Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

ObjectiveThere is increasing evidence supporting the clinical utility of next generation sequencing for identifying fetal genetic disorders. However, there are limited data on the demand for and accessibility of these tests, as well as payer coverage in the prenatal context. We sought to identify clinician perspectives on the utility of prenatal exome sequencing (ES) and on equitable access to genomic technologies for the care of pregnancies complicated by fetal structural anomalies.MethodWe conducted two focus group discussions and six interviews with a total of 13 clinicians (11 genetic counselors; 2 Maternal Fetal Medicine/Geneticists) from U.S. academic centers and community clinics.ResultsParticipants strongly supported ES for prenatal diagnostic testing in pregnancies with fetal structural anomalies. Participants emphasized the value of prenatal ES as an opportunity for a continuum of care before, during, and after a pregnancy, not solely as informing decisions about abortions. Cost and coverage of the test was the main access barrier, and research was the main pathway to access ES in academic centers.ConclusionFurther integrating the perspectives of additional key stakeholders are important for understanding clinical utility, developing policies and practices to address access barriers, and assuring equitable provision of prenatal diagnostic testing. What is already known about this topic?Prenatal exome sequencing (ES) can identify a diagnosis in up to one third of pregnancies with fetal structural anomalies and a non-diagnostic chromosomal microarray.There are disparities in access to genomic technologies, including prenatal diagnostic testing.What does this study add?We report on the perspectives of clinicians from academic centers and community clinics on the utility of and access to prenatal ES.A goal of prenatal ES is to guide clinical care, rather than solely for decision-making regarding abortion.In academic centers, access to ES is primarily through studies; cost, lack of insurance coverage, and knowledge of genomic sequencing among non-genetics providers are major barriers to access.