Appeal type: Experimental/Investigational
Decision: Upheld

Physician 1: This patient is a 14-year-old female whose parents are requesting authorization and coverage for celiac gene testing. The patient has thyroiditis and Type 1 diabetes; during workup of these conditions screening markers suggested the patient might have celiac disease. The patients provider indicates that since the patient is currently on a non-wheat diet, standard testing for celiac disease is not possible; instead, genetic testing for the presence of HLADQ2 and HLADQ8 has been requested. The Health Plan has denied coverage for celiac gene testing on the basis it is considered investigational.Review of the relevant medical literature reveals celiac gene testing remains investigational. Since the patient is on a non-wheat diet, the development of celiac disease will not occur; thus, genetic testing is not justifiable. Furthermore, no medical plan has been presented as to what will be done if the patient is found to have positive markers for the disease. Thus, there is no indication for celiac gene testing in the case of this patient. Therefore, I have determined that the requested testing is not likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy. The Health Plans denial should be upheld.Physician 2: The patient is a 14-year-old female diagnosed with Type I diabetes mellitus and thyroiditis. Her physician states she has had positive markers for celiac disease, presumably her IgG/IgA patterns. The patient is on a low-carbohydrate, wheat-free and gluten-free diet. Since gluten avoidance is the treatment for celiac disease the patients provider believes this eliminates the usual biochemical and histological tests to confirm celiac disease and therefore, has requested specific HLA typing for HLADQ2 and HLADQ8 to see if the patient has the potential for celiac disease. The Health Plan has denied coverage for the requested testing indicting its efficacy has not been established.The presence of HLADQ2 and HLADQ8 are highly correlated with celiac disease (95%). The absence of these HLA markers decreases the likelihood of disease dramatically. A negative result would make the diagnosis unlikely. Neither result is as good as the gold standard in this case, a gluten challenge and biopsy. If making a diagnosis is critical, this could be done even on a carbohydrate restricted diabetic diet with minimal disruption to the diabetic management. On the other hand, the patient appears to be doing well on her current low-carbohydrate, wheat-free diet, which would be the treatment for celiac disease were it a proven diagnosis in this patient.Either of the above choices (gluten challenge and biopsy or a wheat-free diet) are more appropriate choices than celiac gene testing, which cannot provide definitive answers. Accordingly, I have determined that the requested testing is not likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy. The Health Plans denial should be upheld.Physician 3: The patient is a 14-year-old female diagnosed with Type I diabetes mellitus and thyroiditis. On initial screening she had positive markers for celiac disease. The patient is on a low- carbohydrate, wheat-free, and gluten-free diet. The patients provider has requested HLA typing for HLADQ2 and HLADQ8 to see if the patient has the potential for celiac disease. The Health Plan has denied coverage for the requested testing indicting its efficacy has not been established.The patient has diabetes and thyroiditis. Both conditions are known to be associated with celiac disease. Standard celiac tests (serological) are not valid in this patient as the patient appears to be IgA deficient. The endomysial antibodies and tissue transglutaminase serologic tests require IgA sufficiency as they are IgA based tests. The patients provider obtained an IgG based tissue transglutaminase test, which was positive. Because the patient is on a gluten-free diet, these tests as well as a biopsy will not reflect celiac disease. Therefore, celiac gene testing for HLADQ2 and HLADQ8 should be performed. This testing is standard medical practice in this type of situation. If negative, the diagnosis can be excluded and no further testing is needed. If positive, further testing would be indicated (i.e., gluten challenge and biopsy and repeating of the above serologic tests). Thus, celiac gene testing is likely to be of value in the evaluation and management of this patients condition.Based upon the information set forth above, I have determined that the requested testing is likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy. The Health Plans denial should be overturned.