Personalized genomic medicine faces many hurdles

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 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."

More information: 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

add to favorites email to friend print save as pdf

Related Stories

Keeping an eye on the Japanese genome

Jan 13, 2012

Age-related macular degeneration (AMD) is a common disease that can result in blindness. It is caused by cell death in the eye’s retina, which is partly responsible for transforming visual stimuli into ...

Embracing our differences

Jan 10, 2011

While it may have been a momentous occasion in scientific history, the assembly of the first human genome sequence in 2003 was only a first step toward understanding the extent and biological importance of ...

Recommended for you

Gene therapy protects mice from heart condition

Aug 20, 2014

A new gene therapy developed by researchers at the University of Missouri School of Medicine has been shown to protect mice from a life-threatening heart condition caused by muscular dystrophy.

Study finds crucial step in DNA repair

Aug 18, 2014

Scientists at Washington State University have identified a crucial step in DNA repair that could lead to targeted gene therapy for hereditary diseases such as "children of the moon" and a common form of ...

User comments