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Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach
Authors:Shannon Rego  Hannah Hoban  Simon Outram  Astrid N. Zamora  Flavia Chen  Nuriye Sahin-Hodoglugil  Beatriz Anguiano  Matthew Norstad  Tiffany Yip  Billie Lianoglou  Teresa N. Sparks  Mary E. Norton  Barbara A. Koenig  Anne M. Slavotinek  Sara L. Ackerman
Affiliation:1. Institute for Human Genetics, University of California San Francisco, San Francisco, CA;2. Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA;3. Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, CA;4. Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA;5. Department of Social & Behavioral Sciences, School of Nursing, University of California San Francisco, San Francisco, CA;1. Department of Human and Molecular Genetics, Herbert Wertheim College of Medicine, Florida International University, Miami, FL;2. Department of Translational Medicine, Herbert Wertheim College of Medicine, Florida International University, Miami, FL;1. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;2. Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands;3. Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands;4. International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands;5. Nuffield Department of Women’s and Reproductive Health, University of Oxford, Women’s Centre, John Radcliffe Hospital, Oxford, United Kingdom;6. Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, United Kingdom;7. Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom;8. Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands;9. Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia;10. Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands;11. Department of Neurology, University of Alabama at Birmingham, Birmingham, AL;12. Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany;13. Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands;14. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, Victoria, Australia;15. Department of Pediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Victoria, Australia;16. Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany;17. Department of Clinical Genetics, Maastricht University Medical Center, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, Maastricht University, Maastricht, The Netherlands;18. CHU Sainte-Justine Research Center, Montreal, Quebec, Canada;19. Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada;20. University Children’s Hospital Belgrade, Belgrade, Serbia;21. Faculty of Medicine, University of Belgrade, Belgrade, Serbia;22. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;23. Institute of Human Genetics, University of Lübeck, Lübeck, Germany;24. Department of Neuropediatrics, Jena University Hospital, Jena, Germany;25. Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia;26. Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia;27. Department of Neuropaediatrics, Developmental Neurology, Social Pediatrics, University Children’s Hospital, University of Tübingen, Tübingen, Germany;28. Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA;29. Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA;30. INSMC Alessandrescu-Rusescu, Regional Center of Medical Genetics Bucharest, Bucharest, Romania;31. Genetic Health Queensland, Royal Brisbane and Women’s hospital, Herston, Queensland, Australia;32. School of Medicine, Griffith University, Southport, Queensland, Australia;33. Institute of Human Genetics, Heidelberg University, Heidelberg, Germany;34. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands;35. Praxis für Humangenetik-Bremen, Bremen, Germany;36. HudsonAlpha Institute for Biotechnology, Huntsville, AL;37. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands;38. Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands;1. Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium;2. Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium;3. Reproductive Genetics Unit, Center of Human Genetics, UZ Leuven, Leuven, Belgium;4. Department of Physiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland;1. The Department of Pediatrics, School of Medicine & Health Sciences, The George Washington University, Washington, DC;2. Department of Human and Molecular Genetics, Herbert Wertheim College of Medicine, Florida International University, Miami, FL;3. Department of Research, The Focus Foundation, Davidsonville, MD;4. Pediatric Endocrinology, The Herman & Walter Samuelson Children''s Hospital, Baltimore, MD;5. Department of Economics, Columbian College of Arts and Science, The George Washington University, Washington, DC;6. Department of Neurology & Rehabilitation Medicine, School of Medicine & Health Sciences, The George Washington University, Washington, DC;7. Division of Neurodevelopmental Pediatrics & Neurogenetics, Children’s National Health System, Washington, DC;1. Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY;2. Department of Medicine, Weill Cornell Medicine, Cornell University, New York, NY;3. St James''s Hospital, Trinity College Dublin, Trinity St. James''s Cancer Institute, Dublin, Ireland;4. Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY;5. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY;1. Division of Newborn Medicine, Department of Pediatrics, Boston Children’ Hospital and Harvard Medical School, Boston, MA;2. Division of Genetics & Genomics, Department of Pediatrics, Boston Children’s Hospital and Harvard Medical School, Boston, MA;3. The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA
Abstract:PurposePatients undergoing clinical exome sequencing (ES) are routinely offered the option to receive secondary findings (SF). However, little is known about the views of individuals from underrepresented minority pediatric or prenatal populations regarding SF.MethodsWe explored the preferences for receiving hypothetical categories of SF (H-SF) and reasons for accepting or declining actual SF through surveying (n = 149) and/or interviewing (n = 47) 190 families undergoing pediatric or prenatal ES.ResultsUnderrepresented minorities made up 75% of the probands. In total, 150 families (79%) accepted SF as part of their child/fetus’s ES. Most families (63%) wanted all categories of H-SF. Those who declined SF as part of ES were less likely to want H-SF across all categories. Interview findings indicate that some families did not recall their SF decision. Preparing for the future was a major motivator for accepting SF, and concerns about privacy, discrimination, and psychological effect drove decliners.ConclusionA notable subset of families (37%) did not want at least 1 category of H-SF, suggesting more hesitancy about receiving all available results than previously reported. The lack of recollection of SF decisions suggests a need for alternative communication approaches. Results highlight the importance of the inclusion of diverse populations in genomic research.
Keywords:Exome sequencing  Genome sequencing  Secondary findings
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