Viewpoints Public Access to Genome-Wide Data: Five Views on Balancing Research with Privacy and Protection P 3 G Consortium*, George Church1*, Catherine Heeney2*, Naomi Hawkins2, Jantina de Vries2, Paula Boddington2, Jane Kaye2, Martin Bobrow3*, Bruce Weir4* 1 Department of Genetics, Harvard Medical School, Cambridge, Massachusetts, United States of America, 2 The Ethox Centre, Department of Public Health and Primary Care, University of Oxford, Oxford, United Kingdom, 3 Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom, 4 Department of Biostatistics, University of Washington, Seattle, Washington, United States of America Introduction by Greg Gibson and Elizabeth Fisher Just over twelve months ago, PLoS Genetics published a paper [1] demonstrat- ing that, given genome-wide genotype data from an individual, it is, in principle, possible to ascertain whether that individ- ual is a member of a larger group defined solely by aggregate genotype frequencies, such as a forensic sample or a cohort of participants in a genome-wide association study (GWAS). As a consequence, the National Institutes of Health (NIH) and Wellcome Trust agreed to shut down public access not just to individual geno- type data but even to aggregate genotype frequency data from each study published using their funding. Reactions to this decision span the full breadth of opinion, from ‘‘too little, too late—the public trust has been breached’’ to ‘‘a heavy-handed bureaucratic response to a practically minimal risk that will unnecessarily inhibit scientific research.’’ Scientific concerns have also been raised over the conditions under which individual identity can truly be accurately determined from GWAS data. These concerns are addressed in two papers published in this month’s issue of PLoS Genetics [2,3]. We received several submissions on this topic and decided to assemble these viewpoints as a contribu- tion to the debate and ask readers to contribute their thoughts through the PLoS online commentary features. Five viewpoints are included. The Public Population Project in Genomics (P3G) is calling for a universal researcher ID with an access permit mechanism for bona fide researchers. The contribution by Catherine Heeney, Naomi Hawkins, Jan- tina de Vries, Paula Boddington, and Jane Kaye of the University of Oxford Ethox Centre outlines some of the concerns over possible misuse of individual identification in conjunction with medical and family history data, and points out that if geneticists mishandle public trust, it will backfire on their ability to conduct further research. George Church posits that actions directed toward restricting data access are likely to exclude researchers who might provide the most novel insights into the data and instead makes the argument that full disclosure and consent to the release of genomic information should be sought from study participants, rather than making difficult-to-guarantee promises of anonymity. Martin Bobrow weighs the risks and benefits and proposes four steps that represent a middle ground: Retain restricted access for now, make malicious de-identification practices ille- gal, increase public awareness of the issues, and encourage recognition that scientists have a special professional relationship of trust with study participants. Finally, Bruce Weir provides a commentary on the contribution of the two research articles from Braun et al. [2] and Visscher and Hill [3]. P3G’s Viewpoint: Future- Proofing Population Genomics? The privacy concerns raised in the recent paper by Homer et al. [1] have had a significant impact on international open-access genomic databases. Individual single-nucleotide polymorphism (SNP) da- ta from a participant in a GWAS can reveal whether that participant is in a DNA mixture including up to 1,000 participants. Although in hindsight it is clear that basic statistical theory would predict this to be the case, the reality is that it had previously gone completely unrecognised. This situation illustrates the need to raise the level of discussion, thereby avoiding the ad hoc resolution of immedi- ate privacy concerns and anticipating future scientific possibilities with a view to providing prospective guidance. The implications of the Homer paper were discussed by the international Public Population Project in Genomics (P3G) (http://www.p3g.org). The consensus was that any scientist seeking to work with genomic data be required to adhere to an internationally agreed code of conduct and to provide proof of institutional status as a bona fide researcher. A successful applicant could be awarded a permit and placed on a registry of users that would allow defined access to geno- mic databases (e.g., individually identifi- able password and/or other criteria). This would avoid the need for repeated appli- cations to prove bona fide status to different bodies, as is currently required. Infringement of the terms of the permit would bar the applicant from further access to genomic databases adhering to this code of conduct. Citation: P3G Consortium, Church G, Heeney C, Hawkins N, de Vries J, et al. (2009) Public Access to Genome- Wide Data: Five Views on Balancing Research with Privacy and Protection. PLoS Genet 5(10): e1000665. doi:10.1371/journal.pgen.1000665 Editor: Greg Gibson, The University of Queensland, Australia Published October 2, 2009 Copyright: 2009 P3G Consortium et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: The P3G Consortium is funded by Genome Canada and Genome Quebec. CH is funded by the European Commission through grant number LSHB-CT-2006-037319. NH and JdV are funded by the Wellcome Trust, under grant codes WT 077869/Z/05/Z and WT 083326/Z/07/Z. PB is funded by EU FP6, Procardis Project number 037273. JK is funded by the Wellcome Trust under grant code WT 081407/Z/06/Z. BW is supported by a National Institutes of Health grant GM 075091. The funders had no role in the preparation of the article. Competing Interests: The authors have declared that no competing interests exist. * E-mail: bartha.knoppers@mcgill.ca (P3G); gmc@harvard.edu (GC); catherine.heeney@ethox.ox.ac.uk (CH); mb238@cam.ac.uk (MB); bsweir@u.washington.edu (BW) PLoS Genetics | www.plosgenetics.org 1 October 2009 | Volume 5 | Issue 10 | e1000665