Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018
Genetic testing of adults with suspected lactase insufficiency is proposed as an alternative to current diagnostic practices which include hydrogen breath test, lactose tolerance blood test, and intestinal biopsy. Targeted genetic testing for the -13910C>T variant is to inform a decision whether to undergo one of these diagnostic tests.
Lactase is an enzyme necessary for the digestion of the sugar lactose found in dairy products. An insufficiency of lactase results in the malabsorption of lactose which may lead to symptoms of lactose intolerance such as abdominal pain, bloating, diarrhea, and increased flatulence. Dietary restriction as the primary treatment is adequate in most circumstances. For the majority of individuals who do not achieve symptom control following dietary modifications, further diagnostic testing is indicated for the presence of other conditions that might cause symptoms similar to lactase deficiency.
Genetic testing of the variant MCM6 -13910C>T for the prediction of lactase insufficiency is considered investigational.
Any specific products referenced in this policy are just examples and are intended for illustrative purposes only. It is not intended to be a recommendation of one product over another and is not intended to represent a complete listing of all products available. These examples are contained in the parenthetical e.g. statement.
We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan, the express terms of the health plan will govern.
Meaningful improvements in health outcomes through the use of genotyping for lactase insufficiency have not been demonstrated.
BlueCross BlueShield Association. Evidence Positioning System. (6:2021). Genetic testing for lactase insufficiency (2.04.94). Retrieved July 15, 2021 from https://www.evidencepositioningsystem/. (39 articles and/or guidelines reviewed)
Enko, D., Rezanka, E., Stolba, R., & Halwachs-Baumann, G. (2014). Lactose malabsorption testing in daily clinical practice: a critical retrospective analysis and comparison of the hydrogen/methane breast test and genetic test (C/T-13910 polymorphism) results. Gastroenterology Research and Practice, 2014, Article ID 464382. (Level 4 evidence)
Mattar, R., Basile-Filho, A., Kemp, R., & Santos, J.S. (2013). Comparison of quick lactose intolerance test in duodenal biopsies of dyspeptic patients with single nucleotide polymorphism LCT-13910C>T associated with primary hypolactasia/lactase-persistence. Acta Cirurgica Brasileira, 28 Suppl1, 77-82. Abstract retrieved February 20, 2018 from PubMed database.
Misselwitz, B., Pohl, D., Frühauf, H., Fried, M., Vavricka, S., & Fox, N. (2013). Lactose, malabsorption, and intolerance: pathogenesis, diagnosis and treatment. United European Gastroenterology Journal, 1 (3), 151-159. (Level 5 evidence)
Santonocito, C., Scapaticci, M., Guarino, D., Annicchiarico, E.B., Lisci, R., Penitente, R., et al. (2015). Lactose intolerance genetic testing: is it useful as routine screening? Results on 1426 south-central Italy patients. Clinica Chemica Acta, 439, 14-17. Abstract retrieved December 12, 2018 from PubMed database.
ORIGINAL EFFECTIVE DATE: 12/14/2013
MOST RECENT REVIEW DATE: 9/9/2021
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