Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018
Proteogenomics refers to the integration of genomic, proteomic and transcriptomic information to provide a more complete picture of genome function. Proteogenomic testing can be differentiated from proteomic testing, in that proteomic testing can refer to the measurement of protein products alone, without integration of genomic and transcriptomic information. When protein products alone are tested, this is not considered proteogenomic testing. The current focus of proteogenomics is primarily on the diagnostic, prognostic, and predictive potential of proteogenomics in various cancers. One commercial test (GPS Cancer™ Test) is available. The test includes whole-genome sequencing (20,000 genes, 3 billion base pairs), whole transcriptome (RNA) sequencing, and quantitative proteomics by mass spectrometry. The test is intended to inform personalized treatment decisions for cancer, and treatment options are provided when available, although treatment recommendations are not. Treatment options may include FDA approved targeted drugs with potential for clinical benefit, active clinical trials of drugs with potential for clinical benefit, and/or available drugs to which cancer may be resistant.
Proteogenomic testing (e.g., GPS Cancer™ Test) for individuals with cancer is considered investigational.
Any specific products referenced in this policy are just examples and are intended for illustrative purposes only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available. These examples are contained in the parenthetical e.g. statement.
We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan, the express terms of the health plan will govern.
There is no published evidence on the clinical validity or clinical utility of proteogenomic testing (e.g., GPS Cancer™ Test), and only a few studies have provided information on validity for proteomic research in general. Further research is needed to adequately standardize and validate proteogenomic testing for clinical use.
BlueCross BlueShield Association. Evidence Positioning System. (7:2019). Proteogenomic testing for patients with cancer (2.04.140). Retrieved August 20, 2019 from https://www.evidencepositioningsystem.com/. (31 articles and/or guidelines reviewed)
Edwards, N. J., Oberti, M., Thangudu, R. R., Cai, S., McGarvey, P. B., Jacob, S., et al. (2015). The CPTAC data portal: A resource for cancer proteomics research. Journal of Proteome Research, 14 (6), 2707-2713. Abstract retrieved August 31, 2016 from PubMed database.
Gregorich, Z. R., & Ge, Y. (2014). Top-down proteomics in health and disease: challenges and opportunities. Proteomics, 14 (10), 1195-1210. (Level 4 evidence)
Jimenez, C., & Verheul, H. (2014). Mass spectrometry-based proteomics: from cancer biology to protein biomarkers, drug targets, and clinical applications. American Society of Clinical Oncology Educational Book, Volume 34, e504-e510. Retrieved August 27, 2018 from www.asco.com.
Latonen, L., Afyounian, E., Jylhä, A., Nättinen, J., Aapola, U., Annala, M., et al. (2018). Integrative proteomics in prostate cancer uncovers robustness against genomic and transcriptomic aberrations during disease progression. Nature Communications, 9, 1176. (Level 4 evidence)
Mertins, P., Mani, D., Ruggles, K., Gillette, M., Clauser, K., Wang, P., et al. (2016). Proteogenomics connects somatic mutations to signalling in breast cancer. Nature, 534 (7605), 55-62. (Level 4 evidence)
Sellappan, S., Blackler, A., Liao, W., O’Day, E., Xu, P., Thyparambil, S., et al. (2016). Therapeutically induced changes in HER2, HER3, and EGFR protein expression for treatment guidance. Journal of the National Comprehensive Cancer Network, 14 (5), 503-507. (Level 5 evidence)
Sheynkman, G., Shortreed, M., Cesnik, A., & Smith, L. (2016). Proteogenomics: integrating next-generation sequencing and mass spectrometry to characterize human proteomic variation. Annual Review of Analytical Chemistry, 9 (1), 521-545. (Level 4 evidence)
Zhang, H., Liu, T., Zhang, Z., Payne, S. H., Zhang, B., McDermott, J., et al. (2016). Integrated proteogenomic characterization of human high-grade serous ovarian cancer. Cell, 166 (3), 755-765. (Level 4 evidence)
ORIGINAL EFFECTIVE DATE: 1/14/2017
MOST RECENT REVIEW DATE: 9/26/2019
Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.
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