Hadley Stevens Smith1,2, Heidi V Russell2,3,4, Brendan H Lee5, Stephanie R Morain2. 1. Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA. 2. Baylor College of Medicine, Center for Medical Ethics and Health Policy, Houston, TX, USA. 3. Baylor College of Medicine, Department of Pediatrics, Houston, TX, USA. 4. Texas Children's Hospital, Houston, TX, USA. 5. Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA. blee@bcm.edu.
Abstract
PURPOSE: Information obtained from clinical exome sequencing (ES) may impact clinical care or other aspects of a patient's life. Little is known about clinicians' perceptions regarding either the value of ES results or which among various outcomes are most relevant to determine value. This study aims to assess clinicians' opinions of the importance of ES results for medical decision making and identify a set of outcomes to be measured in future ES evaluations. METHODS: Expert opinion regarding the value of remarkable (diagnostic/positive) and unremarkable (nondiagnostic/negative) ES results was elicited via the Delphi method, consisting of two survey rounds and a teleconference. Participants had expertise in caring for clinically diverse infants and children with suspected underlying genetic etiologies. Descriptive statistics and (dis)agreement were calculated for each survey item. RESULTS: Remarkable ES results were considered important for 17 outcome domains. Unremarkable ES results were also perceived as important in terms of psychological impact and ability to inform follow-up diagnostic test decisions. CONCLUSION: Clinicians regard remarkable ES results as more important in many ways than findings from other diagnostic modalities. Unremarkable ES results were not considered unimportant for decision making, but rather uncertain in most outcome domains.
PURPOSE: Information obtained from clinical exome sequencing (ES) may impact clinical care or other aspects of a patient's life. Little is known about clinicians' perceptions regarding either the value of ES results or which among various outcomes are most relevant to determine value. This study aims to assess clinicians' opinions of the importance of ES results for medical decision making and identify a set of outcomes to be measured in future ES evaluations. METHODS: Expert opinion regarding the value of remarkable (diagnostic/positive) and unremarkable (nondiagnostic/negative) ES results was elicited via the Delphi method, consisting of two survey rounds and a teleconference. Participants had expertise in caring for clinically diverse infants and children with suspected underlying genetic etiologies. Descriptive statistics and (dis)agreement were calculated for each survey item. RESULTS: Remarkable ES results were considered important for 17 outcome domains. Unremarkable ES results were also perceived as important in terms of psychological impact and ability to inform follow-up diagnostic test decisions. CONCLUSION: Clinicians regard remarkable ES results as more important in many ways than findings from other diagnostic modalities. Unremarkable ES results were not considered unimportant for decision making, but rather uncertain in most outcome domains.
Entities:
Keywords:
clinical genetic/genomic interventions; clinician opinion; coverage and reimbursement; outcomes analysis; value assessment
Authors: Hadley Stevens Smith; Kyle B Brothers; Sara J Knight; Sara L Ackerman; Christine Rini; David L Veenstra; Amy L McGuire; Benjamin S Wilfond; Janet Malek Journal: Am J Hum Genet Date: 2021-10-22 Impact factor: 11.025
Authors: Hadley Stevens Smith; Stephanie R Morain; Jill Oliver Robinson; Isabel Canfield; Janet Malek; Caryn Kseniya Rubanovich; Cinnamon S Bloss; Sara L Ackerman; Barbara Biesecker; Kyle B Brothers; Crispin N Goytia; Carol R Horowitz; Sara J Knight; Barbara Koenig; Stephanie A Kraft; Simon Outram; Christine Rini; Kelly J Shipman; Margaret Waltz; Benjamin Wilfond; Amy L McGuire Journal: Patient Date: 2021-10-18 Impact factor: 3.481
Authors: Jasmine L F Fung; Mullin H C Yu; Shushu Huang; Claudia C Y Chung; Marcus C Y Chan; Sander Pajusalu; Christopher C Y Mak; Vivian C C Hui; Mandy H Y Tsang; Kit San Yeung; Monkol Lek; Brian H Y Chung Journal: NPJ Genom Med Date: 2020-09-10 Impact factor: 8.617
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