儿科肾病专家对基因检测及相关教育的观点和临床实践
Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education.
作者信息
Fernandez Hilda E, Lipton Marissa, Balderes Olivia, Lin Fangming, Marasa Maddalena, Milo Rasouly Hila, Sabatello Maya
机构信息
Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, NY, USA.
出版信息
Pediatr Nephrol. 2025 Mar;40(3):755-763. doi: 10.1007/s00467-024-06539-7. Epub 2024 Oct 9.
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.
背景
虽然基因检测在儿科肾脏病学中现在更容易获得，但对于儿科肾脏病学家在临床环境中对基因检测的看法知之甚少。
方法
2021年1月22日至5月4日，通过专业邮件列表开发并分发了一份包含41个条目的在线调查问卷，对象是自我认定的美国执业儿科肾脏病学家。
结果
儿科肾脏病学家对遗传咨询的转诊率很高，并认同基因检测对诊断、治疗、预后、咨询和肾脏移植规划有重大影响。儿科肾脏病学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）选择合适的检测，（3）解读基因检测结果，以及（4）将这些结果反馈给患者和家属。
结论
有机会为儿科肾脏病学家扩大基因检测教育，以帮助将基因检测纳入临床实践。
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