Australasian Science: Australia's authority on science since 1938

Genome–Disease Association Studies Defended

By Stephen Luntz

"Failure of candidate gene studies showed how little we knew about the basic causes of most common diseases."

The full text of this article can be purchased from Informit.

Australian scientists are part of an international defence of genome-wide association studies (GWAS), a technique for determining the causes of disease that they argue has been wrongfully maligned.

GWAS compare the genomes of thousands of people with and without particular diseases. Using single nucleotide polymorphism (SNP) chips, variations in the genome are matched with the presence or absence of a disease trait.

Prof Matthew Brown of the University of Queensland admits that GWAS studies are expensive, and that this has contributed to the criticism of the approach. However, Brown argues that in the space of 7 years GWAS has produced ample results to justify the cost.

Prior to GWAS, scientists identified SNPs they thought likely to be involved in a disease based on the proteins expressed, and made direct comparisons of the health of people with different genetic combinations. However, Brown says that the guesses made as to which SNP might be involved in a disease generally proved unreliable, and few diseases were defeated this way.

“The failure of candidate gene studies showed how little we knew about the basic causes of most common diseases,” Brown says. “Even in an advanced field such as immunology, animal models of disease have not translated well to human conditions. He adds that “they have also not been very successful in identifying...

The full text of this article can be purchased from Informit.