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

Related Stories

Keeping an eye on the Japanese genome

date 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

date 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

Genetic testing in kids is fraught with complications

date Jul 02, 2015

A woman coping with the burden of familial breast cancer can't help but wonder if her young daughter will suffer the same fate. Has she inherited the same disease-causing mutation? Is it best to be prepared ...

Cause of acute liver failure in young children discovered

date Jul 02, 2015

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. ...

Genome sequencing illuminates rare Aicardi syndrome

date Jul 02, 2015

As my inbox fills with ever more updates on the number of human genomes sequenced and the plummeting time and cost of next next next generation sequencing, I find myself hitting delete more and more often. ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.