• DOI:10.1586/era.09.12
• Corpus ID: 24746283

Genome-wide association studies: how predictable is a person’s cancer risk?

@article{Roukos2009GenomewideAS,
  title={Genome-wide association studies: how predictable is a person’s cancer risk?},
  author={Dimitrios H. Roukos},
  journal={Expert Review of Anticancer Therapy},
  year={2009},
  volume={9},
  pages={389 - 392}
}

• D. Roukos
• Published 1 April 2009
• Biology
• Expert Review of Anticancer Therapy

From overenthusiasm to scientific assessment and hard reality, the time required for this transiton has recently been drastically shortened. As high-throughput screening technology is rapidly evolving, it allows for the testing of new conceptual study designs to manage highly complex diseases, such as cancer. Profiling the expression of thousands of genes simultaneously by microarrays created optimism a decade ago. It was thought that we could move away from an empirical, general, tumor–node–metastasis staging system to a more accurate and individualized prognostic and predictive molecular system based on gene-expression signatures [1,2]. However, approximately 9 years later, the notion that gene-expression profiling data alone has limitations in clinical practice has been increasingly adopted [3,4]. Now, a similar overoptimism has been generated over the last 2–3 years by genome-wide association (GWA) studies. These studies have become very popular because they may uncover a wealth of high confidence, replicated associations between genetic variants and diseases in humans [5–7]. Many novel loci and genetic variants described for the first time have been identified using whole-genome scans. It was thought that individuals carrying high-risk single nucleotide polymorphism (SNPs) face an increased risk of developing cancer. Thus, already, several companies have commercialized these ‘DNA chips’, offering the possibility for customers paying US$1000 to be informed about their individual risk of developing cancer or other common complex diseases [8]. However, how reliable are the genetic data provided by GWA studies and are they ready for prime clinical use? An unbiased design of GWA studies, including large sample size and replication studies, has allowed the identification of many susceptibility loci. Despite this unbiased evaluation, which reduces the rate of false-positive and false-negative results, there are still many questions and a myriad of problems for clinical use [5–7]. This editorial addresses two key questions: is an individual’s risk of developing a particular cancer type predictable? How could GWA studies lead to personalized strategies in the prevention setting of solid cancer?