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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

ABSTRACT: Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re-analysis, protocols, multidisciplinary teams, genetic counselling, whether to limit the possible scope of results, and when to report particular findings. This systematic review helps provide a vocabulary for uncertainties, and a compass to navigate uncertainties. Prenatal CMA and ES guidelines provide a strong starting point for determining how to handle uncertainty. Gaps in guidelines and recommendations were identified and discussed to provide direction for future research and policy making.

SUBMITTER: Klapwijk JE

PROVIDER: S-EPMC8596644 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

Klapwijk Jasmijn E JE Srebniak Malgorzata I MI Go Attie T J I ATJI Govaerts Lutgarde C P LCP Lewis Celine C Hammond Jennifer J Hill Melissa M Lou Stina S Vogel Ida I Ormond Kelly E KE Diderich Karin E M KEM Brüggenwirth Hennie T HT Riedijk Sam R SR

Clinical genetics 20210630 6

Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten ...[more]

PMID: 34155632

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Project description:BackgroundNudge interventions are those that seek to modify the social and physical environment to enhance capacity for subconscious behaviours that align with the intrinsic values of an individual, without actively restricting options. This study sought to describe the application and effects of nudge strategies on clinician implementation of health-related guidelines, policies and practices within studies included in relevant Cochrane systematic reviews.MethodsAs there is varied terminology used to describe nudge, this study examined studies within relevant systematic reviews. A two-stage screening process was undertaken where, firstly, all systematic reviews published in the Cochrane Library between 2016 and 2018 were screened to identify reviews that included quantitative studies to improve implementation of guidelines among healthcare providers. Secondly, individual studies within relevant systematic reviews were included if they were (i) randomised controlled trials (RCTs), (ii) included a nudge strategy in at least one intervention arm, and (iii) explicitly aimed to improve clinician implementation behaviour. We categorised nudge strategies into priming, salience and affect, default, incentives, commitment and ego, and norms and messenger based on the Mindspace framework.SynthesisThe number and percentage of trials using each nudge strategy was calculated. Due to substantial heterogeneity, we did not undertake a meta-analysis. Instead, we calculated within-study point estimates and 95% confidence intervals, and used a vote-counting approach to explore effects.ResultsSeven reviews including 42 trials reporting on 57 outcomes were included. The most common nudge strategy was priming (69%), then norms and messenger (40%). Of the 57 outcomes, 86% had an effect on clinician behaviour in the hypothesised direction, and 53% of those were statistically significant. For continuous outcomes, the median effect size was 0.39 (0.22, 0.45), while for dichotomous outcomes the median Odds Ratio was 1.62 (1.13, 2.76).ConclusionsThis review of 42 RCTs included in Cochrane systematic reviews found that the impact of nudge strategies on clinician behaviour was at least comparable to other interventions targeting implementation of evidence-based guidelines. While uncertainty remains, the review provides justification for ongoing investigation of the evaluation and application of nudge interventions to support provider behaviour change.Trial registrationThis review was not prospectively registered.

Project description:Purpose This systematic review aimed to analyze the characteristics of different diagnostic techniques for micrognathia, summarize the consistent diagnostic criteria of each technique, and provide a simple and convenient prenatal diagnosis strategy for micrognathia. Methods In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, the search was undertaken in three international databases (PubMed, Scopus, and Web of Science). The three reviewers assessed all papers and extracted the following variables: author's name and year of publication, country, study design, number of participants, gestational age, equipment for prenatal examination, biometric parameters related to micrognathia, main results. Results A total of 25 articles included in the analysis. Nineteen articles described cross-sectional studies (76 percent), 4 (16 percent) were case-control studies, and 2 (8 percent) were cohort studies. Fifteen studies (60 percent) had a prospective design, 9 (36 percent) had a retrospective design, and one (4 percent) had both prospective and retrospective design. Thirty-two percent of the studies (n = 8) were performed in USA, and the remaining studies were performed in China (n = 4), Israel (n = 3), Netherlands (n = 3), UK (n = 1), France (n = 1), Italy (n = 1), Belgium(n = 1), Germany (n = 1), Spain (n = 1), and Austria (n = 1). The prenatal diagnosis of micrognathia can be performed as early as possible in the first trimester, while the second and third trimester of pregnancy were the main prenatal diagnosis period. The articles that were included in the qualitative synthesis describe 30 biometric parameters related to the mandible. Conclusion Of the 30 biometric parameters related to the mandible, 15 can obtain the simple and convenient diagnostic criteria or warning value for micrognathia. Based on these diagnostic criteria or warning value, clinicians can quickly make a preliminary judgment on facial deformities, to carry out cytologic examination to further clarify the diagnosis of micrognathia.

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

Publications

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

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