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.
Ashkenazi Jewish Carrier Screening
Ashkenazi Jewish carrier screening is available for certain genetic conditions that are more common and/or have superior mutation detection rates in the Ashkenazi Jewish population. "Ashkenazi" refers to someone whose Jewish ancestors originally came from Central or Eastern Europe (e.g., Russia, Poland, Germany, Hungary, Lithuania, etc). Most Jewish people in the US are of Ashkenazi descent.
Ashkenazi Jewish Genetic Diseases Carrier Screening Panels
- Testing may be considered for carrier screening for all or any desired subset of the Ashkenazi Jewish genetic diseases eligible for coverage below when the following criteria are met:
- The individual is planning a pregnancy or currently pregnant; and
- At least one partner of a couple is Ashkenazi Jewish (NOTE: Detection rates for testing are higher in people with Ashkenazi Jewish ancestry. If only one partner of a couple is Ashkenazi Jewish, testing should start in that person when possible.); and
- Testing will be billed using the procedure code 81412 that will represent all tests performed for the assessment of carrier status based on Ashkenazi Jewish ancestry and no additional tests for this purpose will be separately billed by the same lab for the same test date; or
- Testing for separate genes will be billed because the panel code is not more appropriate (e.g., fewer than the 9 stated genes will be assessed or a different methodology is used), in which case individual gene test coverage will be assessed based on the guidance provided below.
Single Ashkenazi Jewish Genetic Diseases Carrier Screening Tests
- Testing may be considered for carrier screening of a single Ashkenazi Jewish disease, regardless of ethnicity or reproductive plans, if EITHER of the following are met:
- The individual has a family history of one of these conditions; or
- The individual’s partner is a known carrier or affected with any of these conditions
The genes included in carrier screening panels vary widely between laboratories, but the following list includes the most commonly tested conditions.
- Bloom Syndrome
- Canavan Disease
- Cystic Fibrosis
- Dihydrolipoamide Dehydrogenase Deficiency (DLD)
- Familial Dysautonomia (FD)
- Familial Hyperinsulinism (FHI)
- Fanconi Anemia group C
- Gaucher Disease
- Glycogen Storage Disease type 1A (GSD1A)
- Joubert Syndrome 2
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis IV
- Nemaline Myopathy (NM)
- Niemann-Pick Disease Type A
- Tay-Sachs Disease
- Usher Syndrome III
- Usher Syndrome Type 1F
Procedure Codes |
81200, 81205, 81209, 81220, 81242, 81250, 81251, 81255, 81260, 81290, 81330, 81400, 81401, 81402, 81403, 81404, 81405, 81406, 81407, 81408, 81412, 81479 |
Familial Malignant Melanoma Testing
Familial malignant melanoma (FMM) is a strongly inherited form of melanoma. FMM is most likely in a family when there are three or more close relatives diagnosed with melanoma.
- This test is considered investigational and/or experimental.
- Investigational and experimental (I&E) molecular and genomic (MolGen) tests refer to assays involving chromosomes, DNA, RNA, or gene products that have insufficient data to determine the net health impact, which typically means there is insufficient data to support that a test accurately assesses the outcome of interest (analytical and clinical validity), significantly improves health outcomes (clinical utility), and/or performs better than an existing standard of care medical management option. Such tests are also not generally accepted as standard of care in the evaluation or management of a particular condition.
- In the case of MolGen testing, FDA clearance is not a reliable standard given the number of laboratory developed tests that currently fall outside of FDA oversight and FDA clearance often does not assess clinical utility.
Newborn Child Testing (HB 1654, Act 148 of 2014)
The following screening tests are covered for newborn children:
- Phenylketonuria (PKU)
- Maple syrup urine disease (MSUD)
- Sickle-cell disease (hemoglobinopathies)
- Galactosemia
- Congenital adrenal hyperplasia (CAH)
- Primary congenital hypothyroidism
- Certain Lysosomal storage disorders (LSDs), including:
- Globoid Cell Leukodystrophy (Krabbe)
- Fabry
- Pompe
- Niemann-Pick
- Gaucher
- Hurler Syndrome (MPS I)
Procedure Codes |
80406, 81205, 81251, 81330, 81405, 81406, 81479, 82657, 82759, 82760, 82776, 83020, 83021, 83498, 84030, 84437, 84443, S3620, S3849, S3850 |
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.
Ashkenazi Jewish Carrier Screening
- The American College of Obstetrics and Gynecology (ACOG, 2009) and the American College of Medical Genetics (ACMG, 2008) recommend carrier screening for a group of disorders when at least one member of a couple is Ashkenazi Jewish and that couple is pregnant or planning pregnancy.
- Both organizations agree that testing should be offered for cystic fibrosis, Canavan disease, familial dysautonomia, and Tay-Sachs.
- ACMG also recommends routine testing for Fanconi anemia, Niemann- Pick, Bloom syndrome, mucolipidosisIV, and Gaucher disease; while ACOG states "individuals of Ashkenazi Jewish descent may inquire about the availability of carrier screening for other disorders" and educational materials may be provided to assist informed decision making about additional tests.
- Carrier screening for common Ashkenazi Jewish mutations that cause many other conditions is now clinically available, but these tests are not specifically addressed in current carrier screening guidelines. However, the 2008 ACMG guidelines outline the criteria for recommending additional carrier screening in the Ashkenazi Jewish population as new tests become available. These include:
- The natural history must be well understood,
- People affected with the disorder must have significant morbidity and mortality, and
- The test must have greater than 90% detection OR the allele frequency must be at least 1%.
- Dilipoamide dehydrogenase deficiency, familial hyperinsulinism, GSD1a, Joubert syndrome 2, MSUD, nemaline myopathy, and Usher syndrome type III meet these criteria.
Familial Malignant Melanoma Testing
- The Melanoma Genetics Consortium (GenoMEL), an international research collaborative group, published a consensus statement in 1999 stating, "DNA testing for mutations in known melanoma susceptibility genes should only rarely be performed outside of defined research programs. With this general proviso, two distinct clinical situations need further consideration: families in which a CDKN2A mutation has been identified in a proband as part of a research study and families for which no prior testing of affected individuals has been conducted."
- "Individuals who choose to undergo genetic testing [in a research setting] should have a second independent diagnostic (as distinct from research) DNA test performed in an accredited genetic testing laboratory."
- For at-risk relatives with a known familial mutation, test sensitivity is virtually 100%. However, the likelihood of developing melanoma in mutation-positive individuals is largely unknown and there is "lack of proved efficacy of prevention and surveillance strategies based on DNA testing, even for mutation carriers." They do acknowledge potential benefits could include enhanced motivation to adhere to prevention and screening guidelines, earlier melanoma diagnosis if the biopsy threshold is lower, and lower anxiety for those who learn they are negative for a known family mutation.
- The National Comprehensive Cancer Network (NCCN) Melanoma Guideline (updated 2015) includes family history as a melanoma risk factor and alters management based on this risk. However, these guidelines do not address genetic testing for FMM.
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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.
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.