Targeted Risk-Based Carrier Screening
Targeted carrier screening for X-linked and autosomal recessive genetic diseases is considered medically necessary for individuals who are pregnant or are considering pregnancy and are at increased risk of having offspring with an X-linked or autosomal recessive disease when one of the following criteria is met:
One or both individuals have a first- or second-degree relative who is affected; OR
One individual is known to be a carrier; OR
One or both individuals are members of a population known to have a carrier rate that exceeds a threshold considered appropriate for testing for a particular condition.
AND all of the following criteria are met:
The natural history of the disease is well understood and there is a reasonable likelihood that the disease is one with high morbidity or early mortality in the homozygous or compound heterozygous state (see Policy Guidelines);
Alternative biochemical or other clinical tests to definitively diagnose carrier status are not available, or, if available, provide an indeterminate result or are individually less efficacious than genetic testing;
The genetic test has adequate clinical validity to guide clinical decision-making and residual risk is understood;
An association of the marker with the disorder has been established;
If targeted testing is performed by a panel, the panel meets the minimum number of recommended gene variants but does not exceed the maximum, as determined by professional clinical guidelines (see Policy Guidelines). Non-targeted panels can be used instead of targeted testing when the criteria for non-targeted carrier screening are met (see below);
Previous carrier screening or individual targeted gene testing for the gene variant(s) of interest has not been performed (see Policy Guidelines).
All targeted carrier screening not meeting any of the above criteria is considered investigational.
First-degree relatives include a biological parent, brother, sister, or child; second-degree relatives include a biologic grandparent, aunt, uncle, niece, nephew, grandchildren, and half-sibling.
Non-Targeted Carrier Screening
Non-targeted carrier screening panels for autosomal recessive and X-linked genetic disorders may be considered medically necessary as an alternative to testing of individual genes (eg, SMN1 gene and CFTR gene) for individuals who are pregnant or are considering pregnancy at any risk level including high risk and average risk when all of the following criteria are met:
The natural history of each disease is well understood and there is reasonable likelihood that the disease is one with high morbidity or early mortality in the homozygous or compound homozygous state (see Policy Guidelines);
Alternative biochemical or other clinical tests to definitively diagnose carrier status are not available, or, if available, provide an indeterminate result or are individually less efficacious than genetic testing;
The genetic test has adequate clinical validity to guide clinical decision-making and residual risk is understood;
An association of the markers with the disorders has been established;
If testing is performed by a panel, the panel meets the minimum number of recommended gene variants but does not exceed the maximum, as determined by professional clinical guidelines (see Policy Guidelines);
Previous carrier screening has not been performed (see Policy Guidelines).
Non-targeted carrier screening panels are considered investigational in all other situations when above criteria are not met (see Policy Guidelines).
