Ubiquitous Pharmacogenomics (U-PGx): Making actionable pharmacogenomic data and effective treatment optimization accessible to every European citizen

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Therapeutic recommendations in Dutch, Greek, German, Italian, Slovene and Spanish

Therapeutic recommendations in Dutch Greek German Italian Slovene and Spanish

Report on ELSI education needs
Report on design of future study employing one promising model
Overall report on ELSI aspects of U-PGx

Overall report on ELSI aspects of UPGx

Survey to evaluate the state of PGx knowledge in the 7 participating countries
Report on ethical issues, guidelines, governance model and principals for patients included in U-PGx

Report on ethical issues guidelines governance model and principals for patients included in UPGx

Establishment of PK models for prediction of DDI and genetic polymorphisms on drug exposure for candidate genes included in the U-PGx trial

Establishment of PK models for prediction of DDI and genetic polymorphisms on drug exposure for candidate genes included in the UPGx trial

Detection, assessment and evaluation of clinically relevant DDI in the U-PGx trial

Detection assessment and evaluation of clinically relevant DDI in the UPGx trial

Report on detailed analysis of existing information infrastructures and requirements of implementation sites
Report on predictions from first model
Analysis of European regulatory requirements
Report on models identified to be developed
Policy recommendations on the pre-emptive use of U-PGx testing in routine clinical practice and uptake by health care systems

Policy recommendations on the preemptive use of UPGx testing in routine clinical practice and uptake by health care systems

Report on comparison of model predictions and observed data from WP4
Critical re-evaluation and first implementation of revised DPWG guidelines by consideration of relevant DDI

Critical reevaluation and first implementation of revised DPWG guidelines by consideration of relevant DDI

Report on predictions from further models
List of relevant genetic variants for pre-emptive PGx testing

List of relevant genetic variants for preemptive PGx testing

Report on the association of novel genomic variants and extreme phenotypes
Report on finalization endpoint data extraction from clinical database into NONMEM dataset
Report on public events and societal activities in relation with U-PGx

Report on public events and societal activities in relation with UPGx

PGx-guidelines therapeutic recommendations and risk-assessments in English

PGxguidelines therapeutic recommendations and riskassessments in English

Published review paper based upon the current scientific and grey literature on ethics of PGx
Midterm Review
Report on interoperability and development of a shared semantic model
Translated patient surveys for the web-based intensive monitoring system

Translated patient surveys for the webbased intensive monitoring system

Final report on decision support solutions at implementation sites

Organization of a U-PGx Personalized Medicine Day in France

Organization of a UPGx Personalized Medicine Day in France

Organization of the 1st patient/general public oriented PGx information events

Organization of the 1st patientgeneral public oriented PGx information events

Education programme for non-participants

Education programme for nonparticipants

Organization of a U-PGx Personalized Medicine Day in Greece

Organization of a UPGx Personalized Medicine Day in Greece

Organization of a U-PGx Personalized Medicine Day in the UK

Organization of a UPGx Personalized Medicine Day in the UK

Organization of the 3rd patient/general public-oriented PGx information event

Organization of a UPGx Personalized Medicine Day in Germany

Organization of a major 4-day U-PGx Personalized Medicine Symposium in Leiden, Netherlands

Organization of a major 4day UPGx Personalized Medicine Symposium in Leiden Netherlands

Summer school including ELSI topics (prepared by WP8) for medical and pharmacy students

Summer school including ELSI topics prepared by WP8 for medical and pharmacy students

Organization of the 2nd patient/general public oriented PGx information events

Organization of the 2nd patientgeneral public oriented PGx information events

Organization of a U-PGx Personalized Medicine Day in Slovenia

Organization of a UPGx Personalized Medicine Day in Slovenia

Organization of a U-PGx Personalized Medicine Day in Sweden

Organization of a UPGx Personalized Medicine Day in Sweden

Organization of a U-PGx Personalized Medicine Day in Spain

Organization of a UPGx Personalized Medicine Day in Spain

Promotional video will be produced that visualises and promotes the idea of the idea of personalised medicine and pre-emptive PGx testing

Promotional video will be produced that visualises and promotes the idea of the idea of personalised medicine and preemptive PGx testing

Workshop for participating healthcare professionals
Organization of a U-PGx Personalized Medicine Day in Austria

