Number:0140
Aetna considers genetic testing medically necessary to establish a molecular diagnosis of an inheritable disease when all of the following are met:
The member displays clinical features, or is at direct risk of inheriting the mutation in question (pre-symptomatic); and
The result of the test will directly impact the treatment being delivered to the member; and
Achondroplasia (FGFR3)AlbinismAlpha-1 antitrypsin deficiency (SERPINA1)Alpha thalassemia/Hb Bart hydrops fetalis syndrome/HbH disease** (HBA1/HBA2, alpha globin 1 and alpha globulin 2)Angelman syndrome (GABRA, SNRPNBardet-Biedl syndromeBeta thalassemia** (beta globin)Bloom syndrome (BLM)CADASIL (see below)Canavan disease (ASPA (aspartoacylase A))Charcot-Marie Tooth disease (PMP-22)Classical lissencephalyCongenital adrenal hyperplasia/21 hydroxylase deficiency (CYP21A2)*Congenital amegakaryocytic thrombocytopeniaCongenital central hypoventilation syndrome (PHOX2B)Congenital muscular dystrophytype 1C (MDC1C) (FKRP (Fukutin related protein))Crouzon syndrome (FGFR2, FGFR3)Cystic fibrosis (CFTR) (see below)Dentatorubral-pallidoluysian atrophyDuchenne/Becker muscular dystrophy (dystrophin)Dysferlin myopathyEhlers-Danlos syndromeEmery-Dreifuss muscular dystrophy (EDMD1, 2, and 3)Fabry diseaseFactor V Leiden mutation (F5 (Factor V))Factor XIII deficiency, congenital (F13 (Factor XIII beta globulin))Familial adenomatous polyposis coli (APC) (see below)Familial dysautonomia (IKBKAP)Familial hypocalciuric hypercalcemia (see below)Familial Mediterranean fever (MEFV)Fanconi anemia (FANCC, FANCD)Fragile X syndrome, FRAXA (FMR1) (see below)Friedreich's ataxia (FRDA (frataxin))Galactosemia (GALT)Gaucher disease (GBA (acid beta glucosidase))Gitelman's syndromeHemoglobin E thalassemia **Hemoglobin S and/or C **Hemophilia A/VWF (F8 ( Factor VIII))Hemophilia B (F9 (Factor IX))Hereditary amyloidosis (TTR variants)Hereditary deafness (GJB2 (Connexin-26, Connexin-32 ))Hereditary hemorrhagic telangiectasia (HHT)Hereditary hemochromatosis (HFE) (see below)Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome (fumarate hydratase (FH) gene)Hereditary neuropathy with liability to pressure palsies (HNPP)Hereditary non-polyposis colorectal cancer (HNPCC) (MLH1, MSH2, MSH6. MSI) ( see below)Hereditary pancreatitis (PRSS1) (see below)Hereditary paraganglioma (SDHD, SDHB)
Hereditary polyposis coli (APC)Hereditary spastic paraplegia 3 (SPG3A) and 4 (SPG4, SPAST) Huntington's disease (HTT, HD(Huntington))Hypochondroplasia (FGFR3)Hypertrophic cardiomyopathy (see below)Jackson-Weiss syndrome (FGFR2)Joubert syndromeKallmann syndrome (FGFR1)Kennedy disease (SBMA)Leber hereditary optic neuropathy (LHON)Leigh Syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) Long QT syndrome (see below)Limb girdle muscular dystrophy (LGMD1, LGMD2) (FKRP (Fukutin related protein))Malignant hyperthermia (RYR1)Maple syrup urine disease (branched-chain keto acid dehydrogenase E1)Marfans syndrome (TGFBR1, TGFBR2)McArdle's diseaseMedium chain acyl coA dehydrogenase deficiency (ACADM)Medullary thyroid carcinomaMELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) (MTTL1, tRNAleu)Meckel-Gruber syndromeMucolipidosis type IV (MCOLN1, mucolipin 1)Mucopolysaccharidoses type 1 (MPS-1)Muenke syndrome (FGFR3)Multiple endocrine neoplasia type 1Muscle-Eye-Brain disease (POMGNT1)MYH-associated polyposis (MYH) (see below)Myoclonic epilepsy (MERRF) (MTTK (tRNAlys))Myotonic dystrophy (DMPK, ZNF-9)Neimann-Pick disease, type A(SMPD1, sphingomyelin phosphodiesterase)Nephrotic syndrome, congenital (NPHS1, NPHS2)Neurofibromatosis type 1 (NF1, neurofibromin)Neurofibromatosis type 2 (Merlin)Neutropenia, congenital cyclicNephronophthisisPhenylketonuria (PAH)Pfeiffer syndrome (FGFR1)Prader-Willi-Angelman syndrome (SNRPN, GABRA5, NIPA1, UBE3A, ANCR, GABRA )Primary dystonia (TOR1A (DYT1))Prothrombin (F2 (Factor II,20210G> A mutation))Pyruvate kinase deficiency (PKD)Retinoblastoma (Rh)Rett syndrome (FOXG1, MECP2)Saethre-Chotzen syndrome (TWIST, FGFR2)SHOX-related short stature (see below)Smith-Lemli-Opitz syndromeSpinal muscular atrophy (SMN1, SMN2)Spinocerebellar ataxia (SCA types 1, 2, 3 (MJD), 6 (CACNA1A), 7, 8, 10, 17 and DRPLA)Tay-Sachs disease (HEXA (hexosaminidase A))Thanatophoric dysplasia (FGFR3)Von Gierke disease (G6PC, Glycogen storage disease, Type 1a)Von Hippel-Lindau syndrome (VHL)Walker-Warburg syndrome (POMGNT1)22q11 deletion syndromes (DCGR (CATCH-22))
