Abstract

BackgroundRecent changes to regulatory guidance in the US and Europe have complicated oversight of secondary research by rendering most uses of de-identified data exempt from human subjects oversight. To identify the implications of such guidelines for harms to participants and communities, this paper explores the secondary uses of one de-identified DNA sample collection with limited oversight: the Human Genome Diversity Project (HGDP)-Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset (CEPH) Human Genome Diversity Panel.MethodsUsing 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.ResultsA 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.ConclusionsWe 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.

Highlights

  • Recent changes to regulatory guidance in the US and Europe have complicated oversight of secondary research by rendering most uses of de-identified data exempt from human subjects oversight

  • * Correspondence: smfllrtn@u.washington.edu 1Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA 98195, USA Full list of author information is available at the end of the article 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, Fondation Jean Dausset (CEPH) Human Genome Diversity Panel, as reported from 2002-2009

  • We are confident that most published research using the sample collection or derived data was captured with this search strategy, we cannot be certain that all HGDP Diversity Panel linked publications were included

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Summary

Introduction

Recent changes to regulatory guidance in the US and Europe have complicated oversight of secondary research by rendering most uses of de-identified data exempt from human subjects oversight. 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. The HGDP-CEPH Human Genome Diversity Panel (hereafter, “HGDP Diversity Panel”) is a collection of cultured lymphoblastoid cell lines derived from 1,050 individuals drawn from 51 different human populations [4]. Informed consent for academic research use consistent with sample de-identification was verified by HGDP investigators at the time the collection was established in 2002, the specific terms of consent vary (Ref [4]; Greely, personal communication). The resource has been described as “useful for SNP [Single Nucleotide Polymorphism] discovery, analyzing SNP and haplotype variability and structure, and for determining global sequence variation at various [genetic] loci” [4]

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