domingo, 8 de abril de 2012

The Predictive Capacity of Personal Genome Sequencing

The Predictive Capacity of Personal Genome Sequencing

Sci. Transl. Med. DOI: 10.1126/scitranslmed.3003380
  • Research Article

The Predictive Capacity of Personal Genome Sequencing

  1. Victor E. Velculescu1,
+ Author Affiliations
  1. 1Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA.
  2. 2Johns Hopkins University, Department of Neuroscience, Baltimore, MD 21205, USA.
  3. 3Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, and Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA.
+ Author Notes
  • * These authors contributed equally to this work.
  1. To whom correspondence should be addressed. E-mail: (B.V.); (V.E.V)


New DNA sequencing methods will soon make it possible to identify all germline variants in any individual at a reasonable cost. However, the ability of whole-genome sequencing to predict predisposition to common diseases in the general population is unknown. To estimate this predictive capacity, we use the concept of a “genometype”. A specific genometype represents the genomes in the population conferring a specific level of genetic risk for a specified disease. Using this concept, we estimated the capacity of whole-genome sequencing to identify individuals at clinically significant risk for 24 different diseases. Our estimates were derived from the analysis of large numbers of monozygotic twin pairs; twins of a pair share the same genometype and therefore identical genetic risk factors. Our analyses indicate that: (i) for 23 of the 24 diseases, the majority of individuals will receive negative test results, (ii) these negative test results will, in general, not be very informative, as the risk of developing 19 of the 24 diseases in those who test negative will still be, at minimum, 50 - 80% of that in the general population, and (iii) on the positive side, in the best-case scenario more than 90% of tested individuals might be alerted to a clinically significant predisposition to at least one disease. These results have important implications for the valuation of genetic testing by industry, health insurance companies, public policy makers and consumers.

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