Facing ethics: identifying ethical issues in computational phenotyping research

Computational phenotyping research uses big data methods to refine the diagnosis of rare genetic diseases. Photographs and other biomedical data from people with genetic syndromes are used to train machine-learning algorithms to identify the phenotypic features associated with different disorders. The data is obtained from consortia of clinicians and researchers who research rare diseases, and directly from patients using online participation initiatives.

This research programme will identify ethical issues arising from the use of photographs in computational phenotyping research. We will undertake exploratory interviews with data-sharing consortium members and representatives of patient groups to determine their perceptions of ethical issues arising from sharing and using photographic data in phenotyping research. We will also undertake a scoping literature review concerning the use of photographs in biomedical research, and hold a meeting of consortium members to disseminate and discuss findings of the pilot work.

This study will lead to a collaborative proposal that will develop an ethical position on the sharing of photographic data, and explore research participants’ views of the use of their photographs and other data in phenotyping research.