Humana Genetic Testing for Carrier Screening Form

. Description Genetic testing may be performed on prospective parents to identify potential diseases that may be passed to their offspring. This is known as carrier screening. Carriers are usually themselves unaffected by the disease, showing no symptoms, however may be at risk for passing the disease onto their children. Preferably, carrier screening takes place before pregnancy (preconception), but can occur during the early stages of pregnancy. A consensus from the professional organization guidelines and recommendations is used when considering which genetic conditions may be appropriate for carrier screening and includes the following: • Ability to be diagnosed prenatally and allow opportunities for antenatal intervention to improve perinatal outcomes, changes in delivery management to Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 2 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. optimize newborn and infant outcomes and education of the parents about special care needs after birth.11 • Carrier frequency of 1 in 100 or greater with a well-defined phenotype that would have a detrimental effect on quality of life (eg, cause cognitive or physical impairment, require surgical or medical intervention). • Should not include conditions primarily associated with adult-onset of disease. • Should not replace newborn screening or risk-based genetic testing (eg, known family history). • Targeted testing based on an individual’s race, ethnicity or family history for single-gene disorders that have an autosomal or X-linked recessive inheritance pattern. Examples of these diseases include, but may not be limited to: alpha thalassemia, cystic fibrosis (CF) and fragile X syndrome. Other conditions, such as nonsyndromic hearing loss may have one or more inheritance patterns. (Refer to Coverage Limitations section) Expanded carrier screening refers to the practice of screening for a large number of conditions in a panethnic approach (without regard to race or ethnicity) and can include testing for many genetic disorders depending on specific laboratory offerings. (Refer to Coverage Limitations section) For information regarding carrier screening for muscular dystrophy or spinal muscular atrophy (SMA), please refer to Genetic Testing for Muscular Dystrophy and Spinal Muscular Atrophy Medical Coverage Policy. For information regarding carrier screening for inherited thrombophilias, please refer to Genetic and Coagulation Testing for Noncancer Blood Disorders Medical Coverage Policies. For information regarding prenatal genetic testing, please refer to Prenatal Invasive Diagnostic Genetic Testing and Noninvasive Prenatal Testing Medical Coverage Policies. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 3 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. For information regarding genetic testing for the following, please refer to Genetic Testing Medical Coverage Policy: • DNA banking or preservation • General population screening • Individual 17 years of age or younger for adult-onset conditions • Interpretation and reporting for molecular pathology procedure • Polygenic risk score (PRS) and single nucleotide polymorphisms (SNPs) • Repeat germline or somatic genetic testing • Retrieved archival tissue Humana recognizes that the field of genetic testing is rapidly changing and that other tests may become available. Coverage Determination Any state mandates for genetic testing for carrier screening take precedence over this medical coverage policy. Genetic testing may be excluded by certificate. Please consult the member’s individual certificate regarding Plan coverage. Apply General Criteria for Genetic and Pharmacogenomics Tests when disease- or gene-specific criteria are not available on a medical coverage policy. For information regarding General Criteria for Genetic and Pharmacogenomics Tests, please refer to Genetic Testing Medical Coverage Policy. Ashkenazi Jewish Carrier Screening/Panel Testing Humana members may be eligible under the Plan for genetic testing for Ashkenazi Jewish carrier screening or panel testing for the genetic conditions listed in Table 1 for reproductive decision making when the following criteria are met: • Pre- and post-test genetic counseling; AND • Individual to be tested is of reproductive age and is of Ashkenazi Jewish ancestry* or is the reproductive partner of an individual of Ashkenazi Jewish ancestry*; See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 4 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. AND ANY of the following: o Individual to be tested has an affected family member, carrier family member or reproductive partner with a known pathogenic variant in a gene which causes any of the genetic conditions listed in Table 1; OR o Individual to be tested has a family member or reproductive partner with at least one of the genetic conditions listed in Table 1: Table 1: Ashkenazi Jewish Carrier Screening – Genetic Conditions Bloom syndrome Canavan disease CF Familial dysautonomia Familial hyperinsulinism Fanconi anemia Gaucher disease Glycogen storage disease Type 1 Joubert syndrome Lipoamide dehydrogenase deficiency (E3) Maple syrup urine disease Mucolipidosis IV Nemaline myopathy Niemann-Pick Type A Tay-Sachs disease *If only one individual of the couple is of Ashkenazi Jewish ancestry, then testing begins with the individual of Ashkenazi Jewish ancestry. If positive for a disease listed above, proceed to test the non-Ashkenazi