General Approach to Genetic Testing

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1 Protocol General Approach to Genetic Testing (20491) (Formerly Genetic Testing for Inherited Disorders) Medical Benefit Effective Date: 01/01/14 Next Review Date: 09/14 Preauthorization Yes Review Dates: 01/11, 01/12, 09/12, 05/13, 09/13 The following Protocol contains medical necessity criteria that apply for this service. It is applicable to Medicare Advantage products unless separate Medicare Advantage criteria are indicated. If the criteria are not met, reimbursement will be denied and the patient cannot be billed. Preauthorization is required. Please note that payment for covered services is subject to eligibility and the limitations noted in the patient s contract at the time the services are rendered. Description There are numerous commercially available genetic tests, including those used to guide intervention in symptomatic or asymptomatic individuals, to identify individuals at risk for future disorders, to predict the prognosis of diagnosed disease and to predict treatment response. This concept policy offers a framework for evaluating the utility of genetic tests, by classifying the types of genetic tests into clinically relevant categories and developing criteria that can be used for evaluating tests in each category. Background Purpose: The purpose of this Protocol is to provide assistance in evaluating the utility of genetic tests. In providing a framework for evaluating genetic tests, this Protocol will not attempt to determine the clinical utility of genetic testing for specific disorders. Rather, it provides guidelines that can be applied to a wide range of different tests. This Protocol applies only if there is not a separate Protocol that outlines specific criteria for testing. If a separate Protocol does exist, then the criteria for medical necessity in that Protocol supersede the guidelines in this Protocol. This Protocol does not include cytogenetic testing (karyotyping), biochemical testing, or molecular testing for infectious disease. This Protocol does not address prenatal testing. Prenatal testing involves particular ethical concerns that are not easily addressed via review of the scientific evidence. Definitions Genetic testing: Genetic testing involves the analysis of chromosomes, DNA (deoxyribonucleic acid), RNA (ribonucleic acid), genes or gene products to detect inherited (germline) or non inherited (somatic) genetic variants related to disease or health. Carrier testing: A carrier of a genetic disorder has one abnormal allele for a disorder. When associated with an autosomal recessive or X linked disorder, carriers of the causative mutation are typically unaffected. When associated with an autosomal dominant disorder, the individual has one normal and one mutated copy of the gene, and may be affected with the disorder, may be unaffected but at high risk of developing the disease later in life, or the carrier may remain unaffected because of the sex limited nature of the disease. Page 1 of 8

2 Carrier testing may be offered to individuals: A) who have family members with a genetic condition; B) who have family members who are identified carriers; and C) who are members of ethnic or racial groups known to have a higher carrier rate for a particular condition. Germline mutations: Mutations that are present in the DNA of every cell of the body, present from the moment of conception. These include cells in the gonads (testes or ova) and could therefore be passed on to offspring. Somatic mutations: Variations that occur with the passage of time, and are restricted to a specific cell or cells derived from it. If these variations are limited to cells that are not in the gonads, these variations will not be passed on to offspring. Pharmacogenomics: The study of how an individual s genetic makeup affects the body s response to drugs. Types of genetic tests addressed in this Protocol 1. Diagnostic testing for genetic or heritable mutations in a symptomatic individual. This refers to a molecular diagnosis defined by the presence of a known pathologic mutation. For the purposes of genetic testing, a symptomatic individual is defined as an individual with a clinical phenotype that is correlated with a known pathologic mutation. 2. Risk assessment for genetic and heritable mutations. a. Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, usually later in life. These tests can be used in individuals with a family history of a genetic disorder, but who themselves have no features of the disorder at the time of testing. Predictive testing can identify mutations that increase an individual s risk of developing disorders with a genetic basis, such as certain types of cancer or cardiovascular disease. Presymptomatic testing can determine whether a person will develop a genetic disorder, before any signs or symptoms appear, by determining whether an individual has a genetic mutation that may lead to development of the disease. b. Carrier testing is performed in an individual who may be at risk of passing on a mutation to their children. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. 3. Prognostic testing of diagnosed disease, to predict natural disease course, e.g., aggressiveness, recurrence, risk of death. This type of testing uses gene expression of affected tissue to predict the course of disease, e.g., testing breast cancer tissue with Oncotype DX. 4. Genetic variants that alter response to treatment or to an environmental factor a. Constitutional (germline) testing to detect genetic variants that alter risk of treatment response, adverse events, drug metabolism, drug effectiveness, etc., e.g., cytochrome p450 testing (also referred to as pharmacogenomics). b. Tissue specific or tumor testing: to detect mutations that predict response to a certain type of treatment (e.g., ALK mutation in non small cell lung cancer to predict response to crizotinib). c. Genetic mutations that adversely affect response to exposures in the environment that are ordinarily tolerated, such as G6PD deficiency, genetic disorders of immune function, and aminoacidopathies. Related Protocols: Analysis of Human DNA in Stool Samples as a Technique for Colorectal Cancer Screening Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer Page 2 of 8

