Research ArticleGenomics

The Predictive Capacity of Personal Genome Sequencing

Science Translational Medicine  09 May 2012:
Vol. 4, Issue 133, pp. 133ra58
DOI: 10.1126/scitranslmed.3003380

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Is It All in Your Genes?

Imagine that everyone at birth could have their whole genome sequenced at negligible cost. Surely, this must be a worthwhile endeavor, given the list of luminaries that have already had this sequencing completed. But how well will such tests perform? Will we be able to predict what diseases individuals will develop, and die from, right from birth?

In a study that seeks to answer these questions, Vogelstein and his colleagues present an unbiased assessment of the capacity of whole-genome sequencing to provide clinically relevant information assuming that future research will allow us to understand the significance of every genetic variant. Using previously published data on twins and a new mathematical framework, Vogelstein and his co-workers were able to estimate the maximum capacity of whole-genome sequencing to predict the risk for 24 relatively common diseases. They show that most of the tested individuals could be alerted to a predisposition to at least one disease. However, in any given individual, whole-genome sequencing will be relatively uninformative for most diseases, because the estimated risk of developing these diseases will be similar to that of the general population. Thus, for most patients, genetic testing will not be the dominant determinant of patient care and will not be a substitute for preventative medicine strategies incorporating routine checkups and risk management based on the history, physical status, and life-style of the individual.