| Highmark Commercial Medical Policy - Pennsylvania |
| Medical Policy: | L-34-042 |
| Topic: | Genetic Testing |
| Section: | Laboratory |
| Effective Date: | February 1, 2016 |
| Issue Date: | February 1, 2016 |
| Last Reviewed: | October 2015 |
Genetic testing involves the analysis of chromosomes, deoxyribonucleic acid (DNA), ribonucleic acid (RNA), genes or gene products to detect inherited (germline) or non-inherited (somatic) genetic variants related to disease or health. |
This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.
| Policy Position Coverage is subject to the specific terms of the member’s benefit plan. |
The following testing may be considered medically necessary for symptomatic patients. The testing may be considered medically necessary for asymptomatic patients when the patient's contract covers genetic screening. This is not an all-inclusive list.
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Genetic testing for ARVC may be considered medically necessary for patients who meet the following criteria for Class I of the Heart Rhythm Society and the European Heart Rhythm Association recommendations: The following Class II indications may be considered medically necessary strictly on a case by case basis:
Ashkenazi Jewish Ancestry: Genetic Testing for Prenatal and Pre-conceptual Carrier Screening
Genetic testing for prenatal and pre-conceptual carrier screening is considered medically necessary for individuals of Ashkenazi Jewish ancestry in accordance with the American College of Medical Genetics (ACMG) guidelines as follows:
Brugada
Genetic testing for Brugada may be considered medically necessary for patients who meet the following criteria for Class I of the Heart Rhythm Society and the European Heart Rhythm Association recommendations:
The following Class II indication may be considered medically necessary strictly on a case by case basis:
Comprehensive or BrS1 (SCN5A) targeted BrS genetic testing for any patient in whom a cardiologist has established a clinical index of suspicion for BrS based on examination of the patient’s clinical history, family history and expressed electrocardiographic (resting 12-lead ECGs and/or provocative drug challenge resting) phenotype.
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Genetic testing for CPVT may be considered medically necessary for patients who meet EITHER of the following criteria for Class I of the Heart Rhythm Society and the European Heart Rhythm Association recommendations:
Genetic testing for CPVT may be considered medically necessary for patients who do not meet the clinical criteria for CPVT but who have:
Genetic testing for CPVT is considered experimental/investigational for all other situations when criteria are not met and therefore non-covered due to lack of scientific-based evidence.
Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy (CADASIL) Syndrome
Genetic testing to confirm the diagnosis of CADASIL syndrome may be considered medically necessary when BOTH of the following conditions are met:
Genetic testing for CADASIL syndrome in all other situations, including but not limited to testing of asymptomatic patients who have a first or second-degree relative with CADASIL, is considered experimental/investigational, and therefore non-covered due to lack scientific-based evidence.
Developmental Delay/Intellectual Disability (DD/ID), Autism Spectrum Disorder (ASD) and/or Congenital Anomalies
Chromosomal microarray analysis may be considered medically necessary as first-line testing in the initial postnatal evaluation of individuals with ONE of the following:
Chromosomal microarray analysis is considered experimental/investigational in all other cases of suspected genetic abnormality in children with DD/ID or ASD. The evidence is insufficient to determine the effects of the technology on health outcomes.
Panel testing using next-generation gene sequencing is considered experimental/investigational in all cases of suspected genetic abnormality in children with developmental delay/intellectual disability, autism spectrum disorder, or congenital anomalies. The evidence is insufficient to determine the effects of the technology on health outcomes.
Fanconi Anemia
Genetic testing for the diagnosis of Fanconi anemia may be considered medically necessary when BOTH of the following criteria are met:
Genetic testing for the diagnosis of Fanconi anemia is considered not medically necessary when the above criteria are not met.
Genetic testing of asymptomatic individuals to determine future risk of disease may be considered medically necessary when:
Carrier testing (preconception and/or prenatal) for Fanconi anemia may be considered medically necessary when ANY ONE of the following criteria is met:
Preimplantation genetic testing for Fanconi anemia as an adjunct to in vitro fertilization may be considered medically necessary when EITHER of the following conditions is met:
Fetal testing (in utero) for Fanconi anemia may be considered medically necessary when EITHER of the following conditions is met:
FMR1 Mutations (Including Fragile X Syndrome)
Genetic testing for FMR1 mutations may be considered medically necessary for ANY ONE of the following patient populations:
For all other uses, genetic testing for FMR1 mutations is considered experimental/investigational and therefore non-covered due to lack of scientific-based evidence.
Hereditary Pancreatitis
Genetic testing for hereditary pancreatitis may be considered medically necessary for patients aged 18 years and younger with unexplained recurrent (greater than 1 episode) acute or chronic pancreatitis with documented elevated amylase or lipase.
