan Z.M., Barriers to genetic testing for pediatric medicaid beneficiaries with epilepsy, Pediatric Neurology, 73, pp. 28-35, (2017)