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Computational phenotyping research uses big data methods to refine the diagnosis of rare genetic diseases. Photographs (and other biomedical data) of people with genetic syndromes are used to train machine-learning algorithms to identify the phenotypic features associated with different disorders. The data are obtained from consortia of clinicians and researchers involved in rare disease research, and directly from patients themselves through online direct participation initiatives. This research will identify ethical issues arising from the use of photographic facial images in computational phenotyping research.

We will: a) undertake exploratory interviews with data–sharing consortium members and patient group representatives to determine their perceptions of ethical issues arising from the sharing and use of photographic data in phenotyping research b) undertake a scoping literature review concerning the use of photographs in (biomedical) research, and c) hold a meeting of Consortium members to disseminate and discuss findings of the pilot work.