* Medically necessary if results of the adrenocortical profile following cosyntropin stimulation test are equivocal or for purposes of genetic counseling.
** Electrophoresis is the appropriate initial laboratory test for individuals judged to be at-risk for a hemoglobin disorder.
In the absence of specific information regarding advances in the knowledge of mutation characteristics for a particular disorder, the current literature indicates that genetic tests for inherited disease need only be conducted once per lifetime of the member.
Note: Genetic testing of Aetna members is excluded from coverage under Aetna's benefit plans if the testing is performed primarily for the medical management of other family members who are not covered under an Aetna benefit plan. In these circumstances, the insurance carrier for the family members who are not covered by Aetna should be contacted regarding coverage of genetic testing. Occasionally, genetic testing of tissue samples from other family members who are not covered by Aetna may be required to provide the medical information necessary for the proper medical care of an Aetna member. Aetna covers genetic testing for heritable disorders in non-Aetna members when all of the following conditions are met:
*** Aetna may also request a copy of the certificate of coverage from the non-member's health insurance plan if: (i) the denial letter from the non-member's insurance carrier fails to specify the basis for non-coverage; (ii) the denial is based on a specific plan exclusion; or (iii) the genetic test is denied by the non-member's insurance carrier as not medically necessary and the medical information provided to Aetna does not make clear why testing would not be of significant medical benefit to the non-member.
Medical Necessity Criteria for Specific Genetic Tests:
Adenosis polyposis coli (APC):
Aetna considers adenosis polyposis coli (APC) genetic testing medically necessary for either of the following indications:
Aetna considers APC genetic testing experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
CADASIL:
Aetna considers DNA testing for CADASIL medically necessary for either of the following indications:
Aetna considers CADASIL genetic testing experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Catecholaminergic polymorphic ventricular tachycardia (CPVT):
Aetna considers genetic testing for CPVT medically necessary for the following indications:
Cystic fibrosis:
Aetna considers genetic carrier testing for cystic fibrosis medically necessary for members in any of the following groups:
Aetna considers genetic carrier testing for cystic fibrosis experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Aetna considers a core panel of 25 mutations that are recommended by the American College of Medical Genetics (ACMG) medically necessary for cystic fibrosis genetic testing. The standard CF transmembrane regulator (CFTR)mutation panel is as follows (Available at: http://www.acmg.net
Factor V Leiden:
Aetna considers Factor V Leiden genetic testing medically necessary for members with an abnormal activated protein C (APC) resistance assay resultand any of the following indications:
Asymptomatic female who is planning pregnancy or is currently pregnant and not taking anticoagulation therapy and eitherof the following:
Aetna considers Factor V Leiden genetic testing experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Aetna considers Factor V HR2 allele DNA mutation analysis experimental and investigational because its effectiveness has not been established.
Prothrombin G20210A Thrombophilia (F2 Gene)
Aetna considers F2 gene testing for prothrombin G20210A thrombophilia when the following criteria are met:
Aetna considers F2 gene testing experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Familial nephrotic syndrome (NPHS1, NPHS2):
Aetna considers genetic testing for familial nephrotic syndrome experimental and investigational for all other indications.
