Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants
Introduction: Returning research-based genetic results (gRoR) to participants in nephrology research can improve care; however, the practice raises implementational questions and no established guidelines for this process currently exist. Nephrologists' views on this issue can inform the proces...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-11-01
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| Series: | Kidney International Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468024924019119 |
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| author | Robyn Weiss Hila Milo Rasouly Maddalena Marasa Hilda Fernandez Fangming Lin Maya Sabatello |
| author_facet | Robyn Weiss Hila Milo Rasouly Maddalena Marasa Hilda Fernandez Fangming Lin Maya Sabatello |
| author_sort | Robyn Weiss |
| collection | DOAJ |
| description | Introduction: Returning research-based genetic results (gRoR) to participants in nephrology research can improve care; however, the practice raises implementational questions and no established guidelines for this process currently exist. Nephrologists' views on this issue can inform the process but are understudied. Methods: We developed a conceptual workflow for gRoR from literature and experience, covering aspects such as which results to return, how, and by whom. We surveyed US nephrologists to gauge their views on the workflow and anticipated barriers and collected participants' demographics, including professional backgrounds. Results: A total of 201 adult and pediatric nephrologists completed the survey. Most of them agreed that all diagnostic kidney-related results (93%), secondary findings (80%), and kidney-related risk variants (83%) should be returned. No significant differences were found between adult and pediatric nephrologists’ responses, except that 48% of adult nephrologists versus 26% of pediatric nephrologists supported returning polygenic risk scores (PRS) (P < 0.01). Seventy-nine percent wanted to know about research results before clinical confirmation. Most of them (63%) believed a genetic counselor should return clinically confirmed results. Key barriers included the cost of clinical validation (77%) and the unavailability of genetic counseling services (63%). Facilitators included educational resources on genetic kidney diseases (91%), a referral list of experts (89%), and clear clinical care guidelines (89%). We discuss findings’ implications and provide “points to consider.” Conclusion: There is significant interest in gRoR among nephrologists; however, logistical and economic concerns need addressing. Identified facilitators can help large nephrology studies planning to return genetic results to participants. |
| format | Article |
| id | doaj-art-71e130b68326481fa61d468490cf0d42 |
| institution | OA Journals |
| issn | 2468-0249 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Kidney International Reports |
| spelling | doaj-art-71e130b68326481fa61d468490cf0d422025-08-20T02:33:36ZengElsevierKidney International Reports2468-02492024-11-019113278328910.1016/j.ekir.2024.08.026Nephrologists’ Views on a Workflow for Returning Genetic Results to Research ParticipantsRobyn Weiss0Hila Milo Rasouly1Maddalena Marasa2Hilda Fernandez3Fangming Lin4Maya Sabatello5Department of Obstetrics and Gynecology, Maimonides Medical Center, Brooklyn, New York, New York, USA; Sarah Lawrence College Joan H. Marks Graduate Program in Human Genetics, Bronxville, New York, USADivision of Nephrology, Department of Medicine, Columbia University, New York, New York, USA; Correspondence: Maya Sabatello or Hila Milo Rasouly, Center for Precision Medicine and Genomics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Rm 413, New York, New York 10032.Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USADivision of Nephrology, Department of Medicine, Columbia University, New York, New York, USADivision of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, New York, USADivision of Nephrology, Department of Medicine, Columbia University, New York, New York, USA; Division of Ethics, Department of Medical Humanities and Ethics, Columbia University, New York, New York, USA; Correspondence: Maya Sabatello or Hila Milo Rasouly, Center for Precision Medicine and Genomics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Rm 413, New York, New York 10032.Introduction: Returning research-based genetic results (gRoR) to participants in nephrology research can improve care; however, the practice raises implementational questions and no established guidelines for this process currently exist. Nephrologists' views on this issue can inform the process but are understudied. Methods: We developed a conceptual workflow for gRoR from literature and experience, covering aspects such as which results to return, how, and by whom. We surveyed US nephrologists to gauge their views on the workflow and anticipated barriers and collected participants' demographics, including professional backgrounds. Results: A total of 201 adult and pediatric nephrologists completed the survey. Most of them agreed that all diagnostic kidney-related results (93%), secondary findings (80%), and kidney-related risk variants (83%) should be returned. No significant differences were found between adult and pediatric nephrologists’ responses, except that 48% of adult nephrologists versus 26% of pediatric nephrologists supported returning polygenic risk scores (PRS) (P < 0.01). Seventy-nine percent wanted to know about research results before clinical confirmation. Most of them (63%) believed a genetic counselor should return clinically confirmed results. Key barriers included the cost of clinical validation (77%) and the unavailability of genetic counseling services (63%). Facilitators included educational resources on genetic kidney diseases (91%), a referral list of experts (89%), and clear clinical care guidelines (89%). We discuss findings’ implications and provide “points to consider.” Conclusion: There is significant interest in gRoR among nephrologists; however, logistical and economic concerns need addressing. Identified facilitators can help large nephrology studies planning to return genetic results to participants.http://www.sciencedirect.com/science/article/pii/S2468024924019119barriersCLIAfacilitatorsgenetic resultskidney diseases |
| spellingShingle | Robyn Weiss Hila Milo Rasouly Maddalena Marasa Hilda Fernandez Fangming Lin Maya Sabatello Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants Kidney International Reports barriers CLIA facilitators genetic results kidney diseases |
| title | Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants |
| title_full | Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants |
| title_fullStr | Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants |
| title_full_unstemmed | Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants |
| title_short | Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants |
| title_sort | nephrologists views on a workflow for returning genetic results to research participants |
| topic | barriers CLIA facilitators genetic results kidney diseases |
| url | http://www.sciencedirect.com/science/article/pii/S2468024924019119 |
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