3 BCR ALB1 Testing for Diagnosis, Monitoring, and Drug Resistance Mutation Detection in Chronic Myelogenous Leukemia (CML) Chromosomal Microarray (CMA) Analysis for the Genetic Evaluation of Patients with Developmental Delay/Intellectual Disability or Autism Spectrum Disorder Cytochrome p450 Genotyping DNA Based Testing for Adolescent Idiopathic Scoliosis Epidermal Growth Factor Receptor (EGFR) Mutation Analysis for Patients with Non Small Cell Lung Cancer (NSCLC) Gene Based Tests for Screening, Detection, and/or Management of Prostate Cancer Gene Expression Testing to Predict Coronary Artery Disease General Approach to Evaluating the Utility of Genetic Panels Genetic Cancer Susceptibility Panels using Next Generation Sequencing Genetic Testing for Alpha 1 Antitrypsin Deficiency Genetic Testing for Congenital Long QT Syndrome Genetic Testing for Duchenne and Becker Muscular Dystrophy Genetic Testing for Familial Alzheimer s Disease Genetic Testing for Familial Cutaneous Malignant Melanoma Genetic Testing for FMR1 Mutations (including Fragile X Syndrome) Genetic Testing for Hereditary Breast and/or Ovarian Cancer Genetic Testing for Hereditary Hemochromatosis Genetic Testing for Inherited Thrombophilia Genetic Testing for Lactase Insufficiency Genetic Testing for Lipoprotein(a) Variant(s) as a Decision Aid for Aspirin Treatment Genetic Testing for Long QT Syndrome Genetic Testing for Lynch Syndrome and Other Inherited Intestinal Polyposis Syndromes Genetic Testing for Predisposition to Inherited Hypertrophic Cardiomyopathy Genetic Testing for PTEN Hamartoma Tumor Syndrome Genetic Testing for Rett Syndrome Genetic Testing for Statin Induced Myopathy Genetic Testing for Tamoxifen Treatment Genetic Testing for the Diagnosis of Inherited Peripheral Neuropathies Genetic Testing for Warfarin Dose Genotyping for 9p21 Single Nucleotide Polymorphisms to Predict Risk of Cardiovascular Disease or Aneurysm KIF6 Genotyping for Predicting Cardiovascular Risk and/or Effectiveness of Statin Therapy KRAS and BRAF Mutation Analysis in Metastatic Colorectal Cancer Page 3 of 8

4 KRAS Mutation Analysis in Non Small Cell Lung Cancer Laboratory Tests for Heart Transplant Rejection Microarray Based Gene Expression Testing for Cancers of Unknown Primary Non BRCA Breast Cancer Risk Assessment (e.g., OncoVue) NOTCH3 Genotyping for Diagnosis of CADASIL Pharmacogenomic and Metabolite Markers for Patients Treated with Thiopurines Preimplantation Genetic Testing Sequencing based Tests to Determine Trisomy 21 from Maternal Plasma DNA Use of Common Genetic Variants to Predict Risk of Nonfamilial Breast Cancer Corporate Medical Guideline Genetic testing classified in one of the categories below may be considered medically necessary when all criteria are met for each category, as outlined in the Policy Guidelines section: Diagnostic testing Risk assessment Prognostic testing Genetic variants that alter response to treatment or to an environmental factor Genetic testing that does not meet the criteria for a specific category is considered investigational or not medically necessary, according to the standard definitions used for these terms (see Policy Guidelines). Genetic testing for other diseases such as but not limited to chronic fatigue, hyperhomocysteinemia, hereditary ataxia, or ADHD (attention deficit hyperactivity disorder) has not been proven to be medically effective and is considered investigational. Use of home testing kits is considered investigational. Policy Guideline Medical criteria Genetic testing is considered medically necessary for a genetic or heritable disorder when the following are met: 1. Diagnostic testing for genetic or heritable mutations of an affected individual an association of the marker with the disorder has been established AND symptoms of the disease are present AND a definitive diagnosis cannot be made based upon history, physical examination, pedigree analysis, standard diagnostic studies/tests AND the clinical utility of a diagnosis has been established, in that a definitive diagnosis will lead to changes in clinical management of the condition, changes in surveillance or changes in reproductive decision making, and the changes will lead to improved health outcomes AND establishing the diagnosis by genetic testing will end the clinical work up for other disorders Page 4 of 8

