Feb 13, 2008

Genetic Testing on NBC News: How to Interpret the Results?

Bioinformatics scientists have long been helping biomedical researchers to interpret their genomics data. But who should/will/could help consumers to interpret their results? NBC News aired its investigation yesterday.

Having recognized the same probem since last year, I have been advocating the study of consumer bioinformatics. Bioinformatics has been traditionally defined as the scientific research to use computers to handle and genomics information.

Genomics testing is no longer for research uses only; it has reached millions of consumers with a few mouse clicks away since November 2007. Similarly, bioinformatics is no longer a scientific discipline just for research projects and scientists.

Overtime, we noticed that consumers have shown increasingly interests in bioinformatics. For instance, Hugh Reinhoff has started a wiki of “mydaughtersdna.org” to investigate the interpretation of her daughter’s genome. An active community has been formed around this wiki. Also, amateur scientists start having consumer access to super computing resources previous only available to heavily-funded researchers. Creative computing resources, such as the “Elastic Computing Cloud” by Amazon allows anyone to run parallel MPI-BLAST for less than $1.

We have coined the term “consumer bioinformatics” to emphasize the urgent need for bioinformatics in the consumer domain. Already a challenging problem in the research domain, we believe consumer bioinformatics will further invigorate the development of bioinformatics as a discipline and its applications.

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