Appeal type: Experimental/Investigational
Decision: Upheld

Diagnosis:  Infertility.
Treatment:  Current Procedural Terminology (CPT) code 81443 Genetic testing for severe inherited conditions (e.g., cystic fibrosis, Ashkenazi Jewish-associated disorders [e.g., Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia, genomic sequence analysis panel, must include sequencing of at least 15 genes).

The insurer denied coverage for CPT code 81443.  The denial is upheld. 

This is a female patient with a diagnosis of infertility.  She consulted a reproductive endocrinologist and underwent expanded carrier testing.  The patient underwent expanded genetic carrier screening.  

Because genetic testing technology has evolved rapidly over the past decade, it is now possible to screen for a large number of conditions simultaneously.  This testing strategy is known as expanded carrier screening.  Expanded carrier screening panels offered by laboratories typically include options to screen from 5-10 conditions to as many as several hundred conditions.  Traditionally, panethnic screening has been defined as making screening for specific recommended conditions available to all patients, regardless of ethnic or racial background.  This approach largely has been supplanted by expanded carrier screening because of its efficiency and economy.  

The American College of Obstetrics and Gynecology, in its Committee Opinion, states: "Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for pre-pregnancy and prenatal carrier screening.  Each obstetrician-gynecologist or other health care provider or practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy.  After counseling, a patient may decline any or all carrier screening... retest counseling that includes information on the types of potential results as well as the risks, limitations, and benefits of testing should be provided to all patients before performing any form of genetic test.  After counseling, patients should have the option to decline any or all testing." 

There is no evidence in the medical records that the patient was counseled by the attending gynecologist on expanded genetic carrier testing.  Therefore, the patient does not meet the standard of care.  Therefore, the scientific evidence in peer-reviewed literature does not support a result of improvement in health outcome in this clinical scenario.  Current Procedural Terminology (CPT) code 81443 Genetic testing for severe inherited conditions (e.g., cystic fibrosis, Ashkenazi Jewish-associated disorders [e.g., Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia, genomic sequence analysis panel, must include sequencing of at least 15 genes) is not the best available treatment for this patient at this time.  The requested service is not likely to be more beneficial than any of the standard treatment for this patient.

The carrier's denial of coverage for CPT code 81443 should be upheld.