Appeal type: Experimental/Investigational
Decision: Overturned

Diagnosis: Spastic cerebral palsy
Issue under review: Screening for genetic disorders

Determination:
The health plan should cover the Screening for genetic disorders.

Whole exome sequencing is medically and clinically appropriate in the patient's developmental and clinical context. It will likely define her diagnosis, refine her prognosis, direct her future medical care, and provide recurrence risk information to her parents in future pregnancies.

Evidence-based medicine and published, peer-reviewed, authoritative medical literature render this testing, whole exome sequencing, medically and clinically appropriate in this girl with spastic quadriplegia, dysmorphic craniofacial features, developmental delay, and CNS (central nervous system) anomalies. 

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, 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 is the least burdensome alternative that 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 member, physician, or other health care practitioner. 

This girl 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 is not experimental, investigational, or unproven. It is now a standard of care in diagnosis of individuals with undefined and unexplained genetic and/or neurologic syndromes, developmental delay, skeletal dysplasias, malformations, birth defects, dysmorphic features, mental retardation, and autism spectrum disorders. The clinical and medical utility of this testing in delineating and identifying a specific gene mutation that would not be detectable by conventional microarray, targeted gene sequencing, karyotypic, cytogenetic and chromosomal studies, both prenatally and postnatally, is well proven and documented.