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Paper short abstract

This paper examines how rare disease families in China build open genetic databases and confront “structural rareness,” as institutional authority and geopolitical borders restrict data sharing and fragment research futures.

Paper long abstract

Genes are small, but they carry large worlds. They encode inheritance, disease mechanisms, and therapeutic futures while simultaneously tracing kinship and belonging. Since the Human Genome Project, genetic research has relied on international collaboration and data sharing. With advancements in AI technology, high-quality and large-scale data are especially significant. However, nowadays, genetic data are increasingly treated as strategic resources with states, companies, and institutions restricting circulation in the name of biosecurity and technological competition.

This paper examines how patients with rare genetic diseases and their families in China understand, live with, and imagine genetic data and data-driven futures. Facing conditions that affect one in thousands or even millions, they work to construct public databases from genetic reports, natural histories, and clinical records, hoping to render otherwise marginalized diseases legible to scientists.

Yet these efforts encounter significant constraints, producing what I call “structural rareness”: a condition where political and systemic boundaries make communities appear too small for research investment. First, medical professionals often question the validity of patient-generated databases, complicating negotiations over who may gather, analyze, and store data. Second, institutional policies could restrict patients’ access to their own genetic information, and many fear that sharing data externally might damage relationships with their physicians. Third, geopolitical tensions, particularly between China and the West, impose strict limits on international data sharing. Consequently, as biomedicine requires data collaboration under ethical review, essential genetic information remains bounded by borders, narrowing patients’ access to and control over their own data.