Genetic Testing – Oncology Policy Number: Original Effective Date: MM.02.010 05/01/2010 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 02/01/2013 Section: Medicine Place(s) of Service: Outpatient I. Description A genetic test is the analysis of human DNA, RNA, chromosomes, proteins, or certain metabolites in order to detect alterations related to a heritable disorder. This can be accomplished by directly examining the DNA or RNA that makes up a gene (direct testing), looking at markers co-inherited with a disease-causing gene (linkage testing), assaying certain metabolites (biochemical testing), or examining the chromosomes (cytogenetic testing). For the purpose of this policy, first-degree relatives are defined as parents, full siblings, and offspring. Second-degree relatives are defined as grandparents, grandchildren, aunts, uncles, nephews, nieces, half-siblings and third-degree relatives are defined as great-grandparents, great- aunts, great-uncles, first cousins. II. Criteria/Guidelines A. Genetic testing is covered (subject to Limitations/Exclusions and Administrative Guidelines) when all of the following criteria are met: 1. There must be a reasonable expectation based on family history, pedigree analysis, risk factors, and/or symptomatology that a genetically inherited condition exists. 2. The genotypes to be detected by a genetic test must be shown by scientifically valid methods to be associated with the occurrence of the disease, and the analytical and clinical validity of the test must be established. 3. The clinical utility of the test must be established (e.g., test results will influence decisions concerning disease treatment or prevention). B. Genetic testing is covered (subject to Limitations/Exclusions and Administrative Guidelines) when the following criteria are met: 1. A positive or negative test will influence treatment decisions, course of treatment or medical management of the patient; or 2. Used to link genes with known cancer susceptibility. 3. Patient has a cancer or strong suspicion of cancer for the following conditions:
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Genetic Testing Oncology - Hawaii Medical Service AssociationGenetic Testing - Oncology 3 IV. Administrative Guidelines Precertification is not required. Documentation supporting the
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Genetic Testing – Oncology
Policy Number: Original Effective Date: MM.02.010 05/01/2010 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 02/01/2013 Section: Medicine Place(s) of Service: Outpatient
I. Description A genetic test is the analysis of human DNA, RNA, chromosomes, proteins, or certain metabolites in order to detect alterations related to a heritable disorder. This can be accomplished by directly examining the DNA or RNA that makes up a gene (direct testing), looking at markers co-inherited with a disease-causing gene (linkage testing), assaying certain metabolites (biochemical testing), or examining the chromosomes (cytogenetic testing).
For the purpose of this policy, first-degree relatives are defined as parents, full siblings, and offspring. Second-degree relatives are defined as grandparents, grandchildren, aunts, uncles, nephews, nieces, half-siblings and third-degree relatives are defined as great-grandparents, great-aunts, great-uncles, first cousins.
II. Criteria/Guidelines A. Genetic testing is covered (subject to Limitations/Exclusions and Administrative
Guidelines) when all of the following criteria are met: 1. There must be a reasonable expectation based on family history, pedigree analysis, risk
factors, and/or symptomatology that a genetically inherited condition exists. 2. The genotypes to be detected by a genetic test must be shown by scientifically valid
methods to be associated with the occurrence of the disease, and the analytical and clinical validity of the test must be established.
3. The clinical utility of the test must be established (e.g., test results will influence decisions concerning disease treatment or prevention).
B. Genetic testing is covered (subject to Limitations/Exclusions and Administrative Guidelines) when the following criteria are met: 1. A positive or negative test will influence treatment decisions, course of treatment or
medical management of the patient; or 2. Used to link genes with known cancer susceptibility. 3. Patient has a cancer or strong suspicion of cancer for the following conditions:
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a. Acute myeloid leukemia b. Acute promyelocytic leukemia c. Chronic lymphocytic leukemia d. Ewing's sarcoma e. Hereditary Diffuse Gastric Syndrome (CDH1 gene) f. Medullary thyroid carcinoma g. Multiple Myeloma h. Myelodysplastic syndrome i. Myeloproliferative neoplasms j. Non-Hodgkin's lymphoma k. Non-small cell lung cancer l. Small lymphocytic lymphoma m. Breast cancer (see policies for Oncotype DX and Genetic Testing for Hereditary Breast
and/or Ovarian Cancer) n. Lynch Syndrome/Colorectal Cancer (see policy for Genetic Testing for Lynch
Syndrome/Colorectal Cancer and Polyposis Syndromes)
III. Limitations/Exclusions A. Genetic testing is not covered for the following:
1. Family members of subscribers, who themselves are not subscribers 2. Members if the results of the genetic testing are for the benefit of family members who are
not covered by HMSA 3. In the absence of associated signs, symptoms or complaints 4. Home genetic testing is not covered. 5. Cytochrome P-450 with the exception of members being considered for treatment with
Plavix (see policy for Cytochrome p450 Genotyping). 6. Chemoresistance and chemosensitivity (e.g., ChemoFx) 7. UGT1A1 Molecular Assay (Invader) 8. Pathfinder (Genetic fingerprinting/DNA fingerprinting) and any other genetic expressing test
not supported by NCCN) 9. Detection of circulating tumor cells in the management of patients with cancer
B. Genetic counseling is not a covered benefit. C. For a known deleterious mutation, HMSA will only cover a targeted single site analysis genetic
test not a full analysis (i.e., testing for the mutation that has been identified in the family). D. Most genetic tests are performed once per life time but neuro-oncologic therapies may warrant
repeat testing and coverage based on current national clinical practices and guidelines. E. Laboratories that conduct genetic testing must be CLIA certified. F. Because of the rapidly evolving field of genetic testing, this policy does not address every
genetic test available. All other conditions not mentioned in this policy will be reviewed based on medical necessity and the policy criteria.