Organization of a UPGx Personalized Medicine Day in Austria

1st version of the public-domain web-based U-PGx information portal

1st version of the publicdomain webbased UPGx information portal

Delivery of decision support solutions including framework for digital infrastructure including secure cloud solutions
Dedicated webpage with secured login access for investigators and study staff
3rd version of the public-domain web-based PGx information portal

3rd version of the publicdomain webbased PGx information portal

Standardized Electronic Case Record Form (eCRF)

Standardized Electronic Case Record Form eCRF

A new model of cost-effectiveness analysis, taking into account the restriction of budget

A new model of costeffectiveness analysis taking into account the restriction of budget

Validated bioinformatics tool
2nd version of the public-domain web-based PGx information portal

2nd version of the publicdomain webbased PGx information portal

A standard cost-effectiveness model to assess cost-effectiveness of PGx testing in each implementation site

A standard costeffectiveness model to assess costeffectiveness of PGx testing in each implementation site

Release of open-source software artefacts for decision support solutions

Release of opensource software artefacts for decision support solutions

eLearning program for the train the trainers concept

updated version of DMP
first version of DMP
final version DMP

Release of open-source software artefacts describing semantic model

Release of opensource software artefacts describing semantic model

ELSI content for a summer school on PGx to be delivered by WP6
set of specifications for the selected PGx assays

Publications

Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Author(s): Zhou Y, Lauschke VM.
Published in: Human genetics, 2021, ISSN 0340-6717
Publisher: Springer Verlag
DOI: 10.1007/s00439-021-02385-x

Tri-Allelic Haplotypes Determine and Differentiate Functionally Normal Allele CYP2D6*2 and Impaired Allele CYP2D6*41.

Author(s): Zanger UM, Momoi K, Hofmann U, Schwab M, Klein K.
Published in: Clinical pharmacology and therapeutics, 2021, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.2078

Pharmacogenetics Guidelines: Overview and Comparison of the DPWG, CPIC, CPNDS, and RNPGx Guidelines.

Author(s): Abdullah-Koolmees H, van Keulen AM, Nijenhuis M, Deneer VHM.
Published in: Frontiers in pharmacology, 2020, ISSN 1663-9812
Publisher: Frontiers Media S.A.
DOI: 10.3389/fphar.2020.595219

Genomewide Association Study of Platelet Reactivity and Cardiovascular Response in Patients Treated With Clopidogrel: A Study by the International Clopidogrel Pharmacogenomics Consortium

Author(s): Shefali Setia Verma, Thomas O. Bergmeijer, Li Gong, Jean‐Luc Reny, Joshua P. Lewis, Braxton D. Mitchell, Dimitrios Alexopoulos, Daniel Aradi, Russ B. Altman, Kevin Bliden, Yuki Bradford, Gianluca Campo, Kiyuk Chang, John H. Cleator, Jean‐Pierre Déry, Nadia P. Dridi, Israel Fernandez‐Cadenas, Pierre Fontana, Meinrad Gawaz, Tobias Geisler, Gian Franco Gensini, Betti Giusti, Paul A. Gurbel, Wi
Published in: Clinical Pharmacology & Therapeutics, Issue 108/5, 2020, Page(s) 1067-1077, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.1911

Substrate specificity of CYP2D6 genetic variants.

Author(s): van der Lee M, Guchelaar HJ, Swen JJ.
Published in: Pharmacogenomics, 2021, ISSN 1462-2416
Publisher: Ashley Publications Ltd.
DOI: 10.2217/pgs-2021-0093

Clinically Relevant Cytochrome P450 3A4 Induction Mechanisms and Drug Screening in Three‐Dimensional Spheroid Cultures of Primary Human Hepatocytes

Author(s): Delilah F.G. Hendriks, Sabine U. Vorrink, Tomas Smutny, Sarah C. Sim, Åsa Nordling, Shahid Ullah, Masaki Kumondai, Barry C. Jones, Inger Johansson, Tommy B. Andersson, Volker M. Lauschke, Magnus Ingelman‐Sundberg
Published in: Clinical Pharmacology & Therapeutics, Issue 108/4, 2020, Page(s) 844-855, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.1860

Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data

Author(s): Maaike van der Lee; William G. Allard; Rolf H. A. M. Vossen; Renee Baak-Pablo; Roberta Menafra; Birgit A. L. M. Deiman; Maarten J. Deenen; Patrick Neven; Inger Johansson; Stefano Gastaldello; Magnus Ingelman-Sundberg; Henk-Jan Guchelaar; Jesse J. Swen; Seyed Yahya Anvar
Published in: VOLUME=13;ISSUE=603;TITLE=Science Translational Medicine, Issue 6, 2021, ISSN 1946-6234
Publisher: American Association for the Advancement of Science
DOI: 10.1126/scitranslmed.abf3637

Can CYP Inhibition Overcome Chemotherapy Resistance?