5 2. Risk assessment a. Predictive and presymptomatic: an association of the marker with future disorder has been established AND testing will lead to improved health outcomes based on prevention or early detection strategies b. Carrier testing 3. Prognostic testing an association of the marker with the disorder has been established AND the genetic disorder is associated with a potentially severe disability or has a lethal natural history AND the results of the test will have an impact on family planning an association of the marker with the natural history of the disease has been established AND the clinical utility of identifying the mutation has been established, in that it will lead to changes in clinical management of the condition or changes in surveillance 4. Genetic variants that alter response to treatment or to an environmental factor a. Constitutional (germline) testing: the association of the marker with a phenotype/metabolic state that relates to drug efficacy or adverse drug reactions has been established AND the results of the genetic test will impact clinical decision making and will be expected to result in improved clinical outcomes for the patient based upon drug selection or dosage b. Tissue specific or tumor testing: the association of a mutation with response to a particular drug has been established AND the patient is a candidate for targeted drug therapy which is associated with a specific mutation Genetic testing is considered investigational when the Technology Assessment Protocol criteria are not met, including when there is insufficient evidence to determine whether the technology improves health outcomes. Genetic testing is considered not medically necessary when: testing is not considered standard of care, such as the clinical diagnosis can be made without the use of a genetic test testing is not clinically appropriate for the patient s condition, for example, when it would not change diagnosis and/or management. Other situations where testing is not clinically appropriate include, but are not limited to: o o testing is performed entirely for non medical (e.g., social) reasons testing is not expected to provide a definitive diagnosis that would obviate the need for further testing testing is performed primarily for the convenience of the patient, physician or other health care provider testing would result in outcomes that are equivalent to outcomes using an alternative strategy, and the genetic test is more costly. Genetic counseling The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, most or all genetic testing for heritable conditions should be preceded by genetic counseling so that the patient understands whether genetic testing should be performed, or, if it is performed, what the potential impact of the information could be on the patient and on his or her family. Page 5 of 8

6 Limitations of genetic testing The testing methods may not detect all of the mutations that may occur in a gene Genetic testing may identify variants of unknown clinical significance Genetic testing may not necessarily determine the clinical outcome Different genes can cause the same disease (genetic heterogeneity) A mutation in a gene may cause different phenotypes (phenotypic heterogeneity) Some disease causing genes may not be identified as of yet Genetic testing is subject to laboratory error General principles of genetic tests The test should be cleared or approved by the U.S. Food and Drug Administration (FDA), or performed in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. Peer reviewed literature on the performance and indications for the test should be available. This evaluation of a genetic test focuses on three main principles: 1) analytic validity, which refers to the technical accuracy of the test in detecting a mutation that is present or in excluding a mutation that is absent; 2) clinical validity, which refers to the diagnostic performance of the test (sensitivity, specificity, positive and negative predictive values) in detecting clinical disease; and 3) clinical utility, i.e., how the results of the diagnostic test will be used to change management of the patient and whether these changes in management lead to clinically important improvements in health outcomes. The following hereditary conditions, but not limited to these, that may be medically necessary for genetic testing if they meet the criteria above (Note: additional hereditary conditions may be medically necessary, and those addressed in separate Protocols/policy are not included here): Achondroplasia (FGFR3) Albinism Angelman syndrome Amyotrophic lateral sclerosis (ALS) Canavan Disease Classical lissencephaly Congenital adrenal hyperplasia (CAH) Congenital amegakaryocytic thrombocytopenia Congenital profound deafness Crouzon syndrome Cystic fibrosis Dentatorubral pallidoluysian atrophy Dysferlin myopathy Dystonia Ehlers Danlos syndrome Fabry disease Factor XIII deficiency, congenital Familial hypocalciuric hypercalcemia Familial Mediterranean fever Fanconi anemia, group C Friedreich s ataxia Gaucher disease Gitelman s syndrome Hemoglobin S and/or C Hemophilia A and B Hemophilia A/VWF (F8[factor VIII]) Hereditary amyloidosis Hereditary pancreatitis++ Hereditary paraganglioma Hereditary spastic paraplegia 3 and 4 Huntington s disease Hypochondroplasia Jackson Weiss syndrome Kallmann syndrome Kennedy disease Leber hereditary optic neuropathy Leigh Syndrome and NARP Limb girdle muscular dystrophy Page 6 of 8

