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In an unfortunate turn of events, a recent publication out of Harvard University has found that a person’s genetic profile is a very poor predictor of disease and of little use in clinical practice. The study looked at genetic variations associated with breast cancer, type 2 diabetes and rheumatoid arthritis and found that knowledge of these variations only resulted in a 1-3% increase in risk prediction sensitivity. Hardly anything to get excited about.
Does this mean the end to personalized medicine? Of course not! However, it does mean that readers should be skeptical when hearing stories about the great predictive powers of genomic information and need to make sure to keep their scientific glasses on in order to avoid getting swept up by the excitement.
Reference: Aschard, H., Chen, J., Cornelis, M., Chibnik, L., Karlson, E., & Kraft, P. (2012). Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases The American Journal of Human Genetics DOI: 10.1016/j.ajhg.2012.04.017
:: Posted by American Biotechnologist on 04-09-2012
Researchers at the Mount Sinai School of Medicine have recently published a method that may further complicate the way society relates to genetic information and an individual’s right to privacy. Drs. Eric E. Schadt and Ke Hao from Mount Sinai’s Institute for Genomics and Multiscale Biology, have developed a method for identifying an individual’s DNA barcode using only their RNA expression levels. According to Schadt “By observing RNA levels in a given tissue, we can infer a genotypic barcode that uniquely tags an individual in ways that enables matching the individual to an independently derived DNA sample.”
While regulators have established privacy laws related to what can be done with an individual’s genome, very little, (if anything), has been discussed with regards to how personal RNA information can be used. Considering that, until now, it would have been difficult, at best, to identify an individual based on their RNA expression, such laws were considered useless. However, with the development of this new technique all that has changed. Not only will the new technique allow scientists to predict disease risks which were previously done using genomic data information, but it would also enable law enforcement authorities to tie genomic DNA found at a crime scene to individual information stored in a research studies’ RNA database (which are publicly available via a number of databases in the United States and Europe and contain thousands of genomic studies from around the world).
According to the authors, society needs to rethink the way they relate to privacy information. “Rather than developing ways to further protect an individual’s privacy given the ability to collect mountains of information on him or her, we would be better served by a society that accepts the fact that new types of high-dimensional data reflect deeply on who we are,” Dr. Schadt said. “We need to accept the reality that it is difficult—if not impossible—to shield personal information from others. It is akin to trying to protect privacy regarding appearances, for example, in a public place.”
This reminds me of a recent spoof produced by The Onion highlighting the significant paradigm shift social media has created for our right to privacy. What are your thoughts on the matter?
:: Posted by American Biotechnologist on 03-12-2012
In a brief paper in the journal Bioinformatics, Brown University researchers describe a new, freely available Web-based program called Spliceman for predicting whether genetic mutations are likely to disrupt the splicing of messenger RNA, potentially leading to disease.
“Spliceman takes a set of DNA sequences with point mutations and computes how likely these single nucleotide variants alter splicing phenotypes,” write co-authors Kian Huat Lim, a graduate student, and William Fairbrother, assistant professor of biology, in an “application note” published in advance online Feb. 10. It will appear in print in April.