This story has been updated to clarify that UHC's new policy covers whole-genome sequencing.
NEW YORK – UnitedHealthcare has issued a new policy providing coverage of whole-genome sequencing for a variety of non-cancer indications.
The medical policy, effective April 1, applies to all UHC commercial benefit plans as well as the company's individual exchange benefit plans in all states except for Colorado, Massachusetts, Nevada, and New York. UHC stated that the policy is limited to genetic testing in an outpatient setting or upon discharge from an inpatient setting.
For whole-genome sequencing (WGS), UHC considers the technology "medically necessary" when a patient, who has not previously received chromosome microarray analysis (CMA) or whole-exome sequencing (WES), has clinical features that are nonspecific and do not fit a well-defined syndrome for a specific or targeted gene test.
The test will only be covered if the patient presents a clinical history that "strongly suggests a genetic cause" and has one or more of the following features: multiple congenital anomalies (must affect different organ systems); moderate, severe, or profound intellectual disability diagnosed by 18 years of age; or global developmental delay, or epileptic encephalopathy with onset before 3 years of age.
The policy also allows coverage of WGS if a patient, whose clinical history strongly suggests a genetic cause, presents two or more stipulated features, such as congenital anomaly, significant hearing or visual impairment diagnosed by 18 years of age, laboratory abnormalities suggestive of an error of metabolism (IEM), autism spectrum disorder, or neuropsychiatric condition.
UHC noted that WGS is "not medically necessary for any other clinical situation due to the availability of clinically equivalent diagnostic tests."
The policy also iterated UHC's coverage criteria for WES. The payor said it will cover patients whose clinical presentation is "nonspecific and does not fit a well-defined syndrome for which a specific or targeted gene test is available" for diagnosing or evaluating a genetic disorder when the results are expected to directly influence medical management.
WES can be ordered by a medical geneticist, neonatologist, neurologist, or developmental pediatrician if a patient's clinical history "strongly suggests a genetic cause" and presents one or more of the stipulated features, such as multiple congenital anomalies that affect different organ systems; moderate, severe, or profound intellectual disability diagnosed by 18 years of age; global developmental delay; or epileptic encephalopathy with onset before three years of age.
Alternatively, a patient's clinical history needs to strongly suggest a genetic cause and present two or more stipulated clinical features, such as congenital anomaly, significant hearing or visual impairment diagnosed by 18 years of age, laboratory abnormalities suggestive of an inborn IEM, autism spectrum disorder, or neuropsychiatric condition.
In addition, UHC deemed comparator WES "proven and medically necessary" for evaluating a genetic disorder once criteria have been met and WES is performed concurrently or has been previously performed on the patient.
The payor is also covering reanalysis of WES after at least 18 months when the criteria for initial WES have been met and the patient experiences additional symptoms that cannot be explained by the results of the initial WES or "new data or new family history emerges which suggest a link between the individual's symptoms and specific genes."
"The insurance providers are recognizing that there is demonstrated utility of genomic sequencing services for rare diseases," said Heidi Rehm, chief genomics officer at Massachusetts General Hospital. "The general sentiment is that it's pretty clear for a number of indications, it is much more cost-effective to go directly to exome or genome sequencing."
Rehm noted that many phenotypes delineated in UHC’s new policy are difficult to diagnose at a molecular level. Therefore, patients with these phenotypes normally have to go through a diagnostic odyssey that entails multiple panel testing, microarrays, and karyotyping assays before moving on to WES or WGS testing.
By covering WES and WGS, Rehm pointed out, policies such as UHC's would at least strike down some of the barriers for certain patients to receiving whole-genome or whole-exome sequencing tests.