Anthem Blue Cross Connecticut CG-GENE-13 Genetic Testing for Inherited Diseases Form

This document addresses testing for certain diseases with an established genetic basis. It includes testing of individual genes for individuals at risk and preconception or prenatal genetic testing of a prospective parent or parent to determine carrier status for an autosomal recessive disorder, an x-linked disorder, a disorder with variable penetrance, or to confirm the diagnosis of a disorder when genetic testing may lead to changes in clinical management for those with uncertain clinical features.

Notes:

• Genetic counseling should be a component of a decision to perform genetic testing.
• This document only addresses molecular genetic testing and does not provide criteria for karyotype analysis or biochemical testing.
• This document does not address whole exome or whole genome testing or testing of 5 or more genes as a panel.
• This document does not address panel testing. Please refer to: 
  • GENE.00052 Whole Genome Sequencing, Whole Exome Sequencing, Gene Panels, and Molecular Profiling
• When another document exists that addresses a specific condition or genetic test, that document supersedes this one. 
• Other related documents include:
  • CG-GENE-14 Gene Mutation Testing for Cancer Susceptibility and Management
  • CG-GENE-15 Genetic Testing for Lynch Syndrome, Familial Adenomatous Polyposis (FAP), Attenuated FAP and MYH-associated Polyposis
  • CG-GENE-16 BRCA Genetic Testing
  • CG-GENE-21 Cell-Free Fetal DNA-Based Prenatal Testing
  • CG-MED-88 Preimplantation Embryo Biopsy and Genetic Testing

Clinical Indications

Medically Necessary:

Testing of individual genes for germline genetic diseases is considered medically necessary when all the criteria for the individual to be tested and for the genetic disorder being tested for (both Criteria A and B) are met:

1. Requirements for the individual:
    The individual to be tested:
   1. Is either at significant risk for a genetic disease (for example, based on family history) or suspected to have a known genetic disease; and
   2. Has received genetic counseling encompassing all of the following components:
      1. Interpretation of family and medical histories to assess the probability of disease occurrence or recurrence; and
      2. Education about inheritance, genetic testing, disease management, prevention and resources; and
      3. Counseling to promote informed choices and adaptation to the risk or presence of a genetic condition;    and
      4. Counseling for the psychological aspects of genetic testing.
         and
2. Requirements for the genetic disorder(s) being tested for:
   1. A specific mutation, or set of mutations, has been established in the scientific literature to be reliably associated with the disease; and
   2. A biochemical or other test is identified but the results are indeterminate, or the genetic disorder cannot be identified through biochemical or other testing; and
   3. The genetic disorder is associated with a potentially significant disability or has a lethal natural history; and
   4. A positive or negative result of the genetic test will impact the clinical management (predictive, diagnostic, prognostic or therapeutic*) of the individual.  For example, genetic test results will guide treatment decisions, surveillance recommendations or preventive strategies; and
   5. The findings of the genetic test will likely result in improvement in net health outcomes; that is, the expected health benefits of the interventions outweigh any harmful effects (medical or psychological) of the intervention.

*Note:  See the Definitions section for information about predictive, diagnostic, prognostic and therapeutic genetic testing.

 Preconception or prenatal genetic screening of a parent or prospective parent to determine carrier status of germline genetic disorders is considered medically necessary when criteria for family history and for the specific genetic test (both Criteria C and D) are met:

3. Criteria based on family history:
   Genetic screening of the parent or prospective parent is considered medically necessary when one of the following criteria is met:
   1. An affected child is identified with either an autosomal recessive disorder, an x-linked disorder, or an inherited disorder with variable penetrance and genetic testing is performed to determine the pattern of inheritance and to guide subsequent reproductive decisions; or
   2. One or both parents or prospective parent(s) have a first or a second degree relative who is affected with (or one parent or prospective parent is a known carrier of) either an autosomal recessive disorder, an x-linked disorder, or an inherited disorder with variable penetrance and genetic testing is performed to determine the pattern of inheritance and to guide subsequent reproductive decisions; or
   3. The parent or prospective parent is at high risk for a genetic disorder with a late onset presentation, and genetic testing is performed to determine carrier status and to guide subsequent reproductive decisions; or
   4. The parent or prospective parent is a member of an ethnic group with a high risk of a specific genetic disorder with an autosomal recessive pattern of inheritance and genetic testing is performed to determine carrier status and to guide subsequent reproductive decisions, including but not limited to Tay-Sach’s disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann Pick Disease Type A, Fanconi anemia group C, Bloom syndrome or Gaucher disease.
      and
4. Criteria for Specific Genetic Test:
   In the parent or prospective parent who meets one of the applicable criteria above, specific genetic testing is considered medically necessary when all of the following criteria are met:
   1. A specific mutation, or set of mutations, has been established in the scientific literature to be reliably associated with the disease; and
   2. A biochemical or other test is identified but the results are indeterminate, or the genetic disorder cannot be identified through biochemical or other testing; and
   3. The genetic disorder is associated with a potentially severe disability or has a lethal natural history; and
   4. Genetic counseling, which encompasses all of the following components, has been performed:
      1. Interpretation of family and medical histories to assess the probability of disease occurrence or recurrence; and
      2. Education about inheritance, genetic testing, disease management, prevention and resources; and
      3. Counseling to promote informed choices and adaptation to the risk or presence of a genetic condition; and
      4. Counseling for the psychological aspects of genetic testing.

Preconception or prenatal genetic screening of a parent or prospective parent to determine carrier status for the following conditions is considered medically necessary:

1. Cystic fibrosis, common variants (the current standard includes 23 of the more common gene mutations);
2. Spinal muscular atrophy.

Not Medically Necessary:

Genetic testing of individual genes for germline genetic diseases in individuals not meeting the above criteria is considered not medically necessary, including, but not limited to, genetic testing for melanoma (hereditary), amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease) and ataxia telangiectasia.

Preconception or prenatal genetic testing of a parent or prospective parent for germline genetic medical disorders that do not meet the above criteria, including but not limited, to amyotrophic lateral sclerosis (ALS, Lou Gehrig’s disease) is considered not medically necessary.  

Preconception or prenatal genetic screening of a parent or prospective parent to determine carrier status for cystic fibrosis, using any of the following is considered not medically necessary:

1. Complete DNA sequencing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene;
2. Gene analysis of known CFTR familial variants;
3. Gene analysis of CFTR duplication/deletion variants.