This document addresses preconceptional or prenatal genetic testing on a parent or prospective parent to determine carrier status of an autosomal recessive disorder, or a disorder with a variable penetrance.  The testing is typically done prior to pregnancy to guide reproductive decisions.

Note:

• This document is limited to the use molecular genetic testing and does not provide criteria for karyotype analysis or biochemical testing.
• Preimplantation genetic diagnosis, which consists of genetic testing of an embryo as part of an assisted reproductive procedure, is addressed in GENE.00002 Preimplantation Genetic Diagnosis Testing.

Medically Necessary:

Preconceptional or prenatal genetic testing of a parent or prospective parent to determine carrier status of cystic fibrosis is considered medically necessary.  

Preconceptional or prenatal genetic testing of a parent or prospective parent to determine carrier status of other inherited disorders is considered medically necessary when BOTH sets (#1 and #2) of the following criteria are met:

1.      Criteria based on family history
Genetic testing of the parents or prospective parents is considered medically necessary when ONE of the following criteria is met.

• 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
• One or both parents or prospective parent(s) have another first or a second degree relative who is affected, or the first degree relative has an affected child, 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
• 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
• The parents or prospective parents are members 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, mucolipidosis IV, Nieman Pick Disease Type A, Fanconi anemia group C, Bloom syndrome or Gaucher's disease.

2.      Criteria for Specific Genetic Test
In parents or prospective parents who meet one of the applicable criteria above, specific genetic testing is considered medically necessary when ALL of the following criteria are met:

• A specific mutation, or set of mutations, has been established in the scientific literature to be reliably associated with the disease;
• The genetic disorder is associated with a potentially severe disability or has a lethal natural history;
• A biochemical or other test is identified but the results are indeterminate, or the genetic disorder cannot be identified through biochemical or other testing;
• 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 inherited medical disorders including but not limited to amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease), that do not meet the above criteria is considered investigational and not medically necessary.  

Preconceptional or prenatal genetic testing of a parent or prospective parent is a common practice to determine carrier status.  For example, due to the high prevalence of carriers of cystic fibrosis, the American College of Obstetrics and Gynecology (ACOG) recommends that OB/GYNs make DNA screening for cystic fibrosis available to all couples seeking preconception or prenatal care regardless of personal or family history for the disease or carrier status.  In addition, ACOG recommends carrier screening for Tay-Sach's disease, Canavan disease, mucolipidosis IV, Nieman Pick Disease Type A, Fanconi anemia group C, Bloom syndrome and Gaucher's disease among individuals of Ashkenazi Jewish descent.  

There has also been a growing interest in the use of genetic testing for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.  ALS is a progressive neurodegenerative disorder that affects nerve cells in the spinal cord and brain which eventually results in paralysis and death.  The gene mutation associated with ALS is autosomal dominant and as such, does not meet the medically necessary criteria set forth for prenatal genetic testing.

Preconceptional or prenatal genetic testing of a parent or prospective parent is an accepted practice to determine carrier status. There are a growing number of diseases for which a genetic basis has been identified, including but not limited to amyotrophic lateral sclerosis, (ALS, Lou Gehrig's disease).  

Amyotrophic lateral sclerosis (ALS, 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.

Ashkenazi Jewish: A term for people of eastern European Jewish heritage.

Cystic fibrosis (CF): An inherited disease that affects the mucus and sweat glands of the body; thick mucus is formed in the breathing passages of the lungs that predisposes the person to chronic lung infections.

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 also Medically Necessary:

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

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. American College of Obstetricians and Gynecologists (ACOG). ACOG Committee on Genetics. ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individual of Eastern European Jewish descent. Obstet Gynecol. 2004; 104:425-428.
2. National Library of Medicine (NLM). Genetics Home Reference. Available at: http://ghr.nlm.nih.gov/ghr/glossary. Accessed on January 7, 2011.

Bloom Syndrome
Canavan Disease
Fanconi Anemia Group C
Gaucher's Disease
Genetic Testing, Preconceptional or Prenatal
Mucolipidosis IV
Nieman Pick Disease Type A
Tay-Sach's Disease 

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

Preconceptional or Prenatal Molecular Genetic Testing for a Parent or Prospective Parent

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. Family history criteria present with regard to this member (please check at least one of the following that must apply):
   _____  An affected offspring 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
   _____One or both parents or prospective parent(s) have another first or a second degree relative who is affected, or the first degree relative has an affected child 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
   _____  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
   _____  The parents or prospective parents are members 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, mucolipidosis IV, Nieman Pick Disease Type A, Fanconi anemia group C, Bloom syndrome or Gaucher's disease.
2. Regarding the genetic condition, is there a reasonable possibility of a late onset or slowly evolving clinical presentation?
   Yes_____                    No_____
3. Regarding the genetic test, has it been established in the scientific literature to be reliably associated with the disease?
   Yes_____                    No_____ 
4. 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)_____
5. Is this genetic condition associated with a severely disabling course and/or a lethal natural history?
   Yes_____                    No_____
6. 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