Appeal type: Medical necessity
Decision: Upheld

Diagnosis: Abnormal pregnancy. 
Treatment: Foresight Carrier Genetic Testing. 

The insurer denied the Foresight Carrier Genetic Testing. 
The denial is upheld. 

The patient is a female who underwent Myriad Foresight Carrier Screen testing in pregnancy.  The pregnancy was abnormal with concern for a partial molar pregnancy. Based on the received documentation, there is no clinical indication that patient has personal or family history of inherited disorders.  The patient is appealing the determination. 

No, the proposed treatment Myriad Foresight Carrier Screen testing was not medically necessary. 

Expanded carrier screening does not replace previous risk-based screening recommendations. If obstetrician gynecologists or other health care providers do not offer expanded carrier screening in their practice, screening recommendations for individual disorders should follow guidelines for carrier screening as outlined in Committee Opinion No. 691, Carrier Screening for Genetic Conditions. All patients who are considering pregnancy or are already pregnant, regardless of screening strategy and ethnicity, should be offered carrier screening for cystic fibrosis and spinal muscular atrophy, as well as a complete blood count and screening for thalassemia and hemoglobinopathies. Fragile X premutation carrier screening is recommended for women with a family history of fragile X-related disorders or intellectual disability suggestive of fragile X syndrome, or women with a personal history of ovarian insufficiency. Additional screening also may be indicated based on family history or specific ethnicity, including screening for a limited number of specific diseases in individuals of Ashkenazi Jewish, African, Mediterranean, or Southeast Asian ancestry and screening individuals with a family history of or risk factors for genetic diseases. 

Although predefined panels are marketed by commercial laboratories, obstetrician gynecologists and other health care providers should carefully evaluate the conditions included and determine the appropriateness of the panels offered. As an alternative, some obstetrician gynecologists and other health care providers might choose to work with companies that perform expanded carrier screening to create a panel that is customized to suit their practice. After counseling regarding screening options, obstetrician gynecologists or other health care providers and patients may elect to screen for fewer or more conditions than those listed. The availability of expanded carrier screening does not preclude the appropriateness of ethnic-based screening or screening based on family history.

The American College of Medical Genetics and Genomics believes that advances in genetic technology need to be considered carefully before their incorporation into routine clinical care. The organization has defined the standard of care for prenatal/preconception population carrier screening for common single-gene autosomal recessive disorders (such as cystic fibrosis and spinal muscular atrophy) and a panel of single-gene autosomal recessive conditions specifically for the Ashkenazi Jewish population. These protocols have successfully guided reproductive decision-making for millions of families. 

In review of the current literature the testing using expanded panels is an acceptable standard recommendation for carrier screening as long as the disorders selected for inclusion: have a carrier frequency of one in 100 or greater, have a well-defined phenotype, have a detrimental effect on quality of life, cause cognitive or physical impairment, require surgical or medical intervention, or have an onset early in life. The American College of Obstetricians and Gynecologists (ACOG) states that although expanded panels are an acceptable strategy, "The availability of expanded carrier screening does not preclude the appropriateness of ethnic-based screening or screening based on family history."  Other metabolic, genetic, and congenital endocrine disorders are screened at the newborn screen. 

There is not any evidence in the peer-reviewed literature from large, randomized trials or high-quality prospective observational trials supporting the clinical utility and impact on patient management of expanded carrier screening panels over risk based screening.  The panel of tests that this patient underwent does not follow the recommendations per American College of Obstetricians and Gynecologists (ACOG) for testing.  Not all the disorders have a carrier frequency of one in 100 or greater, have a well-defined phenotype, have a detrimental effect on quality of life, cause cognitive or physical impairment, require surgical or medical intervention, or have an onset early in life. 

The panel of genetic disorders are also not associated with a partial molar pregnancy as this is not a chromosomal complication but rather a complication where two sperm fertilize one egg.  Therefore the genetic test panel performed does not follow the accepted standards of care and is not medically necessary.