Monday, June 24, 2013

Iceland Blocks deCODE Genetics Use of Predicted Genotypes

Jocelyn Kaiser, at Science Insider, on deCODE Genetics:
The current dispute involves an approach in which geneticists calculate the odds of whether an individual carries a particular genetic variant without directly sequencing their DNA. Combining known and estimated genotypes for its research participants with genealogical data, deCODE is estimating what it calls in silico genotypes of close relatives of the research volunteers, essentially giving the company genotypes for all 320,000 Icelanders. The firm then uses these estimated genotypes for individuals as controls in its studies and also combines them with health records for patients who are part of a disease study in Iceland but whose DNA has not been sampled.

Iceland's Data Protection Authority (DPA) ruled that if deCODE wanted to continue this strategy—it asked to impute the genotypes of 280,000 living and dead relatives of the research volunteers and link them to certain hospital records—it must obtain the relatives' informed consent.  
deCODE's CEO, Kari Stefansson, is obviously not content with this decision, especially as the analyses weren't forbidden under previous rules and the company has published several papers using the approach.  In a way, imputing genomic information and using it in place of actual DNA samples of the patients concerned (who have not consented to having their genomes used) is a bit of a loophole. 

A loophole is defined as some areas of rules or laws that isn't clearly defined, and thus permits certain actions that probably wouldn't be permissible with a clearer interpretation of the rules.  Eventually, loopholes get closed, an in nearly all cases leaving someone crying foul.