Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.

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Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.

Genet Med. 2016 Nov;18(11):1069-1074

Authors: Koretzky M, Bonham VL, Berkman BE, Kruszka P, Adeyemo A, Muenke M, Hull SC

Abstract
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.Genet Med 18 11, 1069-1074.

PMID: 26963283 [PubMed - indexed for MEDLINE]

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