Understanding perspectives of safety-net NICU neonatologists disclosing genomic sequencing results: a mixed methods approach.

IF 2.4 3区医学 Q2 OBSTETRICS & GYNECOLOGY

Journal of Perinatology Pub Date : 2026-05-05 DOI:10.1038/s41372-026-02655-4

Sonia Hills, Meghan Werner, Jessica Douglas, Alissa M D'Gama, Monica H Wojcik, Vanessa Young, Timothy W Yu, Pankaj B Agrawal, Margaret G Parker

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引用次数: 0

Abstract

Objective: Examine neonatologists' perspectives on disclosing rapid genomic sequencing (rGS) results, including the barriers and facilitators they perceive.

Study design: Neonatologists from 10 NICUs participating in the Virtual Genome Center (VIGOR) study were surveyed after each rGS disclosure and interviewed regarding their experience after 2 or more disclosures. Quantitative results were compared by result type, and qualitative results were iteratively coded for themes.

Results: 93% of neonatologists felt comfortable disclosing rGS results regardless of result type. Neonatologists utilized multiple resources to prepare for disclosures, including the VIGOR Clinical Interpretive Report, medical literature, and local genetics experts. They preferred to have a geneticist present during disclosure when possible. Neonatologists were motivated to participate in disclosures to help families and leverage existing trust.

Conclusion: Neonatologists are important to the rGS disclosure experience, but a joint effort with genetics experts may be the ideal model to successfully expand access.

Trial registration number: NCT05205356/clinicaltrials.gov .

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了解安全网新生儿重症监护病房医生披露基因组测序结果的观点：混合方法方法。

目的：探讨新生儿医师对快速基因组测序（rGS）结果披露的看法，包括他们认为的障碍和促进因素。研究设计：参与虚拟基因组中心（VIGOR）研究的10名新生儿重症监护病房的新生儿医生在每次rGS披露后接受调查，并就两次或两次以上披露后的经历进行访谈。定量结果按结果类型进行比较，定性结果按主题进行迭代编码。结果：无论结果类型如何，93%的新生儿医师对披露rGS结果感到满意。新生儿学家利用多种资源准备披露，包括VIGOR临床解释报告、医学文献和当地遗传学专家。在可能的情况下，他们更希望有遗传学家在场。新生儿科医生积极参与信息披露，以帮助家庭并利用现有的信任。结论：新生儿学家对rGS信息披露经验很重要，但与遗传学专家的共同努力可能是成功扩大信息获取的理想模式。试验注册号：NCT05205356/clinicaltrials.gov。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Perinatology 医学-妇产科学

CiteScore

5.40

自引率

6.90%

发文量

284

审稿时长

3-8 weeks

期刊介绍： The Journal of Perinatology provides members of the perinatal/neonatal healthcare team with original information pertinent to improving maternal/fetal and neonatal care. We publish peer-reviewed clinical research articles, state-of-the art reviews, comments, quality improvement reports, and letters to the editor. Articles published in the Journal of Perinatology embrace the full scope of the specialty, including clinical, professional, political, administrative and educational aspects. The Journal also explores legal and ethical issues, neonatal technology and product development. The Journal’s audience includes all those that participate in perinatal/neonatal care, including, but not limited to neonatologists, perinatologists, perinatal epidemiologists, pediatricians and pediatric subspecialists, surgeons, neonatal and perinatal nurses, respiratory therapists, pharmacists, social workers, dieticians, speech and hearing experts, other allied health professionals, as well as subspecialists who participate in patient care including radiologists, laboratory medicine and pathologists.