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Health Evidence Review Commission's Genetics Advisory Panel

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Health Evidence Review Commission's Genetics Advisory Panel Health Evidence Review Commission's Genetics Advisory Panel October 13, 2015 9:00 AM Barbara Roberts Human Services Building, Room 559 500 Summer St NE Salem, OR 97301 Section 1.0 Call to Order AGENDA Genetics Advisory Panel (GAP) October 13, 2015 9:00 am – 11:00 am Teleconference Public location: Human Services Building, Room 559 500 Summer Street NE Salem OR 97301 (All agenda items are subject to change and times listed are approximate) # Time Item Presenter 1 9:00 AM Call to Order & Introductions Karen Kovak 2 9:05 AM Purpose of Meeting Ariel Smits Ariel Smits 3 9:10 AM Review of New Genetics CPT Codes for 2016 Karen Kovak Revisions to the non-prenatal genetic testing 4 10:10 AM Ariel Smits guideline 5 10:50 AM Public Comment 6 11:00 AM Adjournment Karen Kovak Highlights Oral Health Advisory Panel Conference Call hosted at: General Services Building, Bachelor Butte Converence Room 1225 Ferry Street, Salem, Oregon 10/16/2014 10:00-11:30 am Members Present:Karen Novak; Kathryn Murray; Sudge Budden, MD; Sue Richards, PhD. Staff Present: Darren Coffman; Ariel Smits, MD, MPH; Denise Taray. Also Attending: Devki Saraiya, Myriad Genetics Review of New Genetics CPT Codes for 2015 The following recommendations were suggested for staff to present to the Value-based Benefits Subcommittee at their November 13, 2014 meeting: Recommendation Impact of detecting a mutation CPT Descriptor Cover Don't Change Change Provide Provide Code Cover treatment health Prognosis genetic monitoring counseling 81410 Aortic dysfunction or dilation (eg, Marfan X X X X X syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1, GAP Highlights 10-16-2014 Page 1 81411 Aortic dysfunction or dilation (eg, Marfan X X X X X syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1 81415 Exome (eg, unexplained constitutional or X X X X heritable disorder or syndrome); sequence analysis 81416 Exome (eg, unexplained constitutional or X X X X heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure) 81417 Exome (eg, unexplained constitutional or X X X X heritable disorder or syndrome); re- evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome) 81425 Genome (eg, unexplained constitutional or X heritable disorder or syndrome); sequence analysis 81426 Genome (eg, unexplained constitutional or X heritable disorder or syndrome); sequence analysis, each comparator genome (eg, parents, siblings) (List separately in addition to code for primary procedure) GAP Highlights 10-16-2014 Page 2 81427 Genome (eg, unexplained constitutional or X heritable disorder or syndrome); re- evaluation of previously obtained genome sequence (eg, updated knowledge or unrelated condition/syndrome) 81430 Hearing loss (eg, nonsyndromic hearing loss, X X X X X Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3 81431 Hearing loss (eg, nonsyndromic hearing loss, X X X X X Usher syndrome, Pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes 81435 Hereditary colon cancer syndromes (eg, Lynch X X syndrome, familial adenomatosis polyposis); genomic sequence analysis panel, must include analysis of at least 7 genes, including APC, CHEK2, MLH1, MSH2, MSH6, MUTYH, and PMS2 81436 Hereditary colon cancer syndromes (eg, Lynch X X syndrome, familial adenomatosis polyposis); duplication/deletion gene analysis panel, must include analysis of at least 8 genes, including APC, MLH1, MSH2, MSH6, PMS2, EPCAM, CHEK2, and MUTYH GAP Highlights 10-16-2014 Page 3 81440 Nuclear encoded mitochondrial genes (eg, X X X X X neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, S 81460 Whole mitochondrial genome (eg, Leigh X X X X X syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS], myoclonic epilepsy with ragged-red fibers [MERFF], neuropathy, ataxia, and retinitis pigmentosa [NARP], Leber hereditary op 81465 Whole mitochondrial genome large deletion X X X X X analysis panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed 81470 X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); genomic sequence analysis panel, must include sequencing of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, 81471 X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); duplication/deletion gene analysis, must include analysis of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, GAP Highlights 10-16-2014 Page 4 Staff will follow-up on the following additional items and present any additional input directly to the VbBS for consideration:: Should suggestion to cover 81417 be reconsidered in light of Cary Harding’s comment that “If any validation of an exome result is necessary, that should be done by another method rather than repeating an exome analysis”? Solicit member comments on additional potential changes to the non-prenatal genetic testing guideline. Should there be any restrictions on mitochondrial genome testing? Contact experts regarding the X-linked intellectual disability testing: o Need more information regarding recommendations to cover or not cover/any restrictions in coverage o Non-prenatal genetic testing guideline section on intellectual disability testing would need to be changed to accommodate this type of testing if covered Review USPSTF vs NCCN guidelines on what defines a high risk patient for breast cancer testing. GAP Highlights 10-16-2014 Page 5 Section 2.0 New Codes 2016 Non-Prenatal Genetic Testing CPT Code Recommendations Date: 10/13/15 Recommendation Impact of detecting a mutation Limitations & Comments CPT Descriptor Cover Don't Change Change Provide Provide Code Cover treatment health Prognosis genetic monitoring counseling 81162 BRCA1, BRCA2 (breast cancer 1 and 2) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis 81412 Ashkenazi Jewish associated disorders ( eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA IKBKAP, MCOLN1 and SMPD1 81432 Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); geonomic sequence analysis panel, must include sequencing of at least 14 genes, including ATM, BRCA1, BRCA2,BRIP1, CDH1, MLH1, MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, STK11 AND TP53 81433 Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer) duplication/deletion analysis panel, must include analyses for BRCA1, BRCA2, MLH1, MSH2, AND STK11 1 Recommendation Impact of detecting a mutation Limitations & Comments CPT Descriptor Cover Don't Change Change Provide Provide Code Cover treatment health Prognosis genetic monitoring counseling 81434 Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophyl, genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PRPF31, PRPH2, RDH12, RHO, RP1 RP2, RPE65, RPGR, and USH2A 81437 Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma; genomic sequence analysis panel, must include sequencing of at least 6 genes, including MAX, SDHB, SDHC, SDHD, TMEM127. and VHL 81438 Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL 81442 Noonan spectrum disorders (eg, Noonan Syndrome, cardio -facio - cutaneous syndrome, Costello syndrome, LEOPARD Syndrome, Noonan-like syndrome), genomic sequence analysis panel , must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, DRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1,SHOC2, and SOS1 2 Recommendation Impact of detecting a mutation Limitations & Comments CPT Descriptor Cover Don't Change Change Provide Provide Code Cover treatment health Prognosis genetic monitoring counseling 81490 Autoimmune (rheumatoid arthritis), analysis of 12 biomarkers using immunoassays, utilizing serum, prognostic algorithm reported as a disease activity score 81493 Coronary artery disease, mRNA, gene expression profiling by real-time RT-PRC of 23 genes, utilizing whole peripheral blood, algorithm reported as a risk score 81595 Cardiology (heart
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