Author(s): Magnus Ingelman-Sundberg, Volker M. Lauschke
Published in: Trends in Pharmacological Sciences, Issue 41/8, 2020, Page(s) 503-506, ISSN 0165-6147
Publisher: Elsevier BV
DOI: 10.1016/j.tips.2020.05.007

Economic evaluation in psychiatric pharmacogenomics: a systematic review.

Author(s): Karamperis K, Koromina M, Papantoniou P, Skokou M, Kanellakis F, Mitropoulos K, Vozikis A, Müller DJ, Patrinos GP, Mitropoulou C.
Published in: The pharmacogenomics journal, 2021, ISSN 1470-269X
Publisher: Nature Publishing Group
DOI: 10.1038/s41397-021-00249-1

IL15RA and SMAD3 Genetic Variants Predict Overall Survival in Metastatic Colorectal Cancer Patients Treated with FOLFIRI Therapy: A New Paradigm.

Author(s): De Mattia E, Polesel J, Roncato R, Labriet A, Bignucolo A, Gagno S, Buonadonna A, D'Andrea M, Lévesque E, Jonker D, Couture F, Guillemette C, Cecchin E, Toffoli G.
Published in: Cancers, 2021, ISSN 2072-6694
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers13071705

Impact of antipsychotic polypharmacy on nonadherence of oral antipsychotic drugs – A study based on blood sample analyses from 24,239 patients

Author(s): Robert L Smith, Marit Tveito, Lennart Kyllesø, Marin M Jukic, Magnus Ingelman-Sundberg, Ole A Andreassen, Espen Molden
Published in: European Neuropsychopharmacology, Issue 37, 2020, Page(s) 64-69, ISSN 0924-977X
Publisher: Elsevier BV
DOI: 10.1016/j.euroneuro.2020.06.007

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).

Author(s): Matic M, Nijenhuis M, Soree B, de Boer-Veger NJ, Buunk AM, Houwink EJF, Mulder H, Rongen GAPJM, Weide JV, Wilffert B, Swen JJ, Guchelaar HJ, Deneer VHM, van Schaik RHN.
Published in: European journal of human genetics : EJHG, 2021, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00920-y

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Author(s): Zhou Y, Arribas GH, Turku A, Jürgenson T, Mkrtchian S, Krebs K, Wang Y, Svobodova B, Milani L, Schulte G, Korabecny J, Gastaldello S, Lauschke VM.
Published in: Science advances, 2021, ISSN 2375-2548
Publisher: American Association for the Advancement of Science
DOI: 10.1126/sciadv.abi6856

Global Frequencies of Clinically Important HLA Alleles and Their Implications For the Cost‐Effectiveness of Preemptive Pharmacogenetic Testing

Author(s): Yitian Zhou, Kristi Krebs, Lili Milani, Volker M. Lauschke
Published in: Clinical Pharmacology & Therapeutics, 2020, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.1944

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.

Author(s): Lima JJ, Thomas CD, Barbarino J, Desta Z, Van Driest SL, El Rouby N, Johnson JA, Cavallari LH, Shakhnovich V, Thacker DL, Scott SA, Schwab M, Uppugunduri CRS, Formea CM, Franciosi JP, Sangkuhl K, Gaedigk A, Klein TE, Gammal RS, Furuta T.
Published in: Clinical pharmacology and therapeutics, 2021, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.2015

CYP2B6 Functional Variability in Drug Metabolism and Exposure Across Populations-Implication for Drug Safety, Dosing, and Individualized Therapy.

Author(s): Langmia IM, Just KS, Yamoune S, Brockmöller J, Masimirembwa C, Stingl JC.
Published in: Frontiers in genetics, 2021, ISSN 1664-8021
Publisher: Frontiers Media
DOI: 10.3389/fgene.2021.692234

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs.