7 Marfan s syndrome McArdle disease Medium chain acyl coa dehydrogenase deficiency Medullary thyroid carcinoma MELAS Mucopolysaccharidoses type 1 Muenke syndrome Multiple endocrine neoplasia type 1 Myoclonic epilepsy Myotonic dystrophy Nephrotic syndrome, congenital Neurofibromatosis type 1 Neurofibromatosis Type 1 Like Syndrome Neurofibromatosis type 2 Neutropenia, congenital cyclic Niemann Pick Disease Oculopharyngeal muscular dystrophy Pfeiffer syndrome Phenylketonuria (PKU) Prader Willi/Angelman syndromes Pyruvate kinase deficiency Retinoblastoma Saethre Chotzen syndrome SHOX related short stature Sickle cell disease Smith Lemli Opitz syndrome Spinal muscular atrophy Spinocerebellar ataxia Thalassemias Thanatophoric dysplasia Tay Sacs Disease Von Hippel Lindau disease 22q11 deletion syndrome Benefit Application Medically necessary genetic testing performed on our member, regardless whether it benefits our member directly, is a potential benefit under our members contracts. Genetic testing provided on someone other than our member is the responsibility of the other person or their health insurance plan, regardless of the medical necessity of the testing. Medicare Advantage The above policy and policy guidelines content is applicable for Medicare Advantage for diagnostic testing, prognostic testing and testing for genetic variants that alter response to treatment or to an environmental factor which meet medically necessary criteria. Because Medicare generally only covers tests that are medically necessary for diagnosis and treatment, panels that are risk assessment testing may be considered not medically necessary. Services that are the subject of a clinical trial do not meet our Technology Assessment Protocol criteria and are considered investigational. For explanation of experimental and investigational, please refer to the Technology Assessment Protocol. It is expected that only appropriate and medically necessary services will be rendered. We reserve the right to conduct prepayment and postpayment reviews to assess the medical appropriateness of the above referenced procedures. Some of this Protocol may not pertain to the patients you provide care to, as it may relate to products that are not available in your geographic area. Page 7 of 8

8 References We are not responsible for the continuing viability of web site addresses that may be listed in any references below. 1. American College of Medical Genetics. Medical genetics: Translating Genes into Health. ContentID=6043 accessed 08/27/ U.S. National Library of Medicine, National Institutes of Health: accessed 08/27/ National Human Genome Research Institute conclusion on direct to customer genetic tests: 08/27/ Freitag CM et al. Genetics of Autism Disorder: Review and Implications. Eur Child Adolesc Psych 2010; 19: Available online at: Last accessed April Available online at: Last accessed April Teutsch SM, Bradley LA, Palomaki GE et al. The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP Working Group. Genet Med 2009; 11(1): National Coverage Determination (NCD) for Cytogenetic Studies (190.3), Effective Date of this Version 7/16/ Title XVIII of the Social Security Act, Section 1862(a)(1)(A), regarding coverage for items or services which are not reasonable and necessary for the diagnosis and treatment of illness or injury. Page 8 of 8

General Approach to Genetic Testing

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