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MEDICAL PRE-AUTHORIZATION CRITERIA Medicare PROCEDURE/ EQUIPMENT Genetic Testing, Colorectal Cancer CPT/HCPCS CODES 81201, 81202, 81203, 81288, 81292, 81293, 81294, 81295, 81296, 81297, 81298, 81299, 81300, 81301, 81317, 81318, 81319, 81401, 81403, 81406, 81435, 81436 CRITERIA Including Micro-Satellite Instability (MSI), Lynch Syndrome/Hereditary Non-Polyposis Colorectal Cancer (MLH1, MSH2, MSH6, PMS2, EPCAM), Familial Adenomatous Polyposis Coli and Attenuated Familial Adenomatous Polyposis Coli (APC Genetic Testing), MUTYH-Associated Polyposis (MAP)/MYH Associated Polyposis LYNCH SYNDROME (LS)/HEREDITARY NON-POLYPOSIS COLORECTAL CANCER (HNPCC), MUST MEET ALL OF THE FOLLOWING: 1. The results of the genetic testing will directly impact surveillance or treatment of the member. 2. One of the following criteria is met: a. Amsterdam II Criteria (must meet 1-5): 1) An LS/HNPCC-associated cancer (colorectal, endometrium, small bowel, ureter, renal pelvis) is present in at least three related members in the family; and 2) One family member must be a first-degree relative1 of the other two; and 3) The LS/HNPCC-associated cancers are present in 2 successive generations of the family; and 4) At least one family member has been diagnosed with cancer associated with LS/HNPCC < 50 years of age; and 5) Familial adenomatous polyposis (FAP see below) has been ruled out. b. Revised Bethesda Criteria, for testing colorectal tumors for microsatellite instability (MSI) (Must meet one of the following): 1) Colorectal cancer diagnosed in an member < 50 years of age; 2) Presence of synchronous or metachronous LS/HNPCC-associated tumors, regardless of age; 2 3) Colorectal cancer with the microsatellite instability-high histology diagnosed in an member < 60 years of age; 4) Colorectal cancer diagnosed in an member with one or more first-degree relative(s) with an LS/HNPCC-related cancer and with one of the cancers being diagnosed < 50 years of age; 5) Colorectal cancer diagnosed in an member with two or more first- or second-degree relatives with LS/HNPCC-related cancers, regardless of age.1 c. The member has endometrial cancer diagnosed < 50 years of age. d. Lynch Syndrome has been definitively diagnosed in a first- or second-degree relative. e. The PREMM[1,2,6] mutation prediction model yields a result of ≥ 5% http://premm.dfci.harvard.edu/ 1 First-degree relatives include parents, siblings or children; Second-degree relatives include grandparents, grandchildren, aunts, uncles, nephews, nieces or half-siblings. 2 Instability-high histology includes the presence of tumor infiltrating lymphocytes, Crohn’s-like lymphocytic reaction, mucinous/signet-ring differentiation, or medullary growth pattern. MEDICAL PRE-AUTHORIZATION CRITERIA Medicare CRITERIA (continued) FAMILIAL ADENOMATOUS POLYPOSIS COLI (FAP) OR ATTENUATED FAP MUST MEET ALL OF THE FOLLOWING: 1. The results of the genetic testing will directly impact surveillance or treatment of the member. 2. One of the following criteria is met: a. The member has more than 10 colorectal adenomatous polyps; b. The member has a first-degree relative(s) with a known APC mutation; c. The member has a personal history of a desmoid tumor. NOTE: APC negative members should be tested for MUTYH. Members with Serrated Polyposis Syndrome with associated adenomas should also be tested for MUTYH. DEFINITIONS Lynch Syndrome (LS)/Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Accounts for 35% of all colorectal cancer. LS/HNPCC is an autosomal dominant condition caused by one of several DNA mismatch repair genes (MSH2 and MLH1 predominantly; MSH6 to a lesser extent). Unlike FAP, members with LS/HNPCC do not have an unusual number of colonic polyps. In addition to colorectal cancer (predominantly right-sided), members with LS/HNPCC have an increased risk of extracolonic cancers, most commonly endometrial. Other associated cancers include ovarian, stomach, small bowel, pancreatic, hepatobiliary, brain (usually glioblastoma as seen in Turcot Syndrome), ureteral and renal pelvis. In addition, sebaceous gland adenomas and keratocantomas are seen in Muir-Torre Syndrome (a rare subtype of