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Katharine Press Callahan, John Flibotte, Cara Skraban, Katherine Taylor Wild, Steven Joffe, David Munson, Chris Feudtner (2022). Influence of Genetic Information on Neonatologists’ Decisions: A Psychological Experiment. Pediatrics, 149(3), e2021052130. American Academy of Pediatrics (AAP).

Date de publication
16/02/2022
Identifiant
10.1542/peds.2021-052130
Auteurs
Katharine Press Callahan, John Flibotte, Cara Skraban, Katherine Taylor Wild, Steven Joffe, David Munson, Chris Feudtner
Source
Pediatrics
Détails
149(3), e2021052130
Type de référence
article
Éditeur
American Academy of Pediatrics (AAP)
Source de métadonnées
crossref

Résumé

BACKGROUND AND OBJECTIVES Genetic testing is expanding among ill neonates, yet the influence of genetic results on medical decision-making is not clear. With this study, we sought to determine how different types of genetic information with uncertain implications for prognosis influence clinicians’ decisions to recommend intensive versus palliative care. METHODS We conducted a national study of neonatologists using a split sample experimental design. The questionnaire contained 4 clinical vignettes. Participants were randomly assigned to see one of 2 versions that varied only regarding whether they included the following genetic findings: (1) a variant of uncertain significance; (2) a genetic diagnosis that affects neurodevelopment but not acute survival; (3) a genetic versus nongenetic etiology of equally severe pathology; (4) a pending genetic testing result. Physicians answered questions about recommendations they would make for the patient described in each vignette. RESULTS Vignette versions that included a variant of uncertain significance, a diagnosis foreshadowing neurodevelopmental impairment, or a genetic etiology of disease were all associated with an increased likelihood of recommending palliative rather than intensive care. A pending genetic test result did not have a significant effect on care recommendations. CONCLUSIONS Findings from this study of hypothetical cases suggest neonatologists apply uncertain genetic findings or those that herald neurodevelopmental disability in problematic ways. As genetic testing expands, understanding how it is used in decision-making and educating clinicians regarding appropriate use are paramount.

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