The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, Santorini, Greece, 23–26 May 2022

摘要

The 10 th biannual conference on Systems Medicine, Personalised Health and Therapy, under the auspices of the Santorini Conferences Association (SCs), the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC), the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM), the Hellenic Society of Pharmacogenomics and personalized Diagnosis and Therapy (EEPHARM), and the European Society of Pharmacogenomics and Personalised Therapy (ESPT), took place in Santorini, Greece, between 23-26 of May 2022. It was sponsored by several companies: Randox (Crumlin, United Kingdom), Agena Bioscience (Hamburg, Germany) and Cellecta as Gold Sponsors; Thermofisher Scientific (San Francisco, United States) and PharmGenetix (Vienna, Austria), as Silver Sponsors; HMG systems Engineering (Fuerth, Germany) as Bronze Sponsors, reinforced by specific supports from the Santorini Conferences Association (SCs), The Austrian Society for Laboratory Medicine & Clinical Chemistry (OGLMKC), Transgene (Strasbourg, France), The Journal "Frontiers in Genetics" and strengthened with scientific meetings supported by the University of Lorraine and INSERM ('Cercle Gutenberg'). In this article we briefly outline the presentations delivered during the conference and review the key messages and conclusions.The conference was officially initiated by Sofia Siest, the President of the Santorini Conference series, thanked all the members of the different committees and the sponsors. She presented an overview of the outcomes of the previous conference and announced the inauguration of the Santorini Conferences series under the umbrella of the Santorini Conferences Association (SCs) and the development of the new website: www.santoriniconference.org. She then underlined that this was the 20 th Anniversary of the conference's series and outlined the content of the scientific program (presentations and speakers) and the different topics to be covered. Following the welcome session, Raute Sunder-Plassmann (Vienna, Austria) and Markus Paulmichl (Salzburg, Austria) introduced the keynote round table, supported by the Austrian Society for Laboratory Medicine & Clinical Chemistry "OGLMKC" and focused on Pharmacogenetics (PGx) Analysis in the Medical Diagnostic Laboratory -From Science to Clinical Decision Support (CDS). The major topics/highlights of the round table discussion included: • Whole genome sequencing provides opportunities to identify new genetic factors for efficacy and safety phenotypes or for explaining the missing phenotype heritability seen in twin studies. New genetic variants could act as regulators of pharmacogenes expression • Long read sequencing allows to unravel complex gene loci • Large biobanks offer the opportunity to discover pharmacogenomic phenotypes • Value in expanding pharmacogenomic research to diverse ancestry groups • Significance of personalized prescription • Advances in genotyping technologies and a concomitant drop in the costs and turnaround time facilitate multi-gene analyses and preemptive pharmacogenetic testing in medical diagnostic laboratories • Value in switching to extended PGx panel diagnostics • Adhere to current guidelines on pharmacogenomic testing and reporting • Importance of recommendations for standardization of pharmacogenetic terminology and test design • Importance of providing clear, concise, and interpretable reports, providing details on the test itself and the identified variants in a separate supplementary document • Need for integrating PGx data into the patient's electronic health record and -if availablein a Clinical Decision Support System (CDSS).M. Ingelmann Sundberg (Stockholm, Sweden) described how the ability to interrogate the whole genome provides us with unparalleled opportunities to identify new genetic predisposing factors in an unbiased manner for both efficacy and safety phenotypes, often leading to new insights into gene function and explaining the missing heritab