Jewish partner for that disease using the most appropriate technology for his/her ethnicity. If the individual to be tested is already pregnant, both partners may be screened simultaneously. For information regarding CF carrier screening for individuals of non-Ashkenazi Jewish ancestry or for expanded CF carrier screening for individuals of Ashkenazi Jewish ancestry, please refer to Genetic Testing for Cystic Fibrosis Medical Coverage Policy. Fragile X Syndrome (FMR1 Gene) Humana members may be eligible under the Plan for genetic testing of the FMR1 gene for carrier screening for fragile X syndrome for reproductive decision making when the following criteria are met: • Pre- and post-test genetic counseling; AND See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 5 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. o Individual to be tested has a family history of fragile X-related disorders or unexplained intellectual disability or developmental delay, autism or primary ovarian insufficiency (POI)** (also known as premature ovarian failure [POF]); OR o Individual to be tested has an affected or carrier family history with a known pathogenic variant **POI is defined as female 39 years of age or younger with FSH levels in the postmenopausal range and at least three months of amenorrhea, oligomenorrhea or dysfunctional uterine bleeding.71 Alpha Thalassemia (HBA1 and HBA2 Genes) and Beta Thalassemia (HBB Gene) Humana members may be eligible under the Plan for genetic testing for carrier screening for alpha and beta thalassemias for reproductive decision making when the following criteria are met: • Pre- and post-test genetic counseling; AND • Individual to be tested is of reproductive age or is the reproductive partner AND ANY of the following: o Individual to be tested has a first-degree relative with confirmed diagnosis of alpha or beta thalassemia; OR o Individual to be tested is affected or is a known carrier of alpha or beta thalassemia; OR o Individual to be tested has equivocal or indeterminate diagnosis based on results of prior testing such as complete blood count (CBC) and hemoglobin analysis by qualitative/quantitative electrophoresis, high performance liquid chromatography (HPLC) or isoelectric focusing See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 6 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Tay-Sachs Disease (HEXA Gene) Humana members may be eligible under the Plan for genetic testing of the HEXA gene^ for carrier screening for Tay-Sachs disease for reproductive decision making when ANY of the following criteria are met: • Pre- and post-test genetic counseling; AND o Individual to be tested has an abnormal or inconclusive beta-hexosaminidase A enzyme activity; OR o Individual to be tested has an affected or carrier family member in whom a variant has been identified; OR o Individual to be tested is of Ashkenazi Jewish ancestry* or the reproductive partner of an individual of Ashkenazi Jewish ancestry*; OR o Individual to be tested is the reproductive partner of an individual affected with or carrier of Tay-Sachs disease ^Testing begins with a targeted gene panel. If negative, gene sequence analysis may be considered. Other Inherited Conditions Humana members may be eligible under the Plan for genetic testing for carrier screening of other inherited conditions including, but not limited to: Canavan disease, Fabry disease, Gaucher disease, mucolipidosis IV for reproductive decision making when ANY of the following criteria are met: • Pre- and post-test genetic counseling; AND o Individual to be tested has an affected or carrier family member in whom a variant(s) have been identified; OR o Individual to be tested is of reproductive age with a family history of a genetic condition that puts that individual at higher risk than the general population to be a carrier; OR See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 7 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. o Individual to be tested is the reproductive partner of an individual affected with or carrier of an inherited condition Note: The criteria for genetic testing for carrier screening are not consistent with the Medicare National Coverage Policy and therefore may not be applicable to Medicare members. Refer to the CMS website for additional information. Coverage Limitations Humana members may NOT be eligible under the Plan for genetic testing for carrier screening for any indications other than those listed above including, but may not be limited to: • AFF2 gene testing for fragile X syndrome (81171 and 81172) • CFTR deletion/duplication analysis for CF (81222) These are considered experimental/investigational as they are not identified as widely used and generally accepted for any proposed use as reported in nationally recognized peer-reviewed medical literature published in the English language. Humana members may NOT be eligible under the Plan for genetic testing for carrier screening for any indications other than those listed above including, but may not be limited to: • Detection of genetic susceptibility to adult-onset/late-onset disorders including, but not limited to, genetic testing for breast cancer (eg, BRCA gene testing); OR • GJB2 and GJB6 gene testing for nonsyndromic hearing loss (81252, 81253, 81254, 81430, 81431 and S3844); OR • Screening for hemoglobinopathies or thalassemias other than alpha and beta thalassemia including, but not limited to, sickle cell anemia (HBB gene) (S3850) These indications are considered not medically necessary as defined in the member’s individual certificate. Please refer to the member’s individual certificate for the specific definition. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 8 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Humana members may NOT be eligible under the Plan for expanded carrier screening panels for multiple heritable conditions (81443) including, but may not be limited to: • Carrier Status DNA Insight • FirstGene • Foresight Carrier Screen • GeneAware (Basic, ACMG and ACOG, Ashkenazi Jewish and Complete) Panels • Genesys Carrier Panel (0400U) • InheriGen, InheriGen Plus • Inheritest (Society-Guided, Ashkenazi Jewish and Comprehensive) Panels • Invitae (Broad and Comprehensive) Carrier Screens • Natera Horizon Carrier Screen • NxGen MDx (Essential, Super, Early Advantage) Carrier Panels • Otogenetics GxVISION (Basic with CF, ACOG/ACMG with CF, Ashkenazi Jewish, Pan-Ethnic) Carrier Screening Tests • QHerit Expanded Carrier Screen These are considered not medically necessary as defined in the member’s individual certificate. Please refer to the member’s individual certificate for the specific definition. Please refer to panel testing language above in the Coverage Determination section. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 9 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Background Additional information about inherited genetic conditions may be found from the following websites: • National Library of Medicine Medical Alternatives Physician consultation is advised to make an informed decision based on an individual’s health needs. Humana may offer a disease management program for this condition. The member may call the number on his/her identification card to ask about our programs to help manage his/her care. Provider Claims Codes Any CPT, HCPCS or ICD codes listed on this medical coverage policy are for informational purposes only. Do not rely on the accuracy and inclusion of specific codes. Inclusion of a code does not guarantee coverage and or reimbursement for a service or procedure. The table below includes general codes for Genetic Testing for Carrier Screening. For codes related to a specific gene and/or genetic condition, please refer to the appropriate genetic testing medical coverage policy. CPT® Code(s) 81171 81172 81200 81205 Description AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and methylation status) ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X) BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X) Comments Not Covered Not Covered See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 10 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 81209 81220 81221 BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines) CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants 81222 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants 81223 81224 81242 81243 81244 81250 81251 81252 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; intron 8 poly-T analysis (eg, male infertility) FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T) FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; evaluation to detect abnormal (eg, expanded) alleles FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; characterization of alleles (eg, expanded size and promoter methylation status) G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X) GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A) GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence Not Covered if used to report any test outlined in Coverage Limitations section Not Covered See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 11 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Not Covered Not Covered 81253 81254 81255 81257 81258 81259 81260 81269 81290 81330 GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; known familial variants GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (eg, nonsyndromic hearing loss) gene analysis, common variants (eg, 309kb [del(GJB6-D13S1830)] and 232kb [del(GJB6-D13S1854)]) HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, Constant Spring) HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; known familial variant HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; full gene sequence IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P) HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330) See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 12 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 81361 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE) 81362 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s) 81363 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s) 81364 HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); full gene sequence 81401 MOLECULAR PATHOLOGY PROCEDURE LEVEL 2 81412 81430 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 Hearing loss (eg, nonsyndromic hearing loss, 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, USH1C, USH1G, USH2A, and WFS1 Not Covered if used to report any test outlined in Coverage Limitations section Not Covered if used to report any test outlined in Coverage Limitations section Not Covered if used to report any test outlined in Coverage Limitations section Not Covered if used to report any test outlined in Coverage Limitations section Not Covered if used to report any test outlined in Coverage Limitations section Not Covered See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 13 