探索肥胖症罕见疾病的基因检测:儿科体重管理提供者的经验和观点。

IF 1.5 4区 医学 Q2 PEDIATRICS Childhood Obesity Pub Date : 2024-10-01 Epub Date: 2024-01-08 DOI:10.1089/chi.2023.0125
Karyn J Roberts, Eileen Chaves, Adolfo J Ariza, Vidhu V Thaker, Chi C Cho, Helen J Binns
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引用次数: 0

摘要

背景:本研究描述了儿科体重管理(PWM)服务提供者在实施罕见肥胖病因基因检测方面的经验和观点。方法:通过电子邮件有目的和滚雪球式抽样,招募体重管理服务提供者完成一份包含 23 个问题的调查问卷,其中有多项选择题和开放式问题。分析方法包括描述性统计、费雪精确检验、单因素方差分析和 Tukey 后检验以及定性分析。结果:在 55 位受访者中,80% 的受访者表示订购了基因检测。受访者主要是从业 11-20 年的医生(82.8%)(42%),女性(80%)、白人(76.4%)、非西班牙裔(92.7%),每周提供 1-4 次半天的公共卫生运动护理。经常报告的促使进行测试的患者特征并不因提供者的工作年限(YOE)而异。这些特征包括 6 岁前开始肥胖、多食、面部畸形和发育迟缓。促使进行检测的患者特征数量因工作年限而异(p = 0.03);工作年限在 6-10 年的受访者比工作年限在 20 年以上的受访者指出了更多的患者特征(平均 10.3 对平均 6.2)。据报告,检测的主要好处是为患者/家属提供健康信息;主要缺点是不确定检测的数量较多。受访者所表达的伦理方面的担忧是担心增加体重耻辱感、歧视以及对保险范围的影响。受访者(42%)希望在解释结果和为患者及家属提供咨询方面得到培训和指导。结论:大多数妇幼保健服务提供者称基因检测是患者管理的一种选择。下一步应考虑对提供者进行遗传学/基因组学方面的培训,并研究提供者和家庭对肥胖遗传学的态度以及基因检测的价值。
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Exploring Genetic Testing for Rare Disorders of Obesity: Experience and Perspectives of Pediatric Weight Management Providers.

Background: This study describes experiences and perspectives of pediatric weight management (PWM) providers on the implementation of genetic testing for rare causes of obesity. Methods: Purposive and snowball sampling recruited PWM providers via email to complete a 23-question survey with multiple choice and open-ended questions. Analyses include descriptive statistics, Fisher's exact test, one-way ANOVA with Tukey's post hoc test, and qualitative analysis. Results: Of the 55 respondents, 80% reported ordering genetic testing. Respondents were primarily physicians (82.8%) in practice for 11-20 years (42%), identified as female (80%), White (76.4%), and non-Hispanic (92.7%) and provided PWM care 1-4 half day sessions per week. Frequently reported patient characteristics that prompted testing did not vary by provider years of experience (YOE). These included obesity onset before age 6, hyperphagia, dysmorphic facies, and developmental delays. The number of patient characteristics that prompted testing varied by YOE (p = 0.03); respondents with 6-10 YOE indicated more patient characteristics than respondents with >20 YOE (mean 10.3 vs. mean 6.2). The reported primary benefit of testing was health information for patients/families; the primary drawback was the high number of indeterminate tests. Ethical concerns expressed were fear of increasing weight stigma, discrimination, and impact on insurance coverage. Respondents (42%) desired training and guidance on interpreting results and counseling patients and families. Conclusions: Most PWM providers reported genetic testing as an option for patient management. Provider training in genetics/genomics and research into provider and family attitudes on the genetics of obesity and the value of genetic testing are next steps to consider.

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来源期刊
Childhood Obesity
Childhood Obesity PEDIATRICS-
CiteScore
4.70
自引率
8.00%
发文量
95
期刊介绍: Childhood Obesity is the only peer-reviewed journal that delivers actionable, real-world obesity prevention and weight management strategies for children and adolescents. Health disparities and cultural sensitivities are addressed, and plans and protocols are recommended to effect change at the family, school, and community level. The Journal also reports on the problem of access to effective healthcare and delivers evidence-based solutions to overcome these barriers.
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