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101. Cardiac Toxicity of Alectinib in Patients With ALK+ Lung Cancer:Outcomes of Cardio-Oncology Follow-Up

Author

Pruis, Melinda A., Veerman, G. D.Marijn, Hassing, H. Carlijne, Lanser, Daan A.C., Paats, Marthe S., van Schaik, Ron H.N., Mathijssen, Ron H.J., Manintveld, Olivier, Dingemans, Anne Marie C., Pruis, Melinda A., Veerman, G. D.Marijn, Hassing, H. Carlijne, Lanser, Daan A.C., Paats, Marthe S., van Schaik, Ron H.N., Mathijssen, Ron H.J., Manintveld, Olivier, and Dingemans, Anne Marie C.

Abstract

Background: Anaplastic lymphoma kinase (ALK) translocations in metastatic non-small cell lung cancer (3% to 7%) predict for response to ALK-inhibitors (eg, alectinib, first line), resulting in a 5-year survival rate of ∼60% and median progression-free survival of 34.8 months. Although the overall toxicity rate of alectinib is acceptable, unexplained adverse events, including edema and bradycardia, may indicate potential cardiac toxicity. Objectives: This study's aim was to investigate the cardiotoxicity profile and exposure–toxicity relationship of alectinib. Methods: Between April 2020 and September 2021, 53 patients with ALK-positive non-small cell lung cancer treated with alectinib were included. Patients starting with alectinib after April 2020 underwent a cardiac work-up at start, at 6 months and at 1 year at the cardio-oncology outpatients' clinic. Patients already receiving alectinib >6 months underwent 1 cardiac evaluation. Bradycardia, edema, and severe alectinib toxicity (grade ≥3 and grade ≥2 adverse events leading to dose modifications) data were collected. Alectinib steady-state trough concentrations were used for exposure–toxicity analyses. Results: Left ventricular ejection fraction remained stable in all patients who underwent an on-treatment cardiac evaluation (n = 34; median 62%; IQR: 58%-64%). Twenty-two patients (42%) developed alectinib-related bradycardia (6 symptomatic bradycardia). One patient underwent a pacemaker implantation for severe symptomatic bradycardia. Severe toxicity was significantly associated with a 35% higher alectinib mean Ctrough (728 vs 539 ng/mL, SD = 83 ng/mL; 1-sided P = 0.015). Conclusions: No patients showed signs of a diminished left ventricular ejection fraction. Alectinib caused more bradycardia than previously reported (42%) with some instances of severe symptomatic bradycardia. Patients with severe toxicity generally had an elevated exposure above the therapeutic threshold.

Published
2023

102. Toward model-informed precision dosing for tamoxifen:A population-pharmacokinetic model with a continuous CYP2D6 activity scale

Author

Agema, Bram C, Buijs, Sanne M, Sassen, Sebastiaan D T, Mürdter, Thomas E, Schwab, Mathias, Koch, Birgit C P, Jager, Agnes, van Schaik, Ron H N, Mathijssen, Ron H J, Koolen, Stijn L W, Agema, Bram C, Buijs, Sanne M, Sassen, Sebastiaan D T, Mürdter, Thomas E, Schwab, Mathias, Koch, Birgit C P, Jager, Agnes, van Schaik, Ron H N, Mathijssen, Ron H J, and Koolen, Stijn L W

