Diagnostic uncertainties, ethical tensions, and accounts of role responsibilities in genetic counseling communication

Hammerstad, Gøril Thomassen; Sarangi, Srikant; Bjørnevoll, Inga

doi:10.1002/jgc4.1282

Cited by 9 publications

(4 citation statements)

References 48 publications

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“…These factors may lead to additional stress and frustration for both clinicians and patients 34 . Clear communication and setting expectations in pre and post‐test counseling can improve the experience and foster informed decision‐making 35–37 …”

Section: Discussionmentioning

confidence: 99%

Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results

et al. 2022

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Objective: To determine which types of fetal anomalies are associated with postnatal diagnoses of genetic diseases by genomic sequencing and to assess how prenatal genomic sequencing could affect clinical management. Method:This was a secondary analysis of the second Newborn Sequencing in Genomic Medicine and Public Health study that compared fetal imaging results in critically ill infants who had actionable versus negative postnatal genomic sequencing results.Results: Of 213 infants who received genomic sequencing, 80 had available prenatal ultrasounds. Twenty-one (26%) of these were found to have genetic diseases by genomic sequencing. Fourteen (67%) of the 21 with genetic diseases had suspected anomalies prenatally, compared with 33 (56%) of 59 with negative results. Among fetuses with suspected anomalies, genetic diseases were 4.5 times more common in those with multiple anomalies and 6.7 times more common in those with anomalies of the extremities compared to those with negative results. Had the genetic diseases been diagnosed prenatally, clinical management would have been altered in 13 of 14. Conclusion:Critically ill infants with diagnostic genomic sequencing were more likely to have multiple anomalies and anomalies of the extremities on fetal imaging.Among almost all infants with suspected fetal anomalies and diagnostic genomic sequencing results, prenatal diagnosis would have likely altered clinical management. Key pointsWhat's already known about this topic? � Diagnostic yield for prenatal genetic testing varies by type of anomaly suspected.� Genomic sequencing can inform management of critically ill neonates.

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Section: Discussionmentioning

confidence: 99%

Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results

et al. 2022

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“…In this paper, we draw on theme‐oriented discourse analytic approach (TODA) (Roberts & Sarangi, 2005), which has been widely employed in previous empirical research on communication in genetic counseling and other healthcare settings (Hammerstad et al., 2020; Sarangi, 2010; Shipman et al., 2014; Zayts et al., 2019; Zayts‐Spence et al., 2021). The focal theme of investigation in this study is elicitation of children's understanding of genetic information.…”

Section: Methodsmentioning

confidence: 99%

“…Through repeated readings of the transcripts of the interactions (Roberts & Sarangi, 2005), the first and the second authors identified key junctures in the interactions where elicitations of children's understanding of provided information occurred. Following that, the first and the second authors examined recurrent communicative strategies employed by the counselors to elicit children's understanding (Hammerstad et al., 2020; Sarangi, 2010). The first and the second author worked independently and then checked the identified junctures in the interactions and the strategies for congruence.…”

Section: Methodsmentioning

confidence: 99%

Elicitation of children’s understanding of information in pediatric genetic counseling encounters: A discourse‐oriented perspective

Hui

Zayts‐Spence

Chung

2021

Journal of Genetic Counseling

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Affirmation of children's understanding of information provided in genetic counseling encounters is crucial to obtaining children's informed consent/assent in pediatric genetic counseling encounters. It is also important for the proper management of a genetic condition. Currently, there is a relative scarcity of research on how understanding of complex genetic information by children is elicited in the process of pediatric genetic counseling. In this study, we apply theme‐oriented discourse analysis to examine 23 video/audio‐recorded genetic counseling encounters in Hong Kong. The encounters involve children aged between 3 and 17 years old who are suspected to have or diagnosed with Sudden Arrhythmic Death Syndrome (SADS). Specifically, we examine a range of communicative strategies that genetic professionals employ to elicit children's understanding of information in this genetic counseling setting. We also examine how children's epistemic status is negotiated between genetic professionals, parents, and children. The study reveals that genetic professionals typically use direct questioning (e.g., “do you understand?” or “do you have any questions?”). Less typical are examples where genetic professionals explore children's epistemic access and invite children to recall information after they deliver it. The study reveals two discourse strategies that genetic professionals and parents employ to justify a child's low epistemic status: (1) construction of “current ignorance” and “future competence” in children and (2) association with a child's character. In the examined counseling encounters, genetic professionals and parents tend to construct a low epistemic status in younger children and allocate the responsibility for understanding relevant information to the parents and the “future” competent children. The study highlights the impact of genetic professionals’ and parents’ assumptions on children's knowledge and comprehensibility at different ages, and the role that children themselves play in conforming or contesting these assumptions.

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“…Así, los rasgos característicos de cada raza se heredan con ciertos grados de variación entre individuos, sin embargo, la genética de cada población también está sujeta a factores que la modifican, como la selección natural, las mutaciones y los polimorfismos (36). De esta forma, las diferencias biológicas entre los seres humanos pueden estar condicionadas por la interacción entre el genoma y el ambiente (37).…”

Section: Persona Libertad Y Responsabilidadunclassified

Análisis bioético del uso de la biotecnología genómica en la nutrición traslacional

Garza

Zonenszain-Laiter

2023

pers. bioet

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Los avances de la biotecnología y las fascinantes perspectivas de la genómica nutricional en el escenario de la práctica clínica conducen a la consideración de distintos aspectos que impactan en el beneficio integral del ser humano. En ese sentido, la integración de la nutrición personalizada en la atención clínica requiere de un análisis bioético centrado en la unidad de la persona que, con base en su perfil nutrigenético único, contribuya al cuidado de la salud por medio del tratamiento nutricional individualizado. El análisis bioético contempla los principios de totalidad terapéutica, libertad e integridad. Además, el uso de las pruebas nutrigenéticas destaca no solo la confidencialidad de datos, que se presupone, sino que lleva a considerar el derecho a la intimidad.

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Diagnostic uncertainties, ethical tensions, and accounts of role responsibilities in genetic counseling communication

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 9 publications

References 48 publications

Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results

Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results

Elicitation of children’s understanding of information in pediatric genetic counseling encounters: A discourse‐oriented perspective

Análisis bioético del uso de la biotecnología genómica en la nutrición traslacional

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