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 in individuals who have suspected lactase insufficiency 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 which are caused by bacterial fermentation of undigested lactose in the colon. Dietary restriction is adequate in most circumstances as the primary treatment for lactase insufficient individuals. These individuals who achieve satisfactory symptom control following dietary modifications do not require further diagnostic testing, however 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 -13910C>T for the prediction of lactase insufficiency is considered investigational.
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Direct evidence for the clinical utility of genotyping for lactase insufficiency is lacking. Meaningful improvements in health outcomes through the use of genotyping for lactase insufficiency have not been demonstrated.
BlueCross BlueShield Association. Medical Policy Reference Manual. (9:2017). Genetic testing for lactase insufficiency (2.04.94). Retrieved February 20, 2018 from BlueWeb. (40 articles and/or guidelines reviewed)
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)
ORIGINAL EFFECTIVE DATE: 12/14/2013
MOST RECENT REVIEW DATE: 3/8/2018
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