LCD L38288

Coverage Guidance

Title XVIII of the Social Security Act, §1862(a)(1)(A) allows coverage and payment for only those services that are considered to be reasonable and necessary for the diagnosis or treatment of illness or injury or to improve the functioning of a malformed body member.

42 CFR 410.32 Diagnostic x-ray tests, diagnostic laboratory tests, and other diagnostic tests: Conditions

CMS Internet-Only Manual, Pub. 100-02, Medicare Benefit Policy Manual, Chapter 15, §80 Requirements for Diagnostic X-Ray, Diagnostic Laboratory, and Other Diagnostic Tests, §80.1.1 Certification Changes

CMS Internet-Only Manual, Pub. 100-04, Medicare Claims Processing Manual, Chapter 16, §50.5 Jurisdiction of Laboratory Claims, §60.1.1 Independent Laboratory Specimen Drawing, §60.2 Travel Allowance

Indications and Limitations of Coverage

This Medicare contractor herein identifies general limitations to coverage of deoxyribonucleic acid (DNA) and ribonucleic acid (RNA)-based testing of germline genetic material of the Medicare beneficiary.

This contractor does not consider any laboratory test that investigates the same germline genetic content, for the same genetic information, that has already been tested in the same Medicare beneficiary to be reasonable and necessary as it is duplicative.

Germline testing, including using gene panels that contain some genetic content that has already been tested in the same Medicare beneficiary may be considered reasonable and necessary provided that there is established clinical utility present in the remaining, non-duplicative genetic components of the test. Unit of Service (UOS) for any one specific germline DNA or RNA-based test is limited to one per lifetime. Examples of germline tests include (but are not limited to) single gene and gene panel tests for: hereditary cancer syndromes or cancer predisposition, inherited disorders, and pharmacogenomics/cytochrome P450 testing.

Providers should take reasonable measures to be aware of what if any germline testing a beneficiary has had prior to billing for germline testing so as to avoid billing Medicare for services that are not reasonable and necessary. Clinicians who order germline testing may wish to be aware of whether the test that they are ordering is covered under Medicare and may wish to verify that they are not ordering repeat germline testing.

Summary of Evidence

Background

Patient DNA and RNA testing typically identify alterations or variants of nucleotides in the genetic code, which can range from pathogenic mutations to benign polymorphisms. These alterations can take the form of single nucleotide variants, insertions and/or deletions, splice-site variants, copy number alterations of genes or chromosomes, and inversions or translocations, among others.1 They can be found in coding regions or non-coding regions. Germline testing is differentiated from somatic testing in that somatic testing identifies alterations specific to an individual cell or group of cells derived from that cell (such as a neoplasm or clonal hematopoietic cells) whereas germline testing seeks to identify inherited variants or alleles that are present in all the patient’s cells and make up a baseline genetic code of the individual.2 Although somatic alterations are constantly occurring during the life of an individual, the germline sequence of an individual does not change over time.

Clinical utility of germline testing in Medicare beneficiaries has previously been established for several conditions.3-7 However, as repeated testing of the same genetic information does not by its nature provide new clinical information, this contractor does not believe it is either reasonable or necessary to perform such services more than once.

Analysis of Evidence

Level of Evidence

Quality of evidence – Strong

Strength of evidence – Strong

Weight of evidence – Strong

By definition, germline alleles/variants do not change. Some allowance must be made for incidental repeat testing or for specific situations where technological changes require revisiting the same genomic regions with different approaches or targets. For more details, please review the associated Billing and Coding Article.

Bibliography

• Kassem HS, Girolami F, Sanoudou D. Molecular genetics made simple. Glob Cardiol Sci Pract. 2012;2012(1):6. doi:10.5339/gcsp.2012.6

• Griffiths AJF, Miller JH, Suzuki DT, et al. An Introduction to Genetic Analysis. 7th ed. W.H. Freeman; 2000.

• NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Colon Cancer. Version 3.2021. https://www.nccn.org/professionals/physician_gls/pdf/colon.pdf. Accessed March 8, 2024.

• NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Ovarian Cancer. Version 3.2021. https://www.nccn.org/professionals/physician_gls/pdf/ovarian.pdf. Accessed March 8, 2024.

• Yadav S, Couch FJ. Germline genetic testing for breast cancer risk: the past, present, and future. Am Soc Clin Oncol Educ Book. 2019;39:61-74. doi:10.1200/EDBK_238987

• Cheng H, Powers J, Schaffer K, Sartor O. Practical methods for integrating genetic testing into clinical practice for advanced prostate cancer. Am Soc Clin Oncol Educ Book. 2018;38:372-381. doi:10.1200/EDBK_205441

• Ballester V, Cruz-Correa M. How and when to consider genetic testing for colon cancer? Gastroenterology. 2018;155(4):955-959. doi:10.1053/j.gastro.2018.08.031