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IV. Administrative Guidelines Precertification is not required. Documentation supporting the medical necessity should be legible, maintained in the patient's medical record and must be made available to HMSA upon request. HMSA reserves the right to perform retrospective review using the above criteria to validate if services rendered met payment determination criteria.
ICD-9 Codes Description
151.9 Malignant neoplasm of stomach, unspecified site
162.2, 162.3. 162.4, 162.5, 162.8, 162.9
Malignant neoplasm of the lung
170.9 Malignant neoplasm of bone and articular cartilage, unspecified (Ewing's sarcoma)
193 Malignant neoplasm of thyroid gland
202.00 - 202.08 Small lymphocytic lymphoma
202.80 - 202.88 Non-Hodgkin's lymphoma
203.00 - 203.02 Multiple Myeloma
204.1 - 204.2 Lymphoid leukemia
205.0, 205.1, 205.2
Myeloid leukemia
205.00 - 205.02 Acute promyelocytic leukemia
234.8 Carcinoma in situ of other specified sites (includes thyroid gland)
238.71- 238.79 Other lymphatic and hematopoietic tissues
V10.61 Lymphoid leukemia
V10.62 Myeloid leukemia
V10.71 Lymphosarcoma and reticulosarcoma
V10.72 Hodgkin's disease
V10.79 Other lymphatic and hematopoietic neoplasms
V10.87 Personal history of malignant neoplasm of thyroid
Applicable codes for services rendered prior to January 1, 2013:
CPT Codes Description
83890 Molecular diagnostics; molecular isolation or extraction
83891 isolation or extraction of highly purified nucleic acid
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83892 enzymatic digestion
83893 dot/slot blot production
83894 separation by gel electrophoresis (e.g., agarose, polyacrylamide)
83896 nucleic acid probe, each
83897 nucleic acid transfer (e.g., Southern, Northern)
83898 amplification of patient nucleic acid (e.g., PCR, LCR), single primer pair, each primer pair
83900 Molecular diagnostics; amplification, target, multiplex, first two nucleic acid sequences
83901 amplification of patient nucleic acid, multiplex, each multiplex reaction
83902 Reverse transcription
83903 mutation scanning, by physical properties (e.g., single strand conformational polymorphisms (SSCP), heteroduplex, denaturing gradient gel electrophoresis (DGGE), RNA'ase A), single segment, each
83904 mutation identification by sequencing, single segment, each segment
83905 mutation identification by allele specific transcription, single segment, each segment
83906 mutation identification by allele specific translation, single segment, each segment
83907 Molecular diagnostics; lysis of cells prior to nucleic acid extraction (eg, stool specimens, paraffin embedded tissue), each specimen
83908 Molecular diagnostics; amplification, signal, each nucleic acid sequence
83909 Molecular diagnostics; separation and identification by high resolution technique (eg, capillary electrophoresis), each nucleic acid preparation
83912 interpretation and report
83913 RNA stabilization
83914 Mutation identification by enzymatic ligation or primer extension, single segment, each segment (eg, oligonucleotide ligation assay [OLA], single base chain extension [SBCE], or allele-specific primer extension [ASPE])
88230 Tissue culture for non-neoplastic disorders; lymphocyte
88233 skin or other solid tissue biopsy
88237 Tissue culture for neoplastic disorders; bone marrow, blood cells
88240 Cryopreservation, freezing and storage of cells, each cell line
88241 Thawing and expansion of frozen cells, each aliquot
86152 Cell enumeration using immunologic selection and identification in fluid specimen (eg, circulating tumor cells in blood);
86153 Cell enumeration using immunologic selection and identification in fluid specimen (eg, circulating tumor cells in blood); physician interpretation and report, when required
Modifiers (These are listed for information purposes only)
C94.40 Acute panmyelosis with myelofibrosis not having achieved remission
C94.41 Acute panmyelosis with myelofibrosis, in remission
C94.42 Acute panmyelosis with myelofibrosis, in relapse
D47.1 Chronic myeloproliferative disease
D47.9 Neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue, unspecified
D47.Z9 Other specified neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue
Z85.6 Personal history of leukemia
Z85.6 Personal history of leukemia
Z85.71 Personal history of Hodgkin lymphoma
Z85.79 Personal history of other malignant neoplasms of lymphoid, hematopoietic and related tissues
Z85.831 Personal history of malignant neoplasm of soft tissue
Z85.850 Personal history of malignant neoplasm of thyroid
Z80.8 Family history of malignant neoplasm of other organs or systems
V. Scientific Background
Many genetic tests are imperfect predictors of either existing disease or disease susceptibility, particularly when used in the context of population screening, where individuals without family histories of disease, risk factors or symptoms are tested. For example, the probability exists that a disease may still occur, even when a negative test result is obtained. Conversely, a specific disease may not occur when there is a positive test result. While these concepts hold true for at-risk individuals as well, the probability of both these occurrences is greater in population
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screening, so test results are more difficult to interpret in a manner that will meaningfully affect health outcomes. With a few limited exceptions (e.g., PKU testing), general screening of populations for diseases that can be attributed to genetic mutations is not advocated in the published scientific literature.
