Secondary uses and the governance of de-identified data: Lessons from the human genome diversity panel

Using a combination of keyword and cited reference search, we identified English-language scientific articles published between 2002 and 2009 that reported analysis of HGDP Diversity Panel samples and/or data. We then reviewed each article to identify the specific research use to which the samples and/or data was applied. Secondary uses were categorized according to the type and kind of research supported by the collection.A wide variety of secondary uses were identified from 148 peer-reviewed articles. While the vast majority of these uses were consistent with the original intent of the collection, a minority of published reports described research whose primary findings could be regarded as controversial, objectionable, or potentially stigmatizing in their interpretation.We conclude that potential risks to participants and communities cannot be wholly eliminated by anonymization of individual data and suggest that explicit review of proposed secondary uses, by a Data Access Committee or similar internal oversight body with suitable stakeholder representation, should be a required component of the trustworthy governance of any repository of data or specimens.Human tissue and DNA sample collections have proliferated over the last several decades along with increasing secondary use of genotypic and phenotypic data in research. Yet, there is little consensus regarding the effective governance of secondary research uses, beyond adherence to the terms of informed consent. Recent changes to regulatory guidance in the US and Europe [1-3] have further complicated oversight of secondary research by focusing narrowly on risks related to individual identifiability, rendering most uses of anonymized data exempt from human subjects oversight. To identify the implications of such guidelines for harms to participants and communities this paper explores, by way of a case example, the secondary uses of the Human Genome Diversity Project (HGDP)-Centre d'Etude du Polymorphisme Humain