This document addresses diagnostic genetic testing of a potentially affected individual (adult or child).

Note(s): 

• This document is limited to the use of molecular genetic testing and does not provide criteria for karyotype analysis or biochemical testing.
• Please refer to the following documents for additional information on genetic testing:
  • GENE.00001 - Genetic Testing for Cancer Susceptibility;
  • GENE.00003 - Genetic Testing and Biochemical Markers for the Diagnosis of Alzheimer's Disease;
  • GENE.00007 - Cardiac Ion Channel Genetic Testing;
  • GENE.00012 - Preconceptional or Prenatal Genetic Testing of a Parent or Prospective Parent;
  • GENE.00015 - Predictive Genetic Testing for Non-Malignant Diseases.

Medically Necessary:

Genetic testing is considered medically necessary for diagnostic purposes in individuals with symptoms of a genetic disorder or individuals who are at risk for a late onset genetic disorder or slowly evolving genetic disorder who meet ALL of the following criteria:

• A specific mutation, or set of mutations, has been established in the scientific literature to be reliably associated with the disease; and
• 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
• The results of the genetic test could impact the medical management of the individual with a resulting improvement in health outcomes; and
• Testing is accompanied by genetic counseling.

Note: Attachment A is a medical review worksheet that providers may use to provide clinical information with pre-authorization requests; use of this form is optional.

Investigational and Not Medically Necessary: 

Genetic testing for diagnostic purposes in individuals not meeting the above criteria is considered investigational and not medically necessary, including, but not limited to, melanoma (hereditary), amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease) or ataxia telangiectasia.

Diagnosis of a genetic disorder in individuals with suggestive symptoms can typically be made using biochemical testing.  However, in limited situations, genetic testing may be used to provide a definitive diagnosis in conjunction with clinical signs and symptoms.  Because of the rapidly evolving field of genetic testing, each genetic test must be carefully evaluated to determine whether or not the identified genetic mutations reliably identify a genetic disorder, resulting in the initiation of effective therapy.

There has been a surge of interest in the genetic mutation responsible for ALS.  Researchers have identified several possible causes of ALS including, but not limited to mutations in the gene that produces the superoxide dismutase (SOD1) enzyme.  While genetic tests are available to identify mutations in the SOD1 gene, because there is no effective treatment or cure and ALS is still at this time a fatal disease, it is not clear how the results of such testing would improve the care or outcome of the affected individual.  

Biochemical tests or other common laboratory tests or imaging procedures are typically adequate to diagnose a genetic disorder in symptomatic individuals; therefore, genetic testing plays only a small role in this setting.  Additionally, there may be doubt in many cases that identification of genetic mutations identified with a specific disease will result in improved care.  While a wide array of genetic medical conditions may be effectively treated or managed, many conditions have no known effective medical recourse.  In these instances, there is very little evidence to demonstrate that the added information provided by genetic testing has any significant impact on individual care or outcomes.  Conditions that fit into this category include ataxia telangiectasia, ALS, and Alzheimer's disease, among others.  In the case of Alzheimer's disease specifically, several genetic alleles have been identified and have commercially available tests to identify them.  Unfortunately, identification of these genes in a person's body does not allow improved prevention, care or management of their condition.  

Amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease): A progressive neurodegenerative disorder that affects nerve cells in the spinal cord and brain which eventually results in paralysis and death.

Ataxia telangiectasia: A rare, progressive, neurodegenerative childhood disease that affects the brain and other body systems.

First-degree relative: Any relative who is a parent, sibling, or offspring to another.

Genetic counseling: A process involving the guidance of a specially trained professional in the evaluation of family history, medical records, and genetic test results, in assessing the risk of genetic diseases, understanding the ramifications of diagnosis, and explanation of available treatment options available.

Genetic molecular testing: A type of test that is used to determine the presence or absence of a specific gene or set of genes to help diagnose a disease, screen for specific health conditions, and for other purposes.

Mutation: A change in DNA sequence.

Second-degree relative: Any relative who is a grandparent, grandchild, uncle, aunt, niece, nephew, or half-sibling to another.

The following codes for treatments and procedures applicable to this document are included below for informational purposes.  Inclusion or exclusion of a procedure, diagnosis or device code(s) does not constitute or imply member coverage or provider reimbursement policy.  Please refer to the member's contract benefits in effect at the time of service to determine coverage or non-coverage of these services as it applies to an individual member.

When services are Medically Necessary:

When services are Investigational and Not Medically Necessary:
For the procedure codes listed above, for the following diagnoses:

 When services are also Investigational and Not Medically Necessary:

Future ICD-10 coding (effective 10/01/2013)
A draft of ICD-10 Coding related to this document, as it might look today, is available for reference and comments at: Appendix 1: Future ICD-10 coding

Peer Reviewed Publications:

1. Weinstein LB. Selected genetic disorders affecting Ashkenazi Jewish families. Fam Community Health. 2007; 30(1):50-62.

Government Agency, Medical Society, and Other Authoritative Publications:

1. National Library of Medicine (NLM). Genetic Conditions: Amyotrophic lateral sclerosis. Reviewed August 2007. Available at: http://ghr.nlm.nih.gov/condition=amyotrophiclateralsclerosis  Accessed on January 7, 2011.
2. National Library of Medicine (NLM). Genetic Conditions: Ataxia-telangiectasia. Reviewed June 2008. Available at: http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia  Accessed on January 7, 2011.
3. National Library of Medicine (NLM). Genetics Home Reference: Available at: http://ghr.nlm.nih.gov/ghr/glossary  Accessed on January 7, 2011.

Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease)
Ataxia telangiectasia
Melanoma (hereditary)

  ATTACHMENT A                 Note: this form is provided as a guide for collection of information only        

Molecular Genetic Testing of a Potentially Affected Individual (Adult or Child)

Medical Review Sheet (use of this form is optional; please submit with pre-authorization request)

Member Name:______________________________ 
Requesting Physician:_________________________________
Subscriber Number:­­­­­­­­­­­­_________________________  
Office Telephone Number:_____________________________

1. Condition for which molecular genetic testing is being requested__________________________________
2. Regarding the genetic test, has it been established in the scientific literature to be reliably associated with the disease?                       
   Yes_____                    No_____
3. Is this genetic condition reliably identifiable in this member via other types of biochemical testing apart from molecular genetic testing (enzyme activity assays, hemoglobin electrophoresis, blood chemistries, etc.) combined with overall clinical assessment of the member?
   Yes_____        No (no tests available)_____    
   No (biochemical / clinical data inconclusive thus far)_____
4. Could the results of the genetic test impact the medical management of this member in terms of a likely improvement in health outcomes?                      
   Yes_____        No_____  (If yes, please specify):___________________________________
5. Will genetic testing be accompanied by genetic counseling?         
   Yes_____                    No_____

I do attest that the above is true and accurate to the best of my knowledge

__________________________________________________________________________________________

Print Name                                           Signature                                                                      Date