Download Read a letter about our commercial policies

August 18, 2016
Provider name
Address
City State Zip
RE: Noninvasive prenatal testing (NIPT) of cell-free fetal DNA (cfDNA)
Dear [Provider name]:
PacificSource is committed to following evidence-based guidelines and practices for noninvasive prenatal
testing of cell-free fetal DNA. The following information applies to our commercial policies only.
Medicare and Medicaid plans have separate guidelines.
We are seeing an increased number of requests and claims for these tests and want to ensure you
understand PacificSource policies. Claims for testing performed outside of these guidelines may be
denied, and could leave your patients with significant out-of-pocket expenses.
Cell-free Fetal DNA testing for Trisomy 21, Trisomy 18, and Trisomy 13
PacificSource uses the following guideline: Cell-free fetal DNA testing may be warranted for fetal
aneuploidy when all of the following criteria are present:
•
•
•
Pregnancy is at increased risk for aneuploidy, as indicated by one or more of the following:
o Conventional screening tests positive for aneuploidy
o Fetal ultrasound (i.e., fetal nuchal translucency) indicates increased risk of
aneuploidy
o Maternal age will be 35 years or older at time of delivery
o Parental balanced translocation (Robertsonian) with increased risk of trisomy
o Prior pregnancy with aneuploidy
Screening is performed for one or more of the following:
o Trisomy 21 (Down syndrome)
o Trisomy 18 (Edwards syndrome)
o Trisomy 13 (Patau syndrome)
Single-gestation pregnancy
Examples of covered tests include: Harmony and MaterniTi21 Plus without microdeletions.
Microdeletion testing
Many of the test panels now include microdeletion testing. PacificSource considers microdeletion testing
investigational and experimental. If the approved testing can be separated from the microdeletion,
testing it may be approved. If not, the entire test will not be approved. Current examples of bundled tests
include, but are not limited to:
• Informed Pregnancy Screen with microdeletions (Counsyl),
• MaterniT21Plus (Sequenom),
• VerifiTM prenatal test (Progenity)
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Sex Chromosome testing using cell-free fetal DNA
Sex chromosome testing for fetal gender identification as part of an NIPT panel is considered not
medically necessary.
Specific disease testing: Fragile X, Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF)
PacificSource covers testing for specific genetic diseases only when the criteria are met. In addition,
when applicable, PacificSource covers only the limited genetic testing and not expanded mutation panels.
Additional testing criteria are available for other diseases not listed here.
• Fragile X and Spinal Muscular Atrophy (SMA) (See Attachment 1.)
• Cystic fibrosis
o PacificSource covers prenatal testing for cystic fibrosis. Expanded mutation testing
beyond the twenty-five mutations, which are recommended by the American College
of Medical Genetics, is not covered because it is considered investigational.
Examples of expanded mutation tests include, but are not limited to:
 CFnxt (Progenity) and nxtPanel (Progenity)
Ethnicity-based testing
PacificSource covers testing in certain ethnic groups due to the higher risk of inherited diseases.
Ashkenazi Jewish panel is covered when specific criteria are met. (See Attachment 2.)
Genetic counseling
PacificSource only covers prenatal genetic testing when it is accompanied by documentation of genetic
counseling. The counseling may be conducted informally by the MD, DO, or NP, or by a licensed genetic
counselor. Counseling must meet all of the following criteria:
• Counselor or provider is free of commercial bias and discloses all (potential and real)
financial and intellectual conflicts of interest.
• Counselor or provider is a healthcare professional with specialized education and training in
medical genetics.
• Process involves individual (and their family when applicable) and is comprised of all of the
following:
o Calculation and communication of genetic risks
o Discussion of natural history of condition in question, including role of heredity
o Evaluation to confirm, diagnose, or exclude genetic condition
o Identification of medical management issues, including available treatment options
and their implications
Following evidence-based guidelines is one way PacificSource strives to provide excellent service and
value to our members and partner providers. Please feel free to contact me with any concerns or
questions regarding this or any other issue.
Sincerely,
Justin Montoya, MD
Medical Director
[email protected]
(541) 225-2732
Enclosures
Attachment 1
Fragile X
FMR1 gene testing may be warranted when all of the following are present:
•
Diagnosis or screening of fragile X-related disorders, as indicated by one or more of
the following:
o Carrier testing for patient with family history of Fragile X-related disorder,
after disease-causing mutation (or premutation) has been identified in
affected relative
o Confirmation of diagnosis in individual with one or more of the following:
 Developmental delay, autism, mental retardation, physical or behavioral
characteristics suggestive of Fragile X syndrome, or relatives with
undiagnosed mental retardation
 Family history of movement disorder
 Older than 50 years, with progressive cerebellar ataxia and intention
tremor, unexplained by history, examination, and conventional testing
 Premature ovarian failure, unexplained by conventional testing
o Preimplantation genetic diagnosis, when disease-causing premutation or
mutation in FMR1 gene has been identified in mother
o Prenatal diagnosis, when disease-causing premutation or mutation in FMR1
gene has been identified in mother
Spinal Muscular Atrophy
SMN1 and SMN2 gene testing may be warranted when all of the following are present:
•
Diagnostic confirmation of spinal muscular atrophy or identification of carriers, as
indicated by one or more of the following:
o Carrier screening in at-risk individuals, as indicated by one or more of the
following:
 Parent or sibling of reproductive age of deceased child with suspected
spinal muscular atrophy without molecular genetic testing confirmation
 Parent or sibling of reproductive age of one or more children with spinal
muscular atrophy confirmed by molecular genetic testing
o Carrier screening of reproductive partner of known SMN mutation carrier
o Carrier screening prior to gamete donation if gamete recipient is carrier
o Confirmed or established diagnosis in individual suspected of having spinal
muscular atrophy
o Preimplantation genetic diagnosis, when disease-causing mutation has been
identified in both members of a couple
o Prenatal diagnosis, when disease-causing mutation has been identified in
both members of a couple
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Attachment 2
Ashkenazi Jewish Genetic Testing
Ashkenazi Jewish genetic panel testing may be indicated when all of the following are present:
•
•
Individual to be tested is of Ashkenazi Jewish ancestry and of reproductive age.
Panel testing is being ordered to assess for mutations associated with three or more of
the following diseases:
o Bloom syndrome
o Canavan disease
o Cystic fibrosis
o Dihydrolipoamide dehydrogenase deficiency
o Familial dysautonomia (Riley-Day syndrome)
o Familial hyperinsulinism
o Fanconi anemia group C
o Gaucher disease
o Glycogen storage disease type 1A
o Joubert syndrome 2
o Maple syrup urine disease
o Mucolipidosis IV
o Nemaline myopathy
o Niemann-Pick disease type A
o Spinal muscle atrophy
o Tay-Sachs disease
o Usher syndrome type 1F
o Usher syndrome type 3
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