Fragile X:
Aetna considers genetic testingof theFMR1 genemedically necessary for members in any of the following risk categories where the results of the test will affect a member's clinical management or reproductive decisions:
Fetuses of known carrier mothers. Prenatal testing of a fetus by amniocentesis or chorionic villus sampling is indicated following a positive Fragile X carrier test in the mother.
*POI is defined as female younger than 40 years of age with FSH levels in the postmenopausal range and at least three months of amenorrhea, oligomenorrhea or dysfunctional uterine bleeding.
Aetna considers Fragile X DNA testing medically necessary for members with a negative cytogenetic test for fragile X if they have any physical or behavioral characteristics of fragile X syndrome and have a family history of fragile X syndrome or undiagnosed developmental delay/intellectually disability.
Aetna considersFragile X DNA testing medically necessary for members with a phenotype that is not typical for fragile X syndrome who have a cytogenetic test that is positive for fragile X.
Aetna considers population-based fragile X syndrome screening of individuals who are not in any of the above-listed risk categories experimental and investigational because its effectiveness for indications other than the ones listed above has not been established.
Aetna considers genetic testing for hemoglobinopathies and thalassemias (includes, but not limited to: Sickle Cell Anemia [HBB Gene], Alpha Thalassemia [HBA1/HBA2 Genes] and Beta Thalassemia [HBB Gene]) for couples planning pregnancy or seeking prenatal care when the following criteria are met:
Hereditary hemochromatosis:
Aetna considers genetic testing for HFE gene mutations medically necessary for persons who meet all of the following criteria:
Genetic testing for hereditary hemochromatosis is considered experimental and investigational for general population screening and for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome (LS):
Aetna considers genetic testing for HNPCC (MLH1, MSH2, MSH6, PMS2, EPCAMsequence analysis) medically necessary for members who meetany one of the following criteria:
Aetna considers microsatellite instability (MSI) testing or immunohistochemical (IHC) analysis of tumors medically necessary as an initial test in persons with colorectal or endometrial cancerin order to identify those persons who should proceed with HNPCC mutation analysis.
See alsoCPB 0516 - Colorectal Cancer Screening.
Hereditary pancreatitis (PRSS1):
Aetna considers genetic testing for hereditary pancreatitis (PRSS1 mutation) medically necessary in symptomatic persons with any of the following indications:
This policy is based upon guidelines from the Consensus Committees of the European Registry of Hereditary Pancreatic Diseases, the Midwest Multi-Center Pancreatic Study Group and the International Association of Pancreatology (Ellis et al, 2001).
Aetna considers genetic testing for hereditary pancreatitis experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Long QT syndrome:
Aetna considers genetic testing for long QT syndrome medically necessary for either of the following:
Aetna considers a cardiac ion channelopathy genomic sequencing panel and duplication/deletion gene analysis panel medically necessary alternative to single gene testing.Aetna considers genetic testing for long QT syndrome experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Malignant Hyperthermia Susceptibility:
Aetna considers genetic testingfor malignant hyperthermia susceptibility (MHS) medically necessary for either of the following indications:
Aetna considersgenetic testing for malignant hyperthermia susceptibility (MHS) experimental and investigationalfor all other indications.
Aetna considersgenetic testing for central core disease (CCD)experimental and investigationalbecause there is inadequate evidence in the peer-reviewed published literature regarding its effectiveness.
MUTYH-associated polyposis:
Aetna considers testing for MUTYH mutations medically necessary for the following indications:
A clinical diagnosis of SPS is considered in an individual who meets at least one of the following empiric criteria:
Aetna considers MUTYH mutations testing experimental and investigational for any other indications because its effectiveness for indications other than the ones listed above has not been established.
Primary dystonia (DYT1):
Aetna considers genetic testing for DYT1 medically necessary for the following indications:
Aetna considers DYT-1 testing experimental and investigational for all other indications, including the following because its effectiveness for indications other than the ones listed above has not been established:
This policy is adapted from guidelines from the European Federation of Neurological Societies.
Spinal Muscular Atrophy
Aetna considers genetic testing for SMN1 and SMN2medically necessary for the following indications:
*Note: SMA includes arthrogryposis multiplex congenita-SMA (AMC-SMA), congenital axonal neuropathy (CAN), SMA0, SMA I (Werdnig-Hoffmann disease), SMA II, SMA III (Kugelberg-Welander disease) and SMA IV.
