Public Release: 

Personalized genomic medicine faces many hurdles

PLOS

When the human genome project was completed in 2003, some expected it to herald a new age of personalized genomic medicine, but the resulting single "reference" sequence has significant shortcomings for these applications and does not account for the actual variability in the human population, as reported in a study published July 11 in the open access journal PLoS ONE.

Using genomic data from a large number of individuals, the authors of the study, led by Todd Smith of PerkinElmer in Seattle, Washington, show that current genomic research resources and bioinformatics methods are inadequate for the level of genomic variation among individuals in the population, and that much work will be required before personalized genomic medicine can reach its full potential.

"Resources such as microarrays and bioinformatics programs, as well as guiding assumptions used in genetic studies need to be revised," Dr. Smith explains. "For example, regions of linkage disequilibrium and runs of homozygosity, used to tag and predict disease alleles, are much shorter than previously estimated and we found that many GWAS studies contain potentially complicating unprobed variants."

###

Citation: Rosenfeld JA, Mason CE, Smith TM (2012) Limitations of the Human Reference Genome for Personalized Genomics. PLoS ONE 7(7): e40294. doi:10.1371/journal.pone.0040294

Financial Disclosure: Award Number 2R44HG005297 from the National Human Genome Research Institute supported this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Competing Interest Statement: TS is an employee of Perkin Elmer. This does not alter the authors' adherence to all the PLoS ONE policies on sharing data and materials.

PLEASE LINK TO THE SCIENTIFIC ARTICLE IN ONLINE VERSIONS OF YOUR REPORT (URL goes live after the embargo ends): http://dx.plos.org/10.1371/journal.pone.0040294

Disclaimer: This press release refers to upcoming articles in PLoS ONE. The releases have been provided by the article authors and/or journal staff. Any opinions expressed in these are the personal views of the contributors, and do not necessarily represent the views or policies of PLoS. PLoS expressly disclaims any and all warranties and liability in connection with the information found in the release and article and your use of such information.

About PLoS ONE

PLoS ONE is the first journal of primary research from all areas of science to employ a combination of peer review and post-publication rating and commenting, to maximize the impact of every report it publishes. PLoS ONE is published by the Public Library of Science (PLoS), the open-access publisher whose goal is to make the world's scientific and medical literature a public resource.

All works published in PLoS ONE are Open Access. Everything is immediately available--to read, download, redistribute, include in databases and otherwise use--without cost to anyone, anywhere, subject only to the condition that the original authors and source are properly attributed. For more information about PLoS ONE relevant to journalists, bloggers and press officers, including details of our press release process and our embargo policy, see the everyONE blog at http://everyone.plos.org/media.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.