Appeal type: Experimental/Investigational
Decision: Overturned

Diagnosis: Bilateral vitreous detachment, arthritis
Treatment: 81415 - Whole exome sequencing
The health plan should cover the 81415 - Whole exome sequencing. 

With this woman's extremely complicated clinical context, whole exome sequencing is clearly likely to be more beneficial in terms of diagnosis, producing treatment options, and improving her outcomes as compared to any other standard diagnostic treatment or treatments.

Evidence-based medicine and published, peer-reviewed, authoritative medical literature render this testing medically and clinically appropriate in this woman with an extremely complicated medical history. Whole Exome Sequencing (WES) to identify novel or unusual genetic disorders is now viewed as medically and clinically appropriate. It is consistent with the generally accepted "best practices" in medical genetics. It meets the generally accepted standards of medical genetics practice and is consistent with the views of the major professional medical genetic organizations in the United States. It is clinically appropriate for individuals with unusual combinations of medical problems that are not explained by any known genetic or nongenetic syndrome, neurogenetic disorders, unusual combinations of birth defects and congenital anomalies, unexplained intellectual disability, autism spectrum disorders, dysmorphic features and developmental delays. The available published, peer-reviewed scientific evidence clearly demonstrates the utility and efficacy of Whole Exome Sequencing for identification of specific gene mutations underlying developmental anomalies, anatomic birth defects, unusual clinical syndromes, mental retardation, developmental, and autistic syndromes to be effective in improving health outcomes. It is clinically appropriate in its type, frequency, extent and delivery settings. It is appropriate to the adverse health condition for which is provided and used and is expected to produce the desired outcome of a specific clinical and genetic diagnosis. It effectively addresses and treats this medical problem. WES provides essential, unique, and appropriate information when used for diagnostic purposes. Its use is clearly not for the convenience of the patient, physician, or other health care practitioner. In addition, this testing is lawfully marketed for the proposed use and is performed in CLIA (Clinical Laboratory Improvement Amendments)-approved laboratories. It is not the subject of review or approval by an IRB (institutional review board) for the proposed use. Its use in the context of this and related clinical cases is not the subject of a clinical trial.

This patient displays clinical features consistent with a genetic disorder, and the clinical condition is clearly associated with a significant disability, and, after history, physical examination, pedigree analysis and completion of conventional studies, a definitive diagnosis remains uncertain. The results of the requested test, whole Exome sequencing, will be used specifically for diagnosis of the underlying condition and may provide treatment options for the patient's disorder and influence current and future treatment, as well as provide recurrence risk information to the family. This testing is well supported by authoritative, peer-reviewed, published medical literature and does not require FDA approval for its performance.

Whole exome sequencing may well impact further medical management depending on the specific defect underpinning the cause of the malformations. Many genetic disorders predispose to unforeseen risks, tumor development, cardiomyopathy or cardiac conduction defects, seizures and many other clinical entities that are not directly linked to a physical trait. The medical management team for this patient has a broad differential of possible diagnoses and has considered WES as an effective manner in which to screen multiple genes at once.