Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education.

IF 2.6 3区医学 Q1 PEDIATRICS Pediatric Nephrology Pub Date : 2025-03-01 Epub Date: 2024-10-09 DOI:10.1007/s00467-024-06539-7

Hilda E Fernandez, Marissa Lipton, Olivia Balderes, Fangming Lin, Maddalena Marasa, Hila Milo Rasouly, Maya Sabatello

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Abstract

Background: While genetic testing is now more accessible in pediatric nephrology, little is known about the views of pediatric nephrologists regarding genetic testing in clinical settings.

Methods: An online 41-item survey was developed and distributed via professional listservs to self-identified U.S. licensed pediatric nephrologists from January 22 to May 4, 2021.

Results: Pediatric nephrologists had a high referral rate to genetic counseling and agreed on the significant impact of genetic testing on diagnosis, treatment, prognosis, counseling, and kidney transplant planning. Challenges for the utilization of genetic testing among pediatric nephrologists include the need to (1) learn how to counsel patients on the risks and benefits of genetic testing, (2) choose appropriate testing, (3) interpret genetic results, and (4) return those results to patients and families.

Conclusion: There exists an opportunity to expand genetic testing education for pediatric nephrologists to assist incorporation of genetic testing into clinical practice.

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儿科肾病专家对基因检测和教育的看法及临床实践。

背景：虽然基因检测在小儿肾脏病学中越来越普及，但小儿肾脏病学家对临床环境中基因检测的看法却鲜为人知：方法：2021 年 1 月 22 日至 5 月 4 日，我们开发了一项包含 41 个项目的在线调查，并通过专业邮件列表向自我认定的美国持证儿科肾病学家发放：结果：儿科肾病专家的遗传咨询转诊率很高，他们一致认为基因检测对诊断、治疗、预后、咨询和肾移植计划有重大影响。儿科肾病专家在利用基因检测方面面临的挑战包括：需要（1）学习如何就基因检测的风险和益处为患者提供咨询；（2）选择适当的检测；（3）解释基因检测结果；以及（4）将结果反馈给患者和家属：结论：现在有机会扩大对儿科肾病专家的基因检测教育，以协助将基因检测纳入临床实践。

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

Pediatric Nephrology 医学-泌尿学与肾脏学

CiteScore

4.70

自引率

20.00%

发文量

465

审稿时长

1 months

期刊介绍： International Pediatric Nephrology Association Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.