In all other situations, genetic testing for hereditary pancreatitis is considered experimental/investigational and therefore non-covered due to lack of scientific-based evidence.
Hypertrophic Cardiomyopathy (HCM)
Genetic testing for predisposition to HCM may be considered medically necessary for individuals who are:
Genetic testing for predisposition to HCM is considered not medically necessary for patients with a family history of HCM in which a first-degree relative has tested negative for pathologic mutations.
For all other patient populations, including but not limited to individuals who have a first-degree relative with clinical HCM, but in whom genetic testing is unavailable, genetic testing for predisposition to HCM is considered experimental/investigational and therefore non-covered due to lack of scientific-based evidence.
Long QT Syndrome (LQTS)
Genetic testing (e.g., the Familion® test) may be considered medically necessary in patients with suspected congenital long QT syndrome when ANY ONE of the following clinical criteria is met:
Genetic testing in patients with suspected congenital long QT syndrome (LQTS) may be considered medically necessary for the following indications:
Determining the pretest probability of LQTS is not standardized. An example of a patient with a moderate-to-high pretest probability of LQTS is a patient with a Schwartz score of 2 or 3.
The clinical utility of genetic testing for LQTS is high when there is a moderate-to-high pretest probability and when the diagnosis cannot be made with certainty by other methods. A definitive diagnosis of either channelopathy leads to treatment with ß-blockers in most cases, and sometimes to treatment with an implantable cardiac defibrillator (ICD). As a result, confirming the diagnosis is likely to lead to a health outcome benefit by reducing the risk for ventricular arrhythmias and sudden cardiac death. The clinical utility of testing is also high for close relatives of patients with known cardiac ion channel mutations, because these individuals should also be treated if they are found to have a pathologic mutation.
Please refer to the Table Attachment for Schwartz Diagnostic Criteria for LQTS.
Genetic testing for LQTS is considered experimental/investigational for all other situations when criteria are not met and therefore non-covered due to lack of scientific-based evidence.
Marfan syndrome, Thoracic Aortic Aneurysms and Dissections and Related Disorders
Genetic testing for Marfan syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders may be considered medically necessary when EITHER of the following indications is met:
In all other situations, genetic testing for Marfan syndrome is considered experimental/investigational and therefore non-covered due to lack of scientific-based evidence.
Newborn Child Testing (HB 1654, Act 148 of 2014)
The following screening tests are covered for newborn children:
Phosphatase and Tensin Homolog (PTEN) Mutation
Genetic testing for a PTEN mutation may be considered medically necessary for EITHER of the following:
For all other indications, genetic testing for a PTEN mutation is considered experimental/investigational and therefore non-covered due to lack of scientific-based evidence.
Tumor Protein P53 (TP53) mutations
Genetic testing for TP53 mutations may be considered medically necessary for ANY ONE of the following indications:
Genetic testing for a germline TP53 mutation is considered not medically necessary for all other indications.
Genetic testing performed on patients with no current evidence or manifestation of genetic disease (i.e., asymptomatic) is considered genetic screening and is non-covered except for those groups/programs that specifically identify coverage in benefits. This includes genetic testing performed to determine susceptibility or predisposition to diseases such as cancer and heart disease and genetic testing for carrier identification to determine if a person is a carrier of an abnormal gene.
Genetic testing is a complex process. The results depend on reliable laboratory procedures and accurate interpretation of results. When no code exists, molecular diagnostic testing codes and cytogenetic testing may be reported for genetic testing. Different combinations of the codes may be reported depending on the clinical circumstances. In some cases, certain codes may be reported multiple times.
Genetic counseling is generally provided in conjunction with genetic testing. Counseling usually occurs when the results of the tests are provided to the patient and intervention strategies are discussed. Coverage for genetic counseling is determined according to individual or group customer benefits. When genetic testing is non-covered, the counseling performed in conjunction with the testing is also non-covered.
Experimental and Investigational Genetic Tests These tests are considered experimental/investigational due to lack of scientific-based evidence and/or lack of clinical trials available in the published peer-reviewed literature.
Please refer to the following Medical Policy Bulletins for additional information:
| Place of Service: Outpatient |
Genetic Testing is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.
| The policy position applies to all commercial lines of business |
| FEP Guidelines |
This medical policy may not apply to FEP. Medical policy is not an authorization, certification, explanation of benefits or a contract. Benefits are determined by the Federal Employee Program. |
| Denial Statements |
Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.
Services that do not meet the criteria of this policy will be considered experimental/investigational (E/I). A network provider can bill the member for the experimental/investigational service. The provider must give advance written notice informing the member that the service has been deemed E/I. The member must be provided with an estimate of the cost and the member must agree in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.
A network provider can bill the member for the non-covered service.
| Links |
10/2015, Criteria Revised for Genetic Testing