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Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors.

ABSTRACT: Genomic sequencing (GS), such as whole genome and exome sequencing, is rapidly being integrated into pediatric critical care settings. Results are being used to make high impact decisions including declarations of futility, withdrawal of care, and rationing of scarce resources. In this qualitative study, we conducted interviews with clinicians involved in the care of critically ill children with congenital heart disease (CHD) to investigate their views on implementation of GS into clinical practice. Interviews were transcribed and inductively analyzed for major themes using grounded theory and thematic analysis. Three major themes emerged surrounding the use of genomic information in the high-stakes, time pressured decision making that characterizes clinical care of critically ill children with CHD: (a) that clinicians felt they did not have sufficient training to accurately assess genetic results despite pressure to incorporate results into clinical decisions; (b), that they desire knowledge support from genetic specialists, such as genetic counselors, who both understand the critical care context and are available within the time constraints of critical care clinical pressures; and (c), that clinicians feel a pressing need for increased genetics education to be able to safely and appropriately incorporate GS results into clinical decisions Our data suggest that genetics specialists may need a stronger presence in the pediatric critical care setting.

SUBMITTER: Deuitch N

PROVIDER: S-EPMC7012679 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors.

Deuitch Natalie N Soo-Jin Lee Sandra S Char Danton D

Journal of genetic counseling 20191107 1

Genomic sequencing (GS), such as whole genome and exome sequencing, is rapidly being integrated into pediatric critical care settings. Results are being used to make high impact decisions including declarations of futility, withdrawal of care, and rationing of scarce resources. In this qualitative study, we conducted interviews with clinicians involved in the care of critically ill children with congenital heart disease (CHD) to investigate their views on implementation of GS into clinical pract ...[more]

PMID: 31701594

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Project description:Bullying is reported in around 20% of children according to the US Department of Education and has been reported in the histories of individuals with genetic disorders. To our knowledge, there has never been a study surveying whether genetic counselors screen their pediatric patients for bullying. This is despite guidelines that pediatric healthcare providers should screen for bullying. The purpose of this study was to assess North American genetic counselors who see pediatric patients and enquire about their practices, attitudes, self-confidence, knowledge, and potential training needs in relation to bullying screening. In an anonymous online survey, 139 genetic counselors from the United States and Canada completed a modified version of the previously validated Healthcare Providers Practices, Attitudes, Self-Confidence, and Knowledge (HCP-PACK) instrument. Among our participant population, 85% reported they did not screen for bullying. This is despite no statistically significant difference in the amount of reported time spent on either initial or follow-up appointments between those who did or did not screen. Those who screened for bullying among their pediatric patients were more likely to view bullying as a healthcare problem (as measured on the attitude subscale) (t[135] = -2.07, p = 0.04) and had greater confidence in their ability to know how to assess for bullying (as measured on the self-confidence subscale) (t[135] = -2.90, p = 0.004) compared with participants who did not screen for bullying. Responses from genetic counselors who screened their patients for bullying demonstrated how screening for bullying can be aligned with the American Board of Genetic Counseling practice-based competencies. Even though the majority of participants did not view screening for bullying as a genetic counselor's role, 82.5% agreed that bullying was a healthcare problem and 63.6% thought genetic counselors should have additional educational opportunities to learn about bullying. Evidence-based guidance is needed to help genetic counselors interested in including screening for bullying in their practice.

Project description:PurposeEngaging primary care providers (PCPs) in BRCA1/2 testing and results disclosure would increase testing access. The BRCA Founder OutReach (BFOR) study is a prospective study of BRCA1/2 founder mutation screening among individuals of Ashkenazi Jewish descent that sought to involve participants' PCPs in results disclosure. We used quantitative and qualitative methods to evaluate PCPs' perspectives, knowledge, and experience disclosing results in BFOR.MethodsAmong PCPs nominated by BFOR participants to disclose BRCA1/2 results, we assessed the proportion agreeing to disclose. To examine PCP's perspectives, knowledge, and willingness to disclose results, we surveyed 501 nominated PCPs. To examine PCPs' experiences disclosing results in BFOR, we surveyed 101 PCPs and conducted 10 semi-structured interviews.ResultsIn the BFOR study overall, PCPs agreed to disclose their patient's results 40.5% of the time. Two hundred thirty-four PCPs (46.7%) responded to the initial survey. Responding PCPs were more likely to agree to disclose patients' results than non-responders (57.3% vs. 28.6%, p<0.001). Among all respondents, most felt very (19.7%) or somewhat (39.1%) qualified to share results. Among PCPs declining to disclose, insufficient knowledge was the most common reason. In multivariable logistic regression, feeling qualified was the only variable significantly associated with agreeing to disclose results (OR 6.53, 95% CI 3.31, 12.88). In post-disclosure surveys (response rate=55%), PCPs reported largely positive experiences. Interview findings suggested that although PCPs valued the study-provided educational materials, they desired better integration of results and decision support into workflows.ConclusionBarriers exist to incorporating BRCA1/2 testing into primary care. Most PCPs declined to disclose their patients' BFOR results, although survey respondents were motivated and had positive disclosure experiences. PCP training and integrated decision support could be beneficial.Trial registrationClinicalTrials.gov (NCT03351803), November 24, 2017.

Dataset Information

Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors.

Publications

Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors.

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