Currentblue cross blue shield - tennesseePolicy N/A

Genetic Testing for Adolescent Idiopathic Scoliosis

This policy defines coverage stance for DNA-based prognostic genetic testing for adolescent idiopathic scoliosis (AIS) and describes clinical background, evidence, and limitations affecting Blue Cross Blue Shield - Tennessee members.

Policy Summary

Payerblue cross blue shield - tennessee

PolicyGenetic Testing for Adolescent Idiopathic Scoliosis

Policy CodePolicy N/A

Change TypeNo material change

Effective DateJul 1, 2023

Next Review Date

Key ActionDo not submit prior authorization requests for DNA-based prognostic AIS testing for prognostic purposes because these tests are not covered.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

7/1/2023policy adoption

2-3%AIS prevalence

10%progression to severe

53ScoliScore markers

1-200ScoliScore range

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Not Medically Necessary / Not Covered

Not covered when:

DNA-based prognostic testing for AIS: DNA-based prognostic testing for adolescent idiopathic scoliosis does not meet coverage criteria due to a lack of available published scientific literature confirming that the test is required and beneficial for diagnosis and treatment

Includes proprietary tests such as ScoliScore used to predict curve progression

DNA-based prognostic testing for adolescent idiopathic scoliosis is excluded from coverage. The policy states that such testing "DOES NOT MEET COVERAGE CRITERIA" due to insufficient published scientific literature confirming that the test is required and beneficial for diagnosis and treatment.

Laboratory-developed tests (LDTs) are regulated by the Centers for Medicare and Medicaid as high-complexity tests under CLIA '88. The policy notes that LDTs are not approved or cleared by the U.S. Food and Drug Administration, and that FDA clearance or approval is not currently required for clinical use.

Conclusion: DNA-based prognostic testing for adolescent idiopathic scoliosis does not meet coverage criteria. Such tests lack sufficient published evidence demonstrating they are necessary or beneficial to guide diagnosis or treatment decisions.

Prognostic genetic testing to predict spinal curve progression in adolescent idiopathic scoliosis — Evidence assessment

Evidence and clinical assessment informing coverage stance (summary):

Prognostic genetic testing for AIS — evidence assessment: Published evaluations and replication studies (including independent validations) have not demonstrated consistent, generalizable clinical utility of DNA-based prognostic tests (for example, ScoliScore) to reliably predict spinal-curve progression and alter management in a way that improves health outcomes.

See listed evidence references and independent evaluations; developer-reported performance has limited independent replication.

Representative study findings referenced in the evidence base: Independent evaluation(s) and replication studies cited in the literature include: Roye et al. J Bone Joint Surg Am (2015) independent evaluation; Roye et al. Spine (2012) assessment of ScoliScore clinical information; validation and replication studies in multiple populations (Ward et al. validation; Ogura et al. replication of 53 SNPs; Tang et al. French-Canadian replication). These studies inform the determination that evidence is insufficient for coverage.

References listed for clinicians to review.

Regulatory and laboratory considerations: Laboratory-developed tests (LDTs) and proprietary assays must be validated and are regulated under CLIA; FDA clearance is not required for clinical use, but regulatory status does not establish clinical utility or coverage eligibility.

Policy cites CLIA/LDT regulatory context separately from clinical evidence.

Provider Actions and Billing

Prior Authorization

Authorization tied to adopted policy

Prior authorization is tied to this policy adoption effective 07/01/2023. Authorization and payer processes that reference this policy apply from the effective date; providers should follow the payer's authorization process in effect for Blue Cross Blue Shield - Tennessee tied to this policy.

Authorization processes align to this policy effective 7/1/2023

Note

Government policy precedence for coverage determinations

Coverage determinations will defer to applicable government policies (e.g., Local Coverage Determinations [LCDs], National Coverage Determinations [NCDs], and state Medicaid policies) when those government policies conflict with this payer policy. Check CMS and state Medicaid resources for the most current determinations.

Refer to CMS Medicare Coverage Database: http://www.cms.gov/medicare-coverage-database/overview-and-quicksearch.aspx
If state Medicaid policy differs, follow the applicable state Medicaid website

Documentation Required

Regulatory and laboratory validation notes

LDTs (laboratory-developed tests) are regulated under CLIA as high-complexity tests and must be validated and performed in-house by the testing laboratory. FDA clearance/approval is not required for clinical use of LDTs. Providers should ensure the performing laboratory meets CLIA requirements and maintains appropriate validation documentation.

LDTs are not FDA-cleared/approved but may be clinically used
Ensure performing lab is CLIA-certified for high-complexity testing

Denial Risk

Denial for DNA-based prognostic AIS testing

Prior authorization is not applicable to DNA-based prognostic testing for adolescent idiopathic scoliosis because these tests DO NOT MEET COVERAGE CRITERIA for prognostic use; requests for DNA-based prognostic AIS testing should be denied per policy when submitted for prognostic purposes.

Denial trigger: request for DNA-based prognostic AIS testing for prognostic purposes

Note

PROVIDER ACTIONS — operational checklist

Provider actions summary: follow payer authorization processes effective 7/1/2023; defer to LCDs/NCDs or state Medicaid policies when those conflict with this policy; verify the performing laboratory is CLIA-certified and that any LDT has been validated by the lab.

Authorization tied to policy effective 7/1/2023
Government policies (LCD/NCD/state) take precedence
LDTs must be validated and performed in CLIA-certified labs

Definitions

Adolescent idiopathic scoliosis (AIS) — definition

TermAdolescent idiopathic scoliosis (AIS)

Age of onsetTypically occurs after age 10

EtiologyIdiopathic (unknown cause)

Familial tendencyTends to run in families (familial tendencies documented)

Clinical noteMost individuals do not experience progression; only a small percentage require treatment

ScoliScore — proprietary genetic prognostic test

Test name (example)ScoliScore™ (proprietary)

Markers evaluated53 single nucleotide polymorphisms (SNPs)

Risk score rangeCombined with Cobb angle to produce a risk score from 1 to 200

Intended usePrediction of likelihood of curve progression in AIS

Developer / population noteDeveloped by Axial Biotechnology; noted as appropriate for Caucasian patients ages 9–13 with mild to moderate curve

Performance claimDeveloper-claimed 99% negative predictive value for risk of progression

DNA-based prognostic test / ScoliScore-like tests — definition

DefinitionProprietary or laboratory DNA-based prognostic tests intended to predict risk of spinal curve progression in adolescent idiopathic scoliosis (example: ScoliScore and similar assays)

Test compositionTypically assess multiple SNPs (polygenic panels) and may combine genetic data with clinical measures (e.g., Cobb angle)

Examples in evidence baseValidation and replication studies referenced in literature (e.g., Ward 2010; Roye 2015; Roye 2012)

Regulatory contextOften developed as laboratory-developed tests (LDTs) and discussed in evidence reviews rather than established as standard clinical care

OpenPayer

Genetic Testing for Adolescent Idiopathic Scoliosis

Coverage Criteria

Not Covered Services

Provider Actions and Billing

Definitions

Clinical Background