Carrier Screening for Genetic Diseases (2.04.107)
Summary
Blue Shield of California medical policy 2.04.107 treats targeted carrier screening for X-linked and autosomal recessive genetic diseases as medically necessary for individuals who are pregnant or considering pregnancy and are at increased risk of having offspring with one of these diseases. Targeted screening must meet one risk criterion (a first- or second-degree relative who is affected, a known carrier, or membership in a population with a carrier rate above the testing threshold) and all of six listed criteria. Those criteria include that alternative tests are not available or are less efficacious, that the genetic test has adequate clinical validity, and that previous carrier screening or individual targeted gene testing for the variant has not been performed. Non-targeted carrier screening panels may be considered medically necessary as an alternative to testing individual genes for individuals who are pregnant or considering pregnancy at any risk level, including high risk and average risk, when the listed criteria are met. Carrier screening is medically necessary only once per lifetime and should only be performed in adults. Targeted screening that does not meet the criteria, and non-targeted panels in all other situations, are considered investigational. The 11/01/2026 annual review made no change to the policy statement.
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