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Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US |
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| Authors: | Nuriye N Sahin-Hodoglugil Billie R Lianoglou Sara Ackerman Teresa N Sparks Mary E Norton |
| Institution: | 1. Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA;2. Center for Maternal-Fetal Precision Medicine, University of California San Francisco, San Francisco, California, USA
Division of Surgery, University of California San Francisco, San Francisco, California, USA;3. Department of Social & Behavioral Sciences, School of Nursing, University of California San Francisco, San Francisco, California, USA Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, California, USA;4. Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA Center for Maternal-Fetal Precision Medicine, University of California San Francisco, San Francisco, California, USA Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA |
| Abstract: | 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. |
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