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 81431 Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes Not Covered 81443 Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH) 81479 Unlisted molecular pathology procedure 83080 96040 0400U b-Hexosaminidase, each assay Medical genetics and genetic counseling services, each 30 minutes face-to-face with patient/family Obstetrics (expanded carrier screening), 145 genes by next- generation sequencing, fragment analysis and multiplex ligation- dependent probe amplification, DNA, reported as carrier positive or negative Not Covered Not Covered if used to report any test outlined in Coverage Limitations section Not Covered New Code Effective 07/01/2023 CPT® Category III Code(s) No code(s) identified Description Comments HCPCS Code(s) S0265 S3844 S3845 Description Comments Genetic counseling, under physician supervision, each 15 minutes DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness Genetic testing for alpha-thalassemia Not Covered See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 14 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. S3846 S3849 S3850 Genetic testing for hemoglobin E beta-thalassemia Genetic testing for Niemann-Pick disease Genetic testing for sickle cell anemia References 1. American College of Medical Genetics and Genomics (ACMG). ACMG Policy Statement. ACMG position statement on prenatal/preconception expanded carrier screening. https://www.acmg.net. Published June 2013. Accessed November 13, 2023. 2. 3. 4. 5. American College of Medical Genetics and Genomics (ACMG). ACMG Practice Guidelines. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. https://www.acmg.net. Published January 2008. Accessed November 13, 2023. American College of Medical Genetics and Genomics (ACMG). ACMG Practice Resource. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). https://www.acmg.net. Published January 19, 2019. Accessed November 13, 2023. American College of Medical Genetics and Genomics (ACMG). ACMG Practice Resource. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). https://www.acmg.net. Published April 27, 2021. Accessed November 13, 2023. American College of Medical Genetics and Genomics (ACMG). ACMG Standards and Guidelines. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the standards and guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. https://www.acmg.net. Published July 2013. Accessed November 13, 2023. 6. American College of Medical Genetics and Genomics (ACMG). ACMG Statement. Updated recommendations for CFTR carrier screening: a position statement of the American College of Medical Genetics and Genomics See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 15 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. (ACMG). https://www.acmg.net. Published June 2023. Accessed November 13, 2023. American College of Medical Genetics and Genomics (ACMG). ACMG Technical Standard. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). https://www.acmg.net. Published May 14, 2020. Accessed November 13, 2023. American College of Medical Genetics and Genomics (ACMG). ACMG Technical Standard. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). https://www.acmg.net. Published February 1, 2021. Accessed November 13, 2023. American College of Obstetricians and Gynecologists (ACOG). Committee Opinion. Carrier screening for genetic conditions. https://www.acog.org. Published March 2017. Accessed November 13, 2023. 7. 8. 9. 10. American College of Obstetricians and Gynecologists (ACOG). Committee Opinion. Carrier screening in the age of genomic medicine. https://www.acog.org. Published March 2017. Updated 2020. Accessed November 13, 2023. 11. ECRI Institute. ECRIgene Genetic Test Hotline Response. Full gene CFTR sequencing versus targeted variant testing for cystic fibrosis carrier screening. https://www.ecri.org. Published March 12, 2020. Accessed November 9, 2023. 12. ECRI Institute. Hotline Response (ARCHIVED). Genetic testing for diagnosing alpha thalassemia. https://www.ecri.org. Published July 8, 2014. Accessed November 9, 2023. 13. ECRI Institute. Hotline Response (ARCHIVED). Genetic testing for diagnosing beta thalassemia. https://www.ecri.org. Published July 8, 2014. Accessed November 9, 2023. 14. Hayes, Inc. Clinical Utility Evaluation. Genetic testing in patients with or suspected of congenital and/or prelingual nonsyndromic hearing loss. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 16 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. https://evidence.hayesinc.com. Published June 21, 2019. Updated June 7, 2022. Accessed November 9, 2023. 15. Hayes, Inc. Clinical Utility Evaluation. Genetic testing in patients with or suspected of postlingual nonsyndromic hearing loss. https://evidence.hayesinc.com. Published July 19, 2019. Updated June 7, 2022. Accessed November 9, 2023. 16. Hayes, Inc. Clinical Utility Evaluation. Prenatal and preimplantation genetic testing for risk of hearing loss. https://evidence.hayesinc.com. Published December 11, 2019. Updated June 7, 2022. Accessed November 9, 2023. 17. Hayes, Inc. Genetic Test Evaluation (GTE) Indication (ARCHIVED). Genetic testing for Fragile X syndrome. https://evidence.hayesinc.com. Published February 16, 2017. Updated March 31, 2021. Accessed November 9, 2023. 18. Hayes, Inc. Genetic Test Evaluation (GTE) Report (ARCHIVED). Alpha- thalassemia. https://evidence.hayesinc.com. Published February 5, 2015. Accessed November 9, 2023. 