Aetna considersgenetic testing for spinal muscular atrophy (SMA)experimental and investigational for the identification of SMN1 deletion carriers in the general population and for all other indications because there is inadequate evidence in the published peer-reviewed clinical literature regarding its effectiveness.
SHOX-related short stature:
Aetna considers genetic testing for SHOX-related short stature medically necessary for children and adolescents with any of the following features:
Aetna considers genetic testing for SHOX-related short stature experimental and investigational for all other indications because its effectiveness for indications other than the ones listed above has not been established.
Hypertrophic cardiomyopathy (HCM):
Aetna considers genetic testing for HCM medically necessary for individuals who meet the following criteria:
Individual to be tested has been evaluated (eg, electrocardiogram [ECG], echocardiography) and exhibits no clinical evidence of HCM; and
Individual has a 1st degree relative (i.e., parent, full-sibling, child)with a known pathogenic gene mutation. (Note: Test for known familial mutation.). Aetna considers genetic testing for HCM experimental and investigational for all other indications because its effectiveness for indications other than the one listed above has not been established.
Thoracic aortic aneurysms and dissections (TAAD)
Aetna considers genetic testing for thoracic aortic aneurysms and dissections (TAAD)medically necessaryfor asymptomatic persons with an affected first-degree blood relative (i.e,. parent, full-sibling, child) with a known deleterious or suspected deleterious mutation in a gene known to cause familial TAAD. (Testing strategy: Test for known familial mutation.) Genetic testing for thoracic aortic aneurysms and dissections (TAAD) is considered experimental and investigational for any other indication, including but not limited to patients clinically diagnosed with TAAD, with a positive family history of the disorder, and for whom a genetic syndrome has been excluded.
Aetna considers TGFBR1 and TGFBR2 gene testing for LDS medically necessary when the following criteria are met:
Asymptomatic individual who has an affected first-degree blood relative (ie, parent, full-sibling, child) with a known deleterious or suspected deleterious mutation (Testing strategy: Test for known familial mutation); or
To confirm or establish a diagnosis of LDS in an individual with characteristics of LDS (eg, aortic/arterial aneurysms/tortuosity, arachnodactyly, bicuspid aortic valve and patent ductus arteriosus, blue sclerae, camptodactyly, cerebral, thoracic or abdominal arterial aneurysms and/or dissections, cleft palate/bifid uvula, club feet, craniosynostosis, easy bruising, joint hypermobility, ocular hypertelorism, pectus carinatum or pectus excavatum, scoliosis, talipes equinovarus, thin skin with atrophic scars, velvety and translucent skin, widely spaced eyes) (Testing strategy: Begin with sequence analysis of TGFBR2. If a mutation is not identified, proceed with sequence analysis of TGFBR1).
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
Genetic testing for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is consideredmedically necessary for the following indications:
Genetic testing for ARVD/C is considered experimental and investigational for all other indications.
Osteogenesis imperfecta
Genetic testing for COL1A1 and COL1A2 gene sequencing in the management of osteogenesis imperfecta types I to IV, is consideredmedically necessary for the following indications:
Genetic testing for COL1A1 and COL1A2 gene sequencing is consideredexperimental and investigationalin any other circumstances, including, but not limited to:
Genetic testing for COL1A1/2 is considered experimental and investigational for all other indications.
Neurofibromatosis
Genetictesting for neurofibromatosis is considered medically necessary for persons who meet all of the following criteria:
Genetic testing for neurofibromatosis is considered experimental and investigational for all other indications.
Marfan syndrome
Aetna considers FNB1 gene testing forMarfan syndrome (MFS) medically necessary for the following indications:
Testing of an asymptomatic individual who has an affected first-degree blood relative (i.e,. parent, full-sibling, child) with a known deleterious or suspected deleterious mutation. (Testing strategy: Test for known familial mutation); or
Genetic testing for Marfan syndrome (MFS) is consideredexperimental and investigationalfor any other indications, including but not limited to:
Table1: Clinical Diagnostic Criteria for Marfan Syndrome
Aortic criterion (aortic diameter Z greater than or equal to two or aortic root dissection andectopia lentis*;or
Read more:
Genetic Testing - Medical Clinical Policy Bulletins | Aetna
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