Julia R Trosman1,2, Christine B Weldon3,4, Anne Slavotinek5, Mary E Norton6, Michael P Douglas3, Kathryn A Phillips7. 1. Department of Clinical Pharmacy; Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), University of California-San Francisco, San Francisco, CA, USA. trosman@centerforbusinessmodels.com. 2. Center for Business Models in Healthcare, San Francisco, CA, USA. trosman@centerforbusinessmodels.com. 3. Department of Clinical Pharmacy; Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), University of California-San Francisco, San Francisco, CA, USA. 4. Center for Business Models in Healthcare, San Francisco, CA, USA. 5. Department of Pediatrics, University of California-San Francisco, San Francisco, CA, USA. 6. Department of Obstetrics, Gynecology and Reproductive Sciences, Division of Maternal Fetal Medicine, University of California-San Francisco, San Francisco, CA, USA. 7. Department of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), UCSF Philip R. Lee Institute for Health Policy, and UCSF Helen Diller Family Comprehensive Cancer Center, University of California-San Francisco, San Francisco, CA, USA.
Abstract
PURPOSE: Exome sequencing (ES) has the potential to improve management of congenital anomalies and neurodevelopmental disorders in fetuses, infants, and children. US payers are key stakeholders in patient access to ES. We examined how payers view insurance coverage and clinical utility of pediatric and prenatal ES. METHODS: We employed the framework approach of qualitative research to conduct this study. The study cohort represented 14 payers collectively covering 170,000,000 enrollees. RESULTS: Seventy-one percent of payers covered pediatric ES despite perceived insufficient evidence because they saw merit in available interventions or in ending the diagnostic odyssey. None covered prenatal ES, because they saw no merit. For pediatric ES, 50% agreed with expanded aspects of clinical utility (e.g., information utility), and 21% considered them sufficient for coverage. For prenatal ES, payers saw little utility until in utero interventions become available. CONCLUSION: The perceived merit of ES is becoming a factor in payers' coverage for serious diseases with available interventions, even when evidence is perceived insufficient. Payers' views on ES's clinical utility are expanding to include informational utility, aligning with the views of patients and other stakeholders. Our findings inform clinical research, patient advocacy, and policy-making, allowing them to be more relevant to payers.
PURPOSE: Exome sequencing (ES) has the potential to improve management of congenital anomalies and neurodevelopmental disorders in fetuses, infants, and children. US payers are key stakeholders in patient access to ES. We examined how payers view insurance coverage and clinical utility of pediatric and prenatal ES. METHODS: We employed the framework approach of qualitative research to conduct this study. The study cohort represented 14 payers collectively covering 170,000,000 enrollees. RESULTS: Seventy-one percent of payers covered pediatric ES despite perceived insufficient evidence because they saw merit in available interventions or in ending the diagnostic odyssey. None covered prenatal ES, because they saw no merit. For pediatric ES, 50% agreed with expanded aspects of clinical utility (e.g., information utility), and 21% considered them sufficient for coverage. For prenatal ES, payers saw little utility until in utero interventions become available. CONCLUSION: The perceived merit of ES is becoming a factor in payers' coverage for serious diseases with available interventions, even when evidence is perceived insufficient. Payers' views on ES's clinical utility are expanding to include informational utility, aligning with the views of patients and other stakeholders. Our findings inform clinical research, patient advocacy, and policy-making, allowing them to be more relevant to payers.
Authors: Fionnuala Mone; Elizabeth Quinlan-Jones; Andrew K Ewer; Mark D Kilby Journal: Arch Dis Child Fetal Neonatal Ed Date: 2019-02-01 Impact factor: 5.747
Authors: Kathryn A Phillips; Julia R Trosman; Michael P Douglas; Bruce D Gelb; Bart S Ferket; Lucia A Hindorff; Anne M Slavotinek; Jonathan S Berg; Heidi V Russell; Beth Devine; Veronica Greve; Hadley Stevens Smith Journal: Genet Med Date: 2021-11-30 Impact factor: 8.822
Authors: Grace A Lin; Julia R Trosman; Michael P Douglas; Christine B Weldon; Maren T Scheuner; Allison Kurian; Kathryn A Phillips Journal: J Genet Couns Date: 2021-07-07 Impact factor: 2.537
Authors: Elena Valeryevna Feofanova; Guo-Qiang Zhang; Samden Lhatoo; Ginger A Metcalf; Eric Boerwinkle; Eric Venner Journal: JMIR Res Protoc Date: 2021-03-26
Authors: Christian R Marshall; David Bick; John W Belmont; Stacie L Taylor; Euan Ashley; David Dimmock; Vaidehi Jobanputra; Hutton M Kearney; Shashikant Kulkarni; Heidi Rehm Journal: Genome Med Date: 2020-05-27 Impact factor: 11.117