19. Hayes, Inc. Genetic Test Evaluation (GTE) Report (ARCHIVED). Tay-Sachs disease (TSD) testing in individuals of non-Ashkenazi Jewish origin. https://evidence.hayesinc.com. Published December 8, 2011. Updated December 12, 2014. Accessed November 9, 2023. 20. Hayes, Inc. Genetic Test Evaluation (GTE) Synopsis (ARCHIVED). Beta- thalassemia. https://evidence.hayesinc.com. Published December 16, 2011. Accessed November 9, 2023. 21. Hayes, Inc. Genetic Test Evaluation (GTE) Synopsis (ARCHIVED). Sickle cell disease (SCD). https://evidence.hayesinc.com. Published December 19, 2011. Accessed November 9, 2023. 22. Hayes, Inc. Medical Technology Directory (ARCHIVED). Genetic testing for Tay- Sachs disease. https://evidence.hayesinc.com. Published August 25, 2003. Updated March 6, 2008. Accessed November 9, 2023. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 17 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 23. Hayes, Inc. Precision Medicine Insights (ARCHIVED). Expanded carrier screening. https://evidence.hayesinc.com. Published August 17, 2020. Accessed November 9, 2023. 24. MCG Health. Alpha thalassemia – HBA1 and HBA2 genes. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 25. MCG Health. Ashkenazi Jewish genetic carrier panel. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 26. MCG Health. Autosomal and X-linked recessive disease carrier screening – expanded gene panels. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 27. MCG Health. Beta thalassemia – HBB gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 28. MCG Health. Bloom syndrome – BLM gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 29. MCG Health. Canavan disease – ASPA gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 30. MCG Health. Cystic fibrosis – CFTR gene and mutation panel. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 31. MCG Health. Deafness and hearing loss, nonsyndromic – gene and gene panel testing. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 32. MCG Health. Familial dysautonomia – ELP1 gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 33. MCG Health. Fanconi anemia – FANC genes and gene panel testing. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 34. MCG Health. Fragile X syndrome – FMR1 gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 18 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 35. MCG Health. Gaucher disease – GBA gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 36. MCG Health. Hemoglobin C and E – HBB gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 37. MCG Health. Joubert syndrome – gene testing and gene panels. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 38. MCG Health. Maple syrup urine disease, type 1 or type 2 – BCKDHA, BCKDHB, and DBT genes. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 39. MCG Health. Maple syrup urine disease, type 3 – DLD gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 40. MCG Health. Mucolipidosis IV – MCOLN1 gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 41. MCG Health. Niemann-Pick disease (acid sphingomyelinase deficiency) – NPC1, NPC2 and SMPD1 genes. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 42. MCG Health. Sickle cell disease – HBB gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 43. MCG Health. Tay-Sachs disease and variants – HEXA gene. 27th edition. https://www.mcg.com. Accessed November 9, 2023. 44. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Alpha-thalassemia. https://www.ncbi.nlm.nih.gov. Published November 1, 2005. Updated October 1, 2020. Accessed November 13, 2023. 45. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Beta-thalassemia. https://www.ncbi.nlm.nih.gov. Published September 28, 2000. Updated July 20, 2023. Accessed November 13, 2023. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 19 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 46. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Bloom’s syndrome. https://www.ncbi.nlm.nih.gov. Published March 22, 2006. Updated October 12, 2023. Accessed November 13, 2023. 47. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Canavan disease. https://www.ncbi.nlm.nih.gov. Published September 16, 1999. Updated September 13, 2018. Accessed November 13, 2023. 48. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Fabry disease. https://www.ncbi.nlm.nih.gov. Published August 5, 2002. Updated March 9, 2023. Accessed November 13, 2023. 49. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Familial dysautonomia. https://www.ncbi.nlm.nih.gov. Published January 21, 2003. Updated November 4, 2021. Accessed November 13, 2023. 50. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Fanconi anemia. https://www.ncbi.nlm.nih.gov. Published February 14, 2002. Updated June 3, 2021. Accessed November 13, 2023. 51. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. FMR1 disorders. https://www.ncbi.nlm.nih.gov. Published June 16, 1998. Updated November 21, 2019. Accessed November 13, 2023. 52. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Friedreich ataxia. https://www.ncbi.nlm.nih.gov. Published December 18, 1998. Updated June 1, 2017. Accessed November 13, 2023. 53. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Gaucher disease. https://www.ncbi.nlm.nih.gov. Published July 27, 2000. Updated March 9, 2023. Accessed November 13, 2023. 54. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Glycogen storage disease type 1. https://www.ncbi.nlm.nih.gov. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 20 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Published April 19, 2006. Updated October 14, 2021. Accessed November 13, 2023. 55. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. HEXA disorders. https://www.ncbi.nlm.nih.gov. Published March 11, 1999. Updated October 1, 2020. Accessed November 13, 2023. 56. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Joubert syndrome. https://www.ncbi.nlm.nih.gov. Published July 9, 2003. Updated June 29, 2017. Accessed November 13, 2023. 57. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Maple syrup urine disease. https://www.ncbi.nlm.nih.gov. Published January 30, 2006. Updated April 23, 2020. Accessed November 13, 2023. 58. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Mucolipidosis IV. https://www.ncbi.nlm.nih.gov. Published January 28, 2005. Updated February 11, 2021. Accessed November 13, 2023. 59. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Niemann-Pick disease type C. https://www.ncbi.nlm.nih.gov. Published January 26, 2000. Updated December 10, 2020. Accessed November 13, 2023. 60. National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Sickle cell disease. https://www.ncbi.nlm.nih.gov. Published September 15, 2003. Updated November 17, 2022. Accessed November 13, 2023. 61. National Society of Genetic Counselors (NSGC). Practice Guidelines. Expanded carrier screening for reproductive risk assessment: an evidence-based practice guideline from the National Society of Genetic Counselors. https://www.nsgc.org. Published February 2023. Accessed November 13, 2023. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 21 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 62. National Society of Genetic Counselors (NSGC). Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. https://www.nsgc.org. Published October 2013. Accessed November 13, 2023. 63. National Society of Genetic Counselors (NSGC). Fabry disease practice resource: focused revision. https://www.nsgc.org. Published September 2020. Accessed November 13, 2023. 64. National Society of Genetic Counselors (NSGC). Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the National Society of Genetic Counselors. https://www.nsgc.org. Published December 2012. Accessed November 13, 2023. 65. Schrijver I, Külm M, Gardner P, et al. Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. J Mol Diagn. 2007;9(2):228-236. 66. Scott S, Edelmann Liu L, et al. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish genetic diseases. Hum Mutat. 2010;31(11):1240-1250. 67. UpToDate, Inc. Aspartoacylase deficiency (Canavan disease). https://www.uptodate.com. Updated October 2023. Accessed November 9, 2023. 68. UpToDate, Inc. Clinical manifestations and diagnosis of spontaneous primary ovarian insufficiency (premature ovarian failure). https://www.uptodate.com. Updated October 2023. Accessed November 9, 2023. 69. UpToDate, Inc. Cystic fibrosis: carrier screening. https://www.uptodate.com. Updated October 2023. Accessed November 9, 2023. 70. UpToDate, Inc. Diagnosis of thalassemia (adults and children). https://www.uptodate.com. Updated October 2023. Accessed November 9, 2023. See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 22 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. 71. UpToDate, Inc. Fabry disease: clinical features and diagnosis. https://www.uptodate.com. Updated October 2023. Accessed November 9, 2023. 72. UpToDate, Inc. Gaucher disease: pathogenesis, clinical manifestations, and diagnosis. https://www.uptodate.com. Updated October 2023. Accessed November 9, 2023. 73. UpToDate, Inc. Hearing loss in children: etiology. https://www.uptodate.com. Updated October 2023. Accessed November 9, 2023. 74. UpToDate, Inc. Hearing loss in children: screening and evaluation. https://www.uptodate.com. Updated October 2023. 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All legislation/regulations on this subject may not be included. This document is for informational purposes only. Genetic Testing for Carrier Screening Effective Date: 12/14/2023 Revision Date: 12/14/2023 Review Date: 12/14/2023 Policy Number: HUM-0463-037 Page: 23 of 23 Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing. Appendix A Pre- and Post-Test Genetic Counseling Criteria Pre- and post-test genetic counseling performed by any of the following qualified medical professionals Genetic counselor who is board-certified or board-eligible by the American Board of Medical Genetics and Genomics (ABMGG) or American Board of Genetic Counseling, Inc (ABGC) and is not employed by a commercial genetic testing laboratory; OR Genetic clinical nurse (GCN) or advanced practice nurse in genetics (APNG) who is credentialed by the Genetic Nursing Credentialing Commission (GNCC) or the American of Nurses Credentialing Center (ANCC) and is not employed by a commercial genetic testing laboratory; OR Medical geneticist who is board-certified or board-eligible by ABMGG; OR Treating physician who has evaluated the individual to be tested and has completed a family history of three generations Appendix B Family Relationships Degree of Relationship Relative of the Individual to be Tested First-degree Second-degree Third-degree Child, full-sibling, parent Aunt, uncle, grandchild, grandparent, nephew, niece, half-sibling First cousin, great aunt, great-uncle, great-grandchild, great- grandparent, half-aunt, half-uncle See the DISCLAIMER. All Humana member health plan contracts are NOT the same. All legislation/regulations on this subject may not be included. This document is for informational purposes only.