Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.
Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.
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DOI：
10.1038/gim.2016.7
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发表时间：
2016-11
影响因子：
8.8
通讯作者：
Hull, Sara Chandros
中科院分区：
文献类型：
--
作者：
Koretzky, Maya;Bonham, Vence L.;Berkman, Benjamin E.;Kruszka, Paul;Adeyemo, Adebowale;Muenke, Maximilian;Hull, Sara Chandros
医疗保健专业人员用来帮助诊断遗传综合征的畸形学教科书（或图册）中存在着重要的空白。现有图谱中缺乏不同的表型图像限制了这些图谱作为全球多样化人群的诊断工具的实用性，导致遗传学家难以诊断可能表现出不同形态特征的不同祖先背景的个体的状况。解决现有地图集中来自不同人群的图像不足的问题的建议可以利用互联网和数字摄影来创建新的资源，考虑到受遗传疾病影响的人群的广泛全球多样性。创建更能代表全球人口的地图集将扩大可用于护理患有这些疾病的不同患者的资源，其中许多患者历来得不到医疗系统的服务。然而，此类项目也引发了伦理问题，这些问题植根于图像、医学、历史以及种族和民族的复杂交叉。我们在这里考虑生产这种资源的好处，同时也考虑伦理和实际问题，并且我们为临床诊断的多样化形态图谱的伦理创建、结构、公平使用和维护提供建议。
An important gap exists in textbooks (or atlases) of dysmorphology used by health-care professionals to help diagnose genetic syndromes. The lack of varied phenotypic images in available atlases limits the utility of these atlases as diagnostic tools in globally diverse populations, causing geneticists difficulty in diagnosing conditions in individuals of different ancestral backgrounds who may present with variable morphological features. Proposals to address the underinclusion of images from diverse populations in existing atlases can take advantage of the Internet and digital photography to create new resources that take into account the broad global diversity of populations affected by genetic disease. Creating atlases that are more representative of the global population will expand resources available to care for diverse patients with these conditions, many of whom have been historically underserved by the medical system. However, such projects also raise ethical questions that are grounded in the complex intersection of imagery, medicine, history, and race and ethnicity. We consider here the benefits of producing such a resource while also considering ethical and practical concerns, and we offer recommendations for the ethical creation, structure, equitable use, and maintenance of a diverse morphological atlas for clinical diagnosis.
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