Author(s): Brouwer JMJL, Nijenhuis M, Soree B, Guchelaar HJ, Swen JJ, van Schaik RHN, Weide JV, Rongen GAPJM, Buunk AM, de Boer-Veger NJ, Houwink EJF, van Westrhenen R, Wilffert B, Deneer VHM, Mulder H.
Published in: European journal of human genetics : EJHG, 2021, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-01004-7

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier

Author(s): Yitian Zhou, Carolina Dagli Hernandez, Volker M. Lauschke
Published in: British Journal of Cancer, 2020, ISSN 0007-0920
Publisher: Nature Publishing Group
DOI: 10.1038/s41416-020-01084-0

CYP2D6 in the Brain: Potential Impact on Adverse Drug Reactions in the Central Nervous System-Results From the ADRED Study.

Author(s): Katja S. Just; Harald Dormann; Mathias Freitag; Marlen Schurig; Miriam Böhme; Michael Steffens; Catharina Scholl; Thomas Seufferlein; Ingo Graeff; Matthias Schwab; Matthias Schwab; Matthias Schwab; Julia C. Stingl
Published in: Frontiers in Pharmacology, Issue 9, 2021, ISSN 1663-9812
Publisher: Frontiers Media S.A.
DOI: 10.3389/fphar.2021.624104

Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle.

Author(s): van der Lee M, Rowell WJ, Menafra R, Guchelaar HJ, Swen JJ, Anvar SY.
Published in: The pharmacogenomics journal, 2022, ISSN 1470-269X
Publisher: Nature Publishing Group
DOI: 10.1038/s41397-021-00259-z

Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study

Author(s): Cathelijne H. van der Wouden, Stefan Böhringer, Erika Cecchin, Ka-Chun Cheung, Cristina Lucía Dávila-Fajardo, Vera H.M. Deneer, Vita Dolžan, Magnus Ingelman-Sundberg, Siv Jönsson, Mats O. Karlsson, Marjolein Kriek, Christina Mitropoulou, George P. Patrinos, Munir Pirmohamed, Emmanuelle Rial-Sebbag, Matthias Samwald, Matthias Schwab, Daniela Steinberger, Julia Stingl, Gere Sunder-Plassmann, Gi
Published in: Pharmacogenetics and Genomics, Issue 30/6, 2020, Page(s) 131-144, ISSN 1744-6872
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1097/fpc.0000000000000405

Evaluation of the CYP2D6 Haplotype Activity Scores Based on Metabolic Ratios of 4,700 Patients Treated With Three Different CYP2D6 Substrates.

Author(s): Jukić MM, Smith RL, Molden E, Ingelman-Sundberg M.
Published in: Clinical pharmacology and therapeutics, 2021, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.2246

Pharmacogenomics in the UK National Health Service: opportunities and challenges.

Author(s): Turner RM, Newman WG, Bramon E, McNamee CJ, Wong WL, Misbah S, Hill S, Caulfield M, Pirmohamed M.
Published in: Pharmacogenomics, 2020, ISSN 1462-2416
Publisher: Ashley Publications Ltd.
DOI: 10.2217/pgs-2020-0091

Pharmacogenomics for Primary Care: An Overview.

Author(s): Rollinson V, Turner R, Pirmohamed M.
Published in: Genes, 2020, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes11111337

The ethnogeographic variability of genetic factors underlying G6PD deficiency

Author(s): iamoglou S, Koromina M, Hishinuma E, Yamazaki S, Tsermpini EE, Kordou Z, Fukunaga K, Chantratita W, Zhou Y, Lauschke VM, Mushiroda T, Hiratsuka M, Patrinos GP.
Published in: Pharmacological research, 2021, ISSN 1043-6618
Publisher: Academic Press
DOI: 10.1016/j.phrs.2021.105904

Diagnostic Test Criteria for HLA Genotyping to Prevent Drug Hypersensitivity Reactions: A Systematic Review of Actionable HLA Recommendations in CPIC and DPWG Guidelines

Author(s): Lisanne E. N. Manson, Jesse J. Swen, Henk-Jan Guchelaar
Published in: Frontiers in Pharmacology, Issue 11, 2020, ISSN 1663-9812
Publisher: Frontiers Media S.A.
DOI: 10.3389/fphar.2020.567048

Characterization of Genetic Heterogeneity in Recurrent Metastases of Renal Cell Carcinoma.

Author(s): Sauter-Meyerhoff C, Bohnert R, Mazzola P, Stühler V, Kandabarau S, Büttner FA, Winter S, Herrmann L, Rausch S, Hennenlotter J, Fend F, Scharpf M, Stenzl A, Ossowski S, Bedke J, Schwab M, Schaeffeler E.
Published in: Cancers, 2021, ISSN 2072-6694
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers13246221

A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of Escitalopram.

