Appeal type: Experimental/Investigational
Decision: Overturned

Diagnosis: Lung Cancer 
Treatment: Genetic testing 0037U 

The insurer denied the Genetic testing 0037U. The denial was reversed. 

This is a male patient with a diagnosis of adenocarcinoma with lymph node involvement -lung cancer. Specimens were sent for genetic testing. A FoundationOne is requested. 

FoundationOne is one of several panels of tumor markers designed to give the oncologist an option of treating in a personalized manner directed to the specific markers that the cancer expresses. FoundationOne is unique in that it is a pan-cancer profile not restricted to one specific histology. It is a clinical diagnostic test based on sequencing from about 300 cancer related genes. This test includes all existing genes that are currently being tested for any type of cancer (BRCA1&2, KRAS, BRAF, HER2, EGFR, etc.), but will include all exons and greater diagnostic sensitivity for mutations present in low abundance in heterogeneous samples which may suffer from mixed tumor and normal tissue, multiple clones, mixed aneuploidy etc. It will likely also contain the majority of known pharmacogenomic genes. 

FoundationOne claims to be highly accurate in identifying genomic alterations, including sensitivity greater than 99% for detection of base substitutions, 98% for detection of insertions and deletions, and greater than 95% for detection of copy number alterations, while maintaining greater than 99% specificity. Application of FoundationOne to 2,221 clinical cases revealed clinically actionable alterations in 76% of tumor samples, three times the number of actionable alterations detected by other currently available diagnostic tests. Alterations are defined as clinically actionable if linked to a Food and Drug Administration (FDA) approved targeted therapy in the tumor under study or another solid tumor, a known or suspected contraindication to a given therapy, or an open clinical trial for which the alteration confers patient eligibility. 

Per Fielding D. et al. (2017), "This study has successfully demonstrated the application of amplicon sequencing to the detection of potentially actionable mutations in diagnostic endobronchial ultrasound- transbronchial needle aspiration [EBUS-TBNA] samples. This was achieved without increasing the overall number of needle passes beyond current literature (11)..." 

Per the U.S. FDA (2019), "FoundationOne CDx (F1CDx) is a laboratory test designed to detect genetic mutations in 324 genes and two genomic signatures in any solid tumor. F1CDx is a companion diagnostic used to identify patients with certain genetic mutations who MAY benefit from FDA-approved treatments for non-small cell lung cancer, melanoma, breast cancer, colorectal cancer, and ovarian cancer...F1CDx can help doctors identify patients who MAY benefit from treatment with targeted therapies for a variety of cancer types (listed above). This test provides profiling information on a number of different cancer tumor mutations that may help in the clinical management of oncology patients. This is an important advancement, because it allows patients and health care providers to access all of this information in one test report, and avoid duplicative biopsies." 

The requested service, Genetic testing 0037U is likely to be more beneficial than any of the standard treatments/procedures for this patient.                                           

The carrier's denial of Genetic testing 0037U should be reversed.