How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

Walser, Sarah A.; Werner‐Lin, Allison; Mueller, Rebecca; Miller, Victoria A.; Biswas, Sawona

doi:10.2217/pme-2017-0015

Cited by 17 publications

(24 citation statements)

References 46 publications

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“…As the level of complexity in genetic testing increases, new communicative competences may be needed to secure patients' engagement and understanding. The use of scientific jargon, technical terms, and level of details conveyed to patients may sometimes be too pronounced 28 . The focus on providing information may overshadow the equivalently important task of addressing values, hopes, and concerns 29 .…”

Section: Discussionmentioning

confidence: 99%

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

Becher

Andreasen

Sandager

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:Applying whole-exome sequencing (WES) for the diagnosis of diseases in children has shown significant diagnostic strength compared with chromosomal microarray. WES may also have the potential of adding clinically relevant prenatal information in cases where a fetus is found to have structural anomalies. We present results from the first fetal exomes performed in a tertiary center in Denmark. Material and methods: Couples/expectant parents were included in Central DenmarkRegion from July 2016 to March 2019. Inclusion was not systematic, but where one or more fetal malformations or severe fetal hydrops were detected, and a specific diagnosis had not been obtained by chromosomal microarray. WES was performed in ongoing pregnancies (N = 11), after intrauterine demise (N = 5), or after termination of pregnancy based on ultrasound findings (N = 19). In most cases, a trio format was applied comprising fetal and parental DNA.Results: WES was performed in 35 highly selected fetal cases. Pathogenic variants, or variants likely to explain the phenotype, were detected in 9/35 (26%). Variants of uncertain significance were detected in 7/35 (20%) and there was one secondary finding (3%). Out of the 11 ongoing pregnancies, four reached a genetic diagnosis (36%). Detection rate was highest in cases of multisystem anomalies (7/13, 54%).WES was completed in all three trimesters and both autosomal dominant, autosomal recessive and X-linked inheritance were revealed. Conclusions:We present data from 35 cases of exome sequencing applied in a setting of fetal malformations. Importantly, though, we wish to share our personal experiences with implementing WES into a prenatal setting. As a medical society, we must continue to share what we do not understand, what went wrong, what is difficult, and what we do not agree upon. A common understanding and language are warranted. We also advocate that more research is needed concerning the clinical value, as well as costs and patient perspectives, of using WES in pregnancy. We believe that WES will lead to improved prenatal and perinatal care. How to cite this article: Becher N, Andreasen L, Sandager P, et al. Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark. Acta Obstet Gynecol Scand. 2020;99:783-790.

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Section: Discussionmentioning

confidence: 99%

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

Becher

Andreasen

Sandager

et al. 2020

Acta Obstet Gynecol Scand

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“…This study provides evidence for a unified view of intentions for approaching informed consent for exome sequencing, although additional research is needed to understand how these intentions translate into practice. Observations from a recent study of exome result return clearly demonstrated providers’ attempts to assess patient understanding, but found misunderstandings were not fully addressed and many of these sessions defaulted to information‐heavy communication (Walser et al, ). This work may be valuable to future research as a framework for assessing concordance between the stated priorities and content of actual consent sessions.…”

Section: Discussionmentioning

confidence: 99%

“…More experience with exome sequencing may also lead to increased comfort with discussions of uncertainty and provision of anticipatory guidance prior to results disclosure. As such, counselors can help patients to frame VUS results in a productive manner as they may represent possibilities for clarity and an opportunity for partnering with the care team (Walser et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Studies of communication about genetic testing have found that professional presentation of biomedical information often dominates the interaction, leading to limited patient participation (Paul, Metcalfe, Stirling, Wilson, & Hodgson, 2015;Roter, Ellington, Erby, Larson, & Dudley, 2006). Despite clear intentions and attempts to engage patients, discussions of exome sequencing have also been shown to be dominated by providers teaching genomics (Levenseller et al, 2014;Walser et al, 2017). This pattern may explain parents' reports that pretest counseling underemphasizes discussions of the aspects of testing they value, such as how results may impact daily life (Krabbenborg et al, 2016).…”

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confidence: 99%

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Challenges to informed consent for exome sequencing: A best–worst scaling experiment

Gore

Bridges

Cohen

et al. 2019

Journal of Genetic Counseling

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As exome sequencing expands as a diagnostic tool, patients and providers have voiced concerns about communicating the breadth and scope of potential results when obtaining informed consent. This study aimed to understand how genetic counselors prioritize essential components of the informed consent process and whether counselor factors influence these decisions. Development of a best–worst scaling experiment was informed by a systematic literature review and two focus groups. In all, 11 choice sets were created using a balanced incomplete block design, where participants selected the most and least important object in each set. Mean best–worst (BW) scores were calculated to summarize the relative importance of each object, and mediation analyses assessed whether responses were associated with genetic counselor factors and attitudes. In all, 342 members of the National Society of Genetic Counselors completed the online survey. Ranking of BW scores suggests that participants prioritize collaborative decision‐making, assessing understanding and managing expectations, with the least emphasis placed on discussing technological complexities. Stratified analyses found that counselors more experienced with obtaining informed consent for exome sequencing and those reporting higher perceptions of patients’ ability to manage information rated discussing variants of uncertain significance as significantly more important (p < .05). Our results suggest that genetic counselors report intentions to prioritize individual patient needs when obtaining informed consent for exome sequencing. Professional characteristics and attitudes may influence preemptive discussion of uncertain results.

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“…Details can be prioritized with information that patients are most interested in, such as management and next steps regarding their conditions. 28 Different forms of media such as videos and illustrations can be also utilized to make information easier to understand for diverse consumers. We propose that text readability could be improved in a scalable, automated fashion using NLP tools and public databases.…”

Section: Discussionmentioning

confidence: 99%

Optimizing genetics online resources for diverse readers

Chang

Penón-Portmann

Shieh

2020

Genetics in Medicine

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Purpose: Clear and accurate genetic information should be available to health-care consumers at an individualized level of comprehension. The objective of this study is to evaluate the complexity of common online resources and to simplify text content using automated text processing tools. Methods: We extracted all text from Genetics Home Reference and MedlinePlus in bulk and analyzed content using natural language processing. We applied custom tools to improve the readability and compared readability before and after text optimization. Results: Commonly used educational materials were more complex than the recommended reading level for the general public. Genetic health information entries from Genetics Home Reference (n = 1279) were written at a median 13.0 grade level. MedlinePlus entries, which are not exclusively genetic (n = 1030), had a median grade level of 7.7. When we optimized text for the 59 actionable conditions by prioritizing medical details using a standard structure, the average reading grade level improved. Conclusion: Factors that increase complexity are long sentences and difficult words. Future strategies to reduce complexity include prioritizing relevant details and using more illustrations. Simplifying and providing standardized online health resources would benefit diverse consumers and promote inclusivity.

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How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

Cited by 17 publications

References 46 publications

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

Challenges to informed consent for exome sequencing: A best–worst scaling experiment

Optimizing genetics online resources for diverse readers

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