Data privacy may not be 'technically' feasible for pharmacogenetics studies 7/9/04. By the Public Health Genetics Unit Researchers in the USA have raised questions about the feasibility of keeping data about individuals in genetic databases confidential.

In an article in the journal Science, Zhen Lin, Art Owen and Russ Altman from Stanford University raise concerns about the ability to identify individuals through their single-nucleotide polymorphism (SNPs) data.

SNPs are changes in a person's DNA sequence that occur in every approximately 3000 base pairs. SNPs are collected to aid researchers in understanding the genetic basis of predisposition to disease as well as healthy bodily functions. Some SNPs can cause individuals to metabolise certain substances in a different way, making them useful in pharmacogenetic research. However, SNPs can also be used to identify people.

The researchers state that "If someone has access to individual genetic data and performs matches to public SNP data, a small set of SNPs could lead to successful matching and identification of the individual." If this did happen any other information in the data record would also be available.

The authors estimate that as few as 75 SNPs can identify an anonymous research subject and if that person has any rare SNPs, this number could be further reduced. Even using techniques such as data suppression or disregarding the exact genomic location of SNPs will not increase the confidentiality of the data.

This raises concerns about the ability of genetic databases to protect data about research subjects. Without these databases pharmacogenomic studies may suffer; however, proper safeguards must be put into place. The authors believe that, lacking technical methods of protecting confidentiality, the answer lies in policy and regulation. They advocate strict guidelines for genetic databases and changes in US regulations to make it clear who is authorised to use and exchange human genetic data and for what reasons. These changes should "…explicitly protect genetic privacy and set strong penalties for violations".

However, there are others who question this call for treating genetic information in a special way, as this might hinder medical research.

Morris Foster, associate professor of anthropology at the University of Oklahoma, commenting on this issue in an article in Nature Reviews Drug Discovery, stated "Lots of information in medical records could be used to identify individuals." Bartha Knoppers, professor of law at the Center for Public Law Research at the University of Montreal, commenting in the same article, believes that the way forward is to ensure that there are data protection officers associated with databases who are properly trained to handle issues of privacy protection.

Article courtesy of the Public Health Genetics Unit.

Image credit: Shelley James

Further reading

Lin Z, Owen AB and Altman RB. Genomic research and human subject privacy. Science 2004 305:183. Commentary

Howard K (2004) Lack of data privacy could hamper pharmacogenomics studies. Nat Rev Drug Discov 3:725.