The genotypes to be detected by a genetic test must be shown by scientifically valid methods to be associated with the occurrence of the disease, and the analytical and clinical validity of the test must be established. Analytical validity Analytical validity is an indicator of how well a test measures the property or characteristic it is intended to measure, and it is made up of three components Analytical sensitivity: the test is positive when the relevant gene mutation is present. Analytical specificity: the test is negative when the gene mutation is absent and reliability: the test obtains the same result each time. Clinical Validity Clinical validity in genetic testing is a measurement of the accuracy with which a test identifies or predicts a clinical condition and involves the following:
a. Clinical sensitivity: the probability that the test is positive if the individual being tested actually has the disease or a predisposition to the disease.
b. Clinical specificity: the probability that the test is negative if the individual does not have the disease or a predisposition to the disease.
c. Positive predictive value: the probability that an individual with positive test results will get the disease.
d. Negative predictive value: the probability that an individual with negative test results will not get the disease.
e. Heterogeneity: different mutations within the same gene may cause the same disease and can result in different degrees of disease severity; a failure to detect all disease-related mutations reduces a test's clinical sensitivity.
f. Penetrance: the probability that the disease will appear when a disease-related genotype is present. Penetrance is incomplete when other genetic or environmental factors must be present for a disease to develop.
There are both benefits and risks associated with genetic tests. Genetic tests that are not fully assessed for analytical and clinical validity prior to their use in clinical practice have the potential for causing harm to patients. For example, patients who are wrongly classified as at-risk may be subjected to increased and unnecessary surveillance or treatments, some of which may be harmful, or even irreversible. Likewise, false negative test results may lead to delays in diagnosis and treatment.
The development of genetic tests that can diagnose or predict disease occurrence has far outpaced the development of interventions to treat, ameliorate or prevent those same diseases. Clinical utility refers to the ability of genetic test results, either positive or negative, to provide information that is of value in the clinical setting. Specifically for positive test results,
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this could involve instituting treatments or surveillance measures, making decisions concerning future conception, or avoiding harmful treatments. Negative test results can have clinical utility in that unnecessary treatments or surveillance can be avoided. In the absence of such interventions, the benefits of testing are limited, and in fact, can cause psychological harm.
VI. Important Reminder
The purpose of this Medical Policy is to provide a guide to coverage. This Medical Policy is not intended to dictate to providers how to practice medicine. Nothing in this Medical Policy is intended to discourage or prohibit providing other medical advice or treatment deemed appropriate by the treating physician. Benefit determinations are subject to applicable member contract language. To the extent there are any conflicts between these guidelines and the contract language, the contract language will control. This Medical Policy has been developed through consideration of the medical necessity criteria under Hawaii’s Patients’ Bill of Rights and Responsibilities Act (Hawaii Revised Statutes §432E-1.4), generally accepted standards of medical practice and review of medical literature and government approval status. HMSA has determined that services not covered under this Medical Policy will not be medically necessary under Hawaii law in most cases. If a treating physician disagrees with HMSA’s determination as to medical necessity in a given case, the physician may request that HMSA consider the application of this Medical Policy to the case at issue.
VII. References
1. ASCO Policy Statement Update: Genetic Testing for Cancer susceptibility. June 15, 2003. Journal of Clinical Oncology. 21(12): 2397-2406.
2. Blue Cross Blue Shield – Regence #20, Genetic and Molecular Diagnostic Testing. December 2011.
3. Ford, JM. Inherited susceptibility to gastric cancer: Advances in genetics and guidelines for clinical management. ASCO Educational Sessions: pp. 116 - 125 (2002).
4. Hereditary Diffuse Gastric Cancer Syndrome (CDH1). Stanford Medicine: A National Cancer Institute Designated Cancer Center. Available at: http://cancer.stanford.edu/patient_care/services/geneticCounseling/HDGC.html
5. Update of Horizon scans of genetic tests currently available for clinical use in cancer. AHRQ Technology Assessment Program. Final Report April 15, 2011.
6. Secretary's Advisory Committee on Genetic Testing. A public consultation on oversight of genetic tests. December 1, 1999 - January 31, 2000. National Institutes of Health. Accessed on November 30, 2011. http://oba.od.nih.gov/oba/sacgt/reports/Public%20Consultation%20Summary.pdf.