Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Genetic Diseases
Treatment: Genetic Testing
The health plan denied the requested prenatal genetic testing as not medically necessary. 
The health plan's determination is overturned.

This patient is under consideration for carrier testing for cystic fibrosis, given the patient and partner were expecting a pregnancy together and his wife was noted to be a carrier for cystic fibrosis. The patient underwent carrier screening given his spouse was screen positive on the same platform for cystic fibrosis. In this case, the patient underwent a Horizon-2 panel for SMA and cystic fibrosis. In this case, the result was completed and reported and there was negative carrier state for cystic fibrosis on the platform and the spinal muscular atrophy (SMA) was noted for 2 copies of (survival motor neuron) SMN1 with absence of the variant to support 2+0 risk for carrier state for SMA.

I overturn, in whole, the health plan's determination of medical necessity in this case.

In this case, the requested health service/treatment of prenatal genetic testing is considered medically necessary for this patient. In this case, this is due to the finding of the spouse (who is pregnant by this person) being a positive carrier for cystic fibrosis.
If an individual is found to be a carrier for a specific condition, the individual's reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, located on chromosome 7. Two copies of deleterious mutations in this gene cause cystic fibrosis. Because screening is offered for only the most common mutations, a negative screening test result reduces but does not eliminate the chance of being a cystic fibrosis carrier and having an affected offspring. Therefore, if a patient is screened for cystic fibrosis and has a negative test result, she still has a residual risk of being a carrier.
To date, more than 1,700 mutations have been identified for cystic fibrosis. Current guidelines, revised by the American College of Medical Genetics and Genomics in 2004, recommend use of a panel that contains, at a minimum, the 23 most common mutations. Complete analysis of the CFTR gene by deoxyribonucleic acid (DNA) sequencing is not appropriate for routine carrier screening. This type of testing generally is reserved for patients with cystic fibrosis, patients with negative carrier screening result but a family history of cystic fibrosis (especially if family test results are not available), males with congenital bilateral absence of the vas deferens, or newborns with a positive newborn screening result when mutation testing (using the standard 23-mutation panel) has a negative result.
Carriers stay healthy because of the presence of one normal gene, and typically do not know they are a carrier without a genetic test that looks for a mutation. In each pregnancy a carrier has a 50% chance of passing on their normal gene and a 50% chance of passing on the non-working gene. A risk to have a child affected with cystic fibrosis exists when both parents are carriers. 
ACOG states the following: "As with all carrier screening, it is generally more cost effective and practical to perform initial carrier screening only for the patient. Cystic fibrosis carrier screening should be offered to all women who are considering pregnancy or are currently pregnant. If the patient is a cystic fibrosis carrier, then her partner should be tested. " Thus, the partner in this case should be tested.
In this case, only cystic fibrosis and spinal muscular atrophy testing were performed on this patient in the setting of the known partner being carrier screen positive for cystic fibrosis. Thus, this testing would have been medically necessary for the patient in this case.