Predicting your own illnesses
If people could look into the future they would discover which illnesses they will suffer from – as well as when they will die. Although no one is clairvoyant, today experts can already predict for a range of illnesses – for example Alzheimer's, Parkinson's and various types of cancer – how probable it is that they will occur in a person. In doing so, they use modern methods of genetic analysis. Various companies offer this service for everyone. But what do the results mean, and how should they be handled? And what are the risks of data misuse? Could companies, for example, use DNA data to 'tailor' their advertisements for medicinal products? Or could sickness insurance funds use the data against their members?
In order to provide assistance in handling the test results and get a discussion going, three students have developed the non-commercial internet portal "openSNP" in their spare time. In the portal users can upload data from DNA analyses they have commissioned from companies specializing in this service. A link to databases containing relevant literature enables users to read about the current state of research on their own particular DNA variants. The system, which is always up to date, automatically looks for the appropriate publications. "We want to give people an easy opportunity to inform themselves comprehensively," explains Fabian Zimmer, 24, who is currently writing his Master's thesis in the Evolutionary Bioinformatics working group at Münster University. Zimmer developed the portal together with Bastian Greshake, who is now working on his own Master's thesis at Frankfurt University, and Philipp Bayer, who is currently studying in Australia. The three students were supported by Helge Rausch from Berlin, who did the programming.
The abbreviation SNP – pronounced "snip" – stands for "single nucleotide polymorphism" and it denotes certain variations in a person's genetic make-up. "There are about ten million such SNPs in human DNA," explains Zimmer. "We now know that a lot of them are linked to certain characteristics such as hair colour or eye colour." If a person has a certain SNP variant, then there is a certain probability that the associated illness will break out in them. In the case of many hereditary illnesses it is even possible to make a clear diagnosis.
These personal variants are set to play an increasingly important role in medicine. Zimmer predicts that "medicines will be adapted more and more to a person's own genetic make-up." Today people are already having their DNA analysed because they want to find out what their personal risk of illness is. "But what," says Zimmer, "does it mean if you get the test result and it says: 'You have a 90% probability of contracting diabetes'? I think it's very critical if someone has to cope with this statement without having any other chance of finding information."
"open SNP", which is currently being discussed in the News Blog of the prestigious journal "Nature" and has already won a $10,000 prize, offers other possibilities in addition to providing a literature research facility. Users can exchange views and, for example, pass on their own experiences. In line with the Wiki principle, the DNA data are accessible for all users. When registering, users have an option to fill out a questionnaire. The questions relate for example to hair colour and skin colour, but they also ask whether the respondent has a lactose intolerance or is addicted to nicotine. This information is linked to the DNA data. Scientists can use these data. "The American company '23andme' for example," says Fabian Zimmer, "which checks its clients' DNA for more than 200 characteristics and illnesses, says that it has already analysed the genetic make-up of 100,000 people. For scientists that would be an enormous treasure trove of data with which they could, for example, ascertain the frequency of certain DNA variants or look for further connections between genetic properties and people's characteristics."
For the students it is, however, extremely important that all uses should think very carefully about whether they want to make their data available. "Even if it is possible to register anonymously," says Zimmer, "and providing any personal information is voluntary, there is still a risk that data can be misused. What's important to us is to get a discussion going." Although personalized medicine has great potential for making the treatment of patients more efficient in future, and knowing more about one's own risks of illness also presents great opportunities, "anyone thinking about sending their DNA to a company to be analysed should first be sure that they really want to know the results," says Fabian Zimmer. "After all, what if someone who is 20 learns that they'll be dead at 50?"