Public Health Genomics



In recent years, significant advances have been made in understanding the genetic etiology of a wide range of human inherited diseases. These advances have been made possible thanks to the significant breakthroughs and rapid pace of development of the genomic technology, aiding clinicians in their task of estimating disease risk, as well as individualizing treatment modalities. 

Although there have been major leaps in genomics research and discovery work, facilitated by the genomic technology revolution, the pace of these discoveries has not met with reciprocal advances in the translation of these findings into the clinic. In other words, there are often significant barriers that hamper the smooth incorporation of genomics research findings in the daily medical practice, which have to do more with disciplines related to Public Health Genomics rather than genomics research itself. These disciplines are of utmost importance since they contribute to the transition from genomics research to Genomic and Personalized Medicine. 

The Public Health Genomics group of the Laboratory of Pharmacogenomics and Individualized Therapy is involved in projects related to these disciplines, such as ethical, legal and societal aspects in Genomics (also termed as ELSI), improving and harmonizing the genetics education of healthcare professionals and biomedical scientists, raising genetics awareness among the general public, and health economic evaluation in relation to genomic medicine. The group is internationally recognized for its achievements, that include high profile publications and competitive funding by major funding agencies.

Group Leader: Stavroula Siamoglou

Selected Publications:

Fragoulakis V, Roncato R, Fratte CD, Ecca F, Bartsakoulia M, Innocenti F, Toffoli G, Cecchin E, Patrinos GP, Mitropoulou C. Estimating the Effectiveness of DPYD Genotyping in Italian Individuals Suffering from Cancer Based on the Cost of Chemotherapy-Induced Toxicity. Am J Hum Genet. 2019;104(6):1158-1168. 

Tsermpini EE, Stamopoulou T, Kordou Z, Barba E, Siamoglou S, Stathoulias A, Patrinos GP. Continuous pharmacogenomics and genomic medicine education for healthcare professionals through electronic educational courses. Per Med. 2019;16(3):189-193.

Simeonidis S, Koutsilieri S, Vozikis A, Cooper DN, Mitropoulou C, Patrinos GP. Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions. Front Pharmacol. 2019;10:830.

Lakiotaki K, Kanterakis A, Kartsaki E, Katsila T, Patrinos GP, Potamias G. Exploring public genomics data for population pharmacogenomics .PLoS One. 2017;12(8):e0182138.

Just KS, Steffens M, Swen JJ, Patrinos GP, Guchelaar HJ, Stingl JC. Medical education in pharmacogenomics-results from a survey on pharmacogenetic knowledge in healthcare professionals within the European pharmacogenomics clinical implementation project Ubiquitous Pharmacogenomics (U-PGx). Eur J Clin Pharmacol. 2017;73(10):1247-1252.

Kricka LJ, Fortina P, Mai Y, Patrinos GP. Direct-access genetic testing: the view from Europe. NatureRev Genet. 2011;12(10):670.