LS/HNPCC). Although the Amsterdam and Bethesda criteria are sometimes used interchangeably, they were created to serve different purposes. The Amsterdam criteria are used to identify members who meet the definition of LS/HNPCC. The Bethesda criteria are intended to help identify tumors that should be tested for microsatellite instability, thereby identifying members at risk for LS/HNPCC. If microsatellite instability is high, then more specific gene testing is appropriate (MLH1, MSH2, MSH6, PMS2). Familial Adenomatous Polyposis (FAP)—Also called Gardner Syndrome, Familial Polyposis Coli or Adenomatous Polyposis Coli (APC). FAP is an autosomal dominant condition caused by mutations of the APC gene. Members with FAP have multiple (>100) adenomatous polyps in the colon and rectum developing after the first decade of life. Members with FAP may also have polyps in the upper GI, dental abnormalities (especially supernumerary teeth and/or ondontomas) and extraintestinal manifestations such as osteomas and epidermoid cysts and fibromas, desmoid tumors, congenital hypertrophy of retinal pigment epithelium (CHRPE) and other malignant changes such as papillary thyroid cancer, gastric and pancreatic cancers, hepatoblastoma and medulloblastoma. Attenuated FAP—A heterogenous clinical entity. Members have fewer than 100 adenomatous polyps in the colorectum. The incidence is unknown but may be similar to FAP. Testing of the APC gene also plays a role in the evaluation of members with suspected attenuated FAP. MUTYH-Associated Polyposis (MAP)/MYH-Associated Polyposis- Members have multiple colorectal adenomas with or without cancer. MAP is an autosomal recessive condition resulting from defects in the Mut Y homolog (MUTYH) genes. This condition may account for a portion of members who present with multiple adenomas like FAP but are negative for APC gene mutations. Members meeting criteria for FAP or Attenuated FAP and who do not have an identifiable APC gene mutation are appropriate for MYH genetic testing. MEDICAL PRE-AUTHORIZATION CRITERIA Medicare DEFINITIONS (continued) Serrated Polyposis Syndrome (SPS)---Also known as Hyperplastic Polyposis Syndrome. SPS is an uncommon condition resulting in multiple colorectal hyperplastic polyps and sessile serrated adenomas/polyps or adenomas. NOTE: There are multiple laboratories in the U.S. that perform colorectal cancer screening. At the present, there is no mechanism to determine whether any of these laboratories should be used preferentially. Myriad Genetic Laboratories is one of these laboratories; Colaris is the name of their proprietary genetic testing panel for LS/HNPCC and Colaris-AP is the name of their genetic testing panel for FAP/AFAP. REFERENCES 1. National Cancer Institute (NCI). Genetics of colorectal cancer (PDQ®). Last Modified: 2016. Accessed at www.cancer.gov/cancertopics/pdq/genetics/colorectal/HealthProfessional/page4. 2. Genetic Testing for Lynch Syndrome. Hayes GTE Report. Winifred S. Hayes, Inc. Dec 11, 2014. 3. Ballhausen WG. Genetic testing for familial adenomatous polyposis. Ann. NY Acad. Sci. 2000;910:36-47. 4. Bonis PA, Trikalinos TA, Chung M, et al. Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications. Tufts-New England Medical Center Evidence Based Practice Center. AHRQ Evidence Report. No 07-E008. May 2007. Accessed at www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=hserta&part=A235754. 5. Provenzale D, Gupta S, Ahnen DJ, et al. Colorectal cancer screening. National Comprehensive Cancer Network. 2016.Version 1. Accessed at www.nccn.org/professionals/physician_gls/PDF/colorectal_screening.pdf. 6. Provenzale D, Gupta S, Ahnen DJ, et al. Genetic/Familial High Risk Assessment: Colorectal. National Comprehensive Cancer Network. 2016. Version 2. Accessed at http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf 7. Jasperson KW and Burt RW,. APC-associated polyposis conditions. GeneReviews. NIH/University of Washington. Dec 18, 1998; updated Mar 27, 2014. Accessed at www.ncbi.nlm.nih.gov/books/NBK1345/. 8. PREMM1,2,6 Model: Prediction Model for MLH1, MSH2, and MSH6 Gene Mutations. Dana Farber Cancer Institute. Accessed at http://premm.dfci.harvard.edu/ 9. Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010;102(3):193-201. 10. Balmaña J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006;296(12):1469-1478. 11. Borràs E, Pineda M, Cadiñanos J, et al. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. J Med Genet. 2013;50(8):552-563. 12. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroent. 2005;128(6):16961716. MEDICAL PRE-AUTHORIZATION CRITERIA Medicare REFERENCES (continued) 13. de Jong AE, Hendriks YM, Kleibeuker JH, et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology. 2006;130(3):665-671. 14. Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. 2013;34(3):490-497. 15. Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2014;109(8):1159-1179. 16. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroent. 2001;121:198-213. 17. Guarinos C, Castillejo A, Barberá VM, et al. EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients. J Mol Diagn. 2010;12(6):765-770. 18. Halbert CH, Lynch H, Lynch J, et al. Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations. Arch Intern Med. 2004;164(17):1881-1887. 19. Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med. 2014;16(1):101-116. 20. Kempers MJ, Kuiper RP, Ockeloen CW, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011;12(1):49-55. 21. Kohlmann W, Gruber SB. Lynch Syndrome. GeneReviews. NIH/University of Washington. Feb 5, 2004; updated May 22, 2014. Accessed at www.ncbi.nlm.nih.gov/books/NBK1211/. 22. Loukola A, Eklin K, Laiho P, et al. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Research. 2001;61:4545-4549. 23. Lynch HT, Boland CR, Gong G, et al. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet. 2006;14(4):390-402. 24. Murphy P, Petersen G, Thibodeau S, Fishel R. Genetic testing for colon cancer: Joint statement of the American College of Medical Genetics and the American Society of Human Genetics. Genetics in Medicine. 2000 Nov/Dec;2(6):362-366. 25. Nielsen M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007b;71:427–433. 26. Niessen RC, Kleibeuker JH, Westers H, et al. PMS2 involvement in patients suspected of Lynch syndrome. Genes Chromosomes Cancer. 2009;48(4):322-329. 27. Offit K. MSH6 mutations in hereditary nonpolyposis colon cancer: Another slice of the pie. J. Clin. Oncol. 2004;22(22):4449-4451. MEDICAL PRE-AUTHORIZATION CRITERIA Medicare REFERENCES (continued) 28. Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, et al. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut. 2012;61(6):865-872. 29. Petersen GM, Brensinger JD, Johnson KA, Giardiello FM. Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer. 1999;86: 2540-2550. 30. Raedle J, Trojan J, Brieger A, et al. Bethesda guidelines: Relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. Ann. Intern. Med. 2001;135:566-576. 31. Ramsey SD, Clarke L, Etzioni R, et al. Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer. Ann. Intern. Med. 2001;135:577-588. 32. Reyes CM, Allen BA, Terdiman JP, Wilson LS. Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma. Cancer. 2002;95:18481856. 33. Rijcken FE, Mourits MJ, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecologic Oncology. 2003;91:74-80. 34. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germline PMS2 mutations. Gastroenterology. 2008;135(2):419-428. 35. Steinke V, Holzapfel S, Loeffler M, et al.; German HNPCC Consortium. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families. Int J Cancer. 2014;135(1):69-77. 36. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Can Inst. 2004 Feb;96:261-268. 37. Vasen HF, Hendriks Y, de Jong AE, et al. Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. Dis. Markers. 2004;20(4-5):207-213. 38. Vassen HF, de Jong AE, Cappell WH, Oliveira J. Familial colorectal cancer risk: ESMO clinical recommendations. Ann Oncol. 2009;20(suppl 4):iv51-iv53. 39. Vasen HF, Möslein G, Alonso A, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44(6):353-362. 40. Win AK, Macinnis RJ, Dowty JG, Jenkins MA. Criteria and prediction models for mismatch repair gene mutations: a review. J Med Genet. 2013;50(12):785-793. REVIEW HISTORY 11/10/04, 04/13/05, 10/11/06, 04/09/08, 04/15/09, 04/21/10, 05/04/11, 05/16/12, 05/01/13, 05/07/14, 05/06/15, 07/06/16