News: Cancer susceptibility screening in the era of Next-Gen Sequencing

Advances in high-throughput sequencing: how do they help us understand cancer?


Recent advances in Next-Gen sequencing are helping researchers gain an in-depth understanding of cancers with particular focus on breast and prostate cancer, according to Dan Kobolt, analysis manager of Genome Institute at Washington University.

Currently, high-throughput technologies enable researchers to conduct genome-wide association studies (GWAS) with large amount of samples while also being cost-effective.

GWAS pullquote

“Yet few of these have been independently replicated, and (as with all GWAS) the associated markers tend to be linked to nearby functional variation, rather than directly influencing the phenotype themselves. In other words, GWAS findings only tell us where to look, not which genes and functional variants actually influence susceptibility,” he explains.

In addition, the markers identified tend to have low odds ratios and with little clinical utility.

However, Kobolt evokes the possibility of screening the entire adult population to identify cancer susceptibility alleles, despite fundamental genetic screening concerns still remain, such as the cost of testing and the burden of genetic counselling.

Front Line Genomics

“I’d argue that these are hurdles that must be overcome, if we’re to use our growing knowledge of disease genetics to improve the state of human health,” he asserts.

To read more about Kobolt’s view on Next-Gen Sequencing, go to