Access to data from GWA studies restricted

18 September 2008

In the August issue of PLoS Genetics, an article described a new forensic DNA analysis technique which is able to identify the DNA of one individual in the midst of a large sample. The paper by Homer et al. describes how statistical analysis of data from single nucleotide polymorphism (SNP) data sets could be used to resolve individual genotypes [Homer N et al, (2008) PLoS Genet. 4(8), e1000167]. This technique is a major breakthrough for forensic science as it will allow identification of an individual’s DNA even if it only constitutes 0.1% of the whole mixture in the sample. The technique can allegedly also be applied to individual participants in data obtained from genome-wide association (GWA) studies, although identification would require prior knowledge of the SNP profile of the individual concerned, or a close relative. Despite the remote possibility of identification of individual participants in GWA studies, some institutes such as the US National Institutes of Health (NIH) and the Wellcome Trust have, since the publication of the article, restricted access to genetic data on grounds that it throws into question previous consent procedures and approaches to privacy and confidentiality in such research (reported in Science).

GWA studies operate on the basis of the location of many SNPs associated with susceptibility to disease.  The data are usually stored in publicly accessible databases so that they can be used by other researchers, and are generally pooled and summarised in the form of statistical information, in order to ensure that anonymity is maintained. The technique described by Homer et al. opens the possibility of the identification of individual participants. However, in order to achieve this, their SNP profile must be previously known, and this information is generally only available to researchers.

The new statistical approach has implications for data sharing policies, as data from GWA studies has been made publicly available via research databases, websites, journal articles and other publications. Some researchers feel that the NIH/Wellcome Trust restriction on access to data is premature and may impede research (reported by Nature). The NIH is currently working to explore and address the policy implications of this finding and in a letter published in Science, called on others in the scientific community to join in the deliberations [Zerhouni EA et al. (2008) Science  Sep 4: Epub ahead of print]. Issues relating to privacy, confidentiality and consent, have already been raised in the context of personal genomics (see news reviews) and bio banking, and are becoming increasingly important as genetic data proliferates.

 

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