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

Abstract

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.

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

“…However, in a care setting that eliminated OOP costs, this disparity disappeared 33 . Furthermore, as observed with BRCA testing, the rates of pathogenic/likely pathogenic variants returned by clinical germline cancer panels were similar between cohorts of individuals who had been approved and denied insurance coverage 9,34 …”

Genetic counselors’ perspectives on population‐based screening for BRCA‐related hereditary breast and ovarian cancer and Lynch syndrome

“…Lastly, a large majority of respondents felt the current US healthcare system is not positioned to support PBS, as reflected in quantitative trends and qualitative responses. While potential and/or perceived gaps persist in discrimination policy and insurance coverage (Amendola et al, 2019; Barlow‐Steward, Taylor, Treloar, Stranger, & Otlowski, 2009; Wauters & van Hoyweghen, 2016), the preference by genetic counselors that PBS should not be federally mandated may reflect a desire to preserve patient autonomy. However, carriers may still be missed if testing does not proceed due to choice, perceived discrimination, or coverage; in that manner, PBS could broaden existing healthcare disparities as previously observed in early studies of broad testing and management for BRCA1/BRCA2 (Cragun et al., 2017).…”

Challenges and Solutions for Integrating and Financing Personalized Medicine in Healthcare Systems: A Systematic Literature Review

“…Among the 26 papers mentioning economic relevance, more than 60% bring up the lack of studies assessing the applicability of PM. While some articles simply mention the issue (Degtiar 2017;Amendola et al 2019), others blame the paucity of evidence as being one of the hurdles the field must overcome to enable an optimal coverage (Deverka et al 2007;Sullivan et al 2011;Faulkner et al 2012;Fugel et al 2012;Hresko and Haga 2012;Cohen et al 2013;Terkola et al 2017). Without clear documentation on the cost-effectiveness of PM, payers do not have any incentive to reimburse it as it is not proven to make sense economically.…”

“…The question of whether the following testings should be reimbursed is another issue payers must think through when deciding for NGS coverage. Overall, payers encounter difficulties in predicting costs as the presence of a mutation in an individual makes members of the family eligible for cascade testing, for example in the case of breast cancer screening (Amendola et al 2019). This renders the final coverage decision difficult as mentioned by Trosman et al (2018) and Trosman et al (2015).…”

“…In the same vein, assessed coverage for multigene testing to confirm findings that the private payers not covering the tests regard them as experimental or investigational. According to Amendola et al (2019) and Trosman et al (2017), germline and hereditary cancer panels suffer from the same hardship in getting coverage. PM in general suffers from the same pragmatic issue, as seen in Meckley and Neumann (2010) and Hresko and Haga (2012).…”