Author(s): Line Skute Bråten; Tore Haslemo; Marin M. Jukic; Marin M. Jukic; Maxim Ivanov; Magnus Ingelman-Sundberg; Espen Molden; Marianne Kristiansen Kringen
Published in: Clinical Pharmacology & Therapeutics, Issue 13, 2021, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.2233

A Review of the Important Role of CYP2D6 in Pharmacogenomics.

Author(s): Taylor C, Crosby I, Yip V, Maguire P, Pirmohamed M, Turner RM.
Published in: Genes, 2020, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes11111295

Data-driven personalization of a physiologically based pharmacokinetic model for caffeine: A systematic assessment.

Author(s): Fendt R, Hofmann U, Schneider ARP, Schaeffeler E, Burghaus R, Yilmaz A, Blank LM, Kerb R, Lippert J, Schlender JF, Schwab M, Kuepfer L.
Published in: CPT: pharmacometrics & systems pharmacology, 2021, ISSN 2163-8306
Publisher: Nature Publishing Group
DOI: 10.1002/psp4.12646

Association of CYP2C19 and CYP2D6 Poor and Intermediate Metabolizer Status With Antidepressant and Antipsychotic Exposure: A Systematic Review and Meta-analysis.

Author(s): Milosavljevic F, Bukvic N, Pavlovic Z, Miljevic C, Pešic V, Molden E, Ingelman-Sundberg M, Leucht S, Jukic MM.
Published in: JAMA psychiatry, 2021, ISSN 2168-622X
Publisher: American Medical Association
DOI: 10.1001/jamapsychiatry.2020.3643

Individualized versus Standardized Risk Assessment in Patients at High Risk for Adverse Drug Reactions (The IDrug Randomized Controlled Trial)-Never Change a Running System?

Author(s): Just KS, Scholl C, Boehme M, Kastenmüller K, Just JM, Bleckwenn M, Holdenrieder S, Meier F, Weckbecker K, Stingl JC.
Published in: Pharmaceuticals (Basel, Switzerland), 2021, ISSN 1424-8247
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ph14101056

OpenBioLink: a benchmarking framework for large-scale biomedical link prediction

Author(s): Anna Breit, Simon Ott, Asan Agibetov, Matthias Samwald
Published in: Bioinformatics, Issue 36/13, 2020, Page(s) 4097-4098, ISSN 1367-4803
Publisher: Oxford University Press
DOI: 10.1093/bioinformatics/btaa274

Pharmacometrics-Based Considerations for the Design of a Pharmacogenomic Clinical Trial Assessing Irinotecan Safety.

Author(s): Minichmayr IK, Karlsson MO, Jönsson S.
Published in: Pharmaceutical research, 2021, ISSN 0724-8741
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s11095-021-03024-w

Rates of complete nonadherence among atypical antipsychotic drugs: A study using blood samples from 13,217 outpatients with psychotic disorders.

Author(s): Smith RL, Tveito M, Kyllesø L, Jukic MM, Ingelman-Sundberg M, Andreassen OA, Molden E.
Published in: Schizophrenia research, 2021, ISSN 0920-9964
Publisher: Elsevier BV
DOI: 10.1016/j.schres.2020.11.025

Genotyping for HLA Risk Alleles to Prevent Drug Hypersensitivity Reactions: Impact Analysis.

Author(s): Manson LEN, van den Hout WB, Guchelaar HJ.
Published in: Pharmaceuticals (Basel, Switzerland), 2021, ISSN 1424-8247
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ph15010004

Pharmacogenomics of anticancer drugs: Personalising the choice and dose to manage drug response.

Author(s): Carr DF, Turner RM, Pirmohamed M.
Published in: British journal of clinical pharmacology, 2021, ISSN 0306-5251
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/bcp.14407

Technologies for Pharmacogenomics: A Review.

Author(s): van der Lee M, Kriek M, Guchelaar HJ, Swen JJ.
Published in: Genes, 2020, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes11121456

Physiologically Based Precision Dosing Approach for Drug-Drug-Gene Interactions: A Simvastatin Network Analysis.

Author(s): Wojtyniak JG, Selzer D, Schwab M, Lehr T.
Published in: Clinical pharmacology and therapeutics, 2021, ISSN 0009-9236
Publisher: Nature Publishing Group
DOI: 10.1002/cpt.2111

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