Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa.
Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa.
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父母和提供者对非洲裂隙家庭基因组发现返回的看法。
DOI：
10.1080/23294515.2024.2302993
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发表时间：
2024
影响因子：
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通讯作者：
Butali,Azeez
中科院分区：
文献类型：
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作者：
Oladayo,AbimbolaM;Prochaska,Sydney;Busch,Tamara;Adeyemo,WasiuL;Gowans,LordJJ;Eshete,Mekonen;Awotoye,Waheed;Sule,Veronica;Alade,Azeez;Adeyemo,AdebowaleA;Mossey,PeterA;Prince,Anya;Murray,JeffreyC;Butali,Azeez
背景：卫生保健提供者（HCP）和受影响儿童的父母之间的知识不足，限制了对基因组学研究中代表性不足的人群中次级遗传学发现（SF）的理解和利用。SF来自用于研究或诊断目的的深度DNA测序，尽管其潜在的健康重要性，但可能会给患者及其家人带来负担。本研究旨在评估两组关于SF的观点以及他们在口面裂背景下基因检测结果返回的选择。我们评估了加纳和尼日利亚的252名HCP和197名父母在参与唇腭裂诊所的经验，他们在几个领域对SF的回归进行了评估。的HCP认为他们对何时以及如何将基因组医学纳入实践有专业的理解，而50.0%的HCP同意所有SF应返回给患者。约95.4%的父母愿意接受所有的信息从基因检测（包括SF），而大多数引用医生作为他们的主要信息来源（64%）。ConclusionsOverall，父母和供应商都知道，基因检测可以帮助疾病的临床管理。然而，他们认为缺乏基因组医学知识，临床效用不确定，缺乏可用的学习资源是障碍。从这项研究中获得的知识将有助于制定指导方针和政策，以指导撒哈拉以南非洲和整个非洲大陆的供应商返回SF。
BackgroundInadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding and utility of secondary genetic findings (SFs) in under-represented populations in genomics research. SFs arise from deep DNA sequencing done for research or diagnostic purposes and may burden patients and their families despite their potential health importance. This study aims to evaluate the perspective of both groups regarding SFs and their choices in the return of results from genetic testing in the context of orofacial clefts.MethodsUsing an online survey, we evaluated the experiences of 252 HCPs and 197 parents across participating cleft clinics in Ghana and Nigeria toward the return of SFs across several domains.ResultsOnly 1.6% of the HCPs felt they had an expert understanding of when and how to incorporate genomic medicine into practice, while 50.0% agreed that all SFs should be returned to patients. About 95.4% of parents were willing to receive all the information from genetic testing (including SFs), while the majority cited physicians as their primary information source (64%).ConclusionsOverall, parents and providers were aware that genetic testing could help in the clinical management of diseases. However, they cited a lack of knowledge about genomic medicine, uncertain clinical utility, and lack of available learning resources as barriers. The knowledge gained from this study will assist with developing guidelines and policies to guide providers on the return of SFs in sub-Saharan Africa and across the continent.