Current best practices and rationalistic perspectives in causation-based prevention, early detection and multidisciplinary treatment of breast and gastric cancer

Gastric & Breast Cancer e-journal
DOI: 10.2122/gbc.2011.0148


To test my genome?

Prof. Theodore Liakakos, MD, PhD

Affiliation: Theodore Liakakos, MD, Professor of Surgery, 3rd Department of Surgery, University of Athens, School of Medicine, Attikon University Hospital, Rimini 1, Chaidari, Athens 12462, Greece.



Over the last 4 years genome-wide association studies (GWAS) using microchips with tens of thousands single-nucleotide-polymorphisms (SNPs) have identified multiple new genetic variants involved in the pathogenesis of major human diseases such as cancer, diabetes and others. Based on these findings, biotech companies sell now genomic tests promoting they can predict an asymptomatic person's risk for developing one or more common diseases. At the end of 2011, the number of human whole genome sequencing will dramatically be increased from a only few 3 years ago, to more than 30,000 due to faster, cheaper and accurate next-generation sequencing (NGS) technology. This huge rise will also amplify the number of gene variants identified by new GWAS giving the opportunity to biotech companies to produce and sell new genome assays with a wider landscape of mutations.

Here, I discuss whether both available and emerging genome tests will provide clinically useful information for personalized risks predictions and could these tests be provided as direct-to-consumers (DTC) genome tests in the web. Based on the latest knowledge on the sophisticated and heterogeneity of common diseases, it is discussed why regulatory science and FDA should set more rigorous criteria for approval and commercialization of DTC genome tests for protecting public health from potential health harms and money loss.

(Citation: Gastric & Breast Cancer 2011; 10(1): 19-24)

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last update: 8 February 2011