Abstract

BACKGROUND: Tamoxifen is important in the adjuvant treatment of breast cancer. A plasma concentration of the active metabolite endoxifen of > 16 nM is associated with a lower risk of breast cancer-recurrence. Since inter-individual variability is high and > 20 % of patients do not reach endoxifen levels > 16 nM with the standard dose tamoxifen, therapeutic drug monitoring is advised. However, ideally, the correct tamoxifen dose should be known prior to start of therapy. Our aim is to develop a population pharmacokinetic (POP-PK) model incorporating a continuous CYP2D6 activity scale to support model informed precision dosing (MIPD) of tamoxifen to determine the optimal tamoxifen starting dose.METHODS: Data from eight different clinical studies were pooled (539 patients, 3661 samples) and used to develop a POP-PK model. In this model, CYP2D6 activity per allele was estimated on a continuous scale. After inclusion of covariates, the model was subsequently validated using an independent external dataset (378 patients). Thereafter, dosing cut-off values for MIPD were determined.RESULTS: A joint tamoxifen/endoxifen POP-PK model was developed describing the endoxifen formation rate. Using a continuous CYP2D6 activity scale, variability in predicting endoxifen levels was decreased by 37 % compared to using standard CYP2D6 genotype predicted phenotyping. After external validation and determination of dosing cut-off points, MIPD could reduce the proportion of patients with subtherapeutic endoxifen levels at from 22.1 % toward 4.8 %.CONCLUSION: Implementing MIPD from the start of tamoxifen treatment with this POP-PK model can reduce the proportion of patients with subtherapeutic endoxifen levels at steady-state to less than 5 %.

Published
2023

103. Capecitabine-induced hand-foot syndrome:A pharmacogenetic study beyond DPYD

Author

de With, Mirjam, van Doorn, Leni, Maasland, Demi C., Mulder, Tessa A.M., Oomen-de Hoop, Esther, Mostert, Bianca, Homs, Marjolein Y.V., El Bouazzaoui, Samira, Mathijssen, Ron H.J., van Schaik, Ron H.N., Bins, Sander, de With, Mirjam, van Doorn, Leni, Maasland, Demi C., Mulder, Tessa A.M., Oomen-de Hoop, Esther, Mostert, Bianca, Homs, Marjolein Y.V., El Bouazzaoui, Samira, Mathijssen, Ron H.J., van Schaik, Ron H.N., and Bins, Sander

Abstract

Aim of the study: Occurrence of hand-foot syndrome (HFS) during capecitabine treatment often results in treatment interruptions (26 %) or treatment discontinuation (17 %), and can severely decrease quality of life. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in genes involved in capecitabine metabolism – other than DPYD – are associated with an increased risk for capecitabine-induced HFS. Methods: Patients treated with capecitabine according to standard of care were enrolled after providing written informed consent for genotyping purposes. Prospectively collected blood samples were used to extract genomic DNA, which was subsequently genotyped for SNPs in CES1, CES2 and CDA. SNPs and clinical baseline factors that were univariably associated with HFS with P ≤ 0.10, were tested in a multivariable model using logistic regression. Results: Of the 446 patients eligible for analysis, 146 (32.7 %) developed HFS, of whom 77 patients (17.3 %) experienced HFS ≥ grade 2. In the multivariable model, CES1 1165–33 C>A (rs2244613, minor allele frequency 19 %) and CDA 266 + 242 A>G (rs10916825, minor allele frequency 35 %) variant allele carriers were at higher risk of HFS ≥ grade 2 (OR 1.888; 95 %CI 1.075–3.315; P = 0.027 and OR 1.865; 95 %CI 1.087–3.200; P = 0.024, respectively). Conclusions: We showed that CES1 1165–33 C>A and CDA 266 + 242 A>G are significantly associated with HFS grade 2 and grade 3 in patients treated with capecitabine. Prospective studies should assess whether this increased risk can be mitigated in carriers of these SNPs, when pre-emptive genotyping is being followed by dose adjustment or by alternative treatment by a fluoropyrimidine that is not substrate to CES1, such as S1.

Published
2023

104. A common germline variant in CYP11B1 is associated with adverse clinical outcome of treatment with abiraterone or enzalutamide

Author

Medisch Oncologische Disciplines, Biostatistiek Onderzoek, Apotheek O&O&O, Cancer, Buck, Stefan A.J., Meertens, Marinda, van Ooijen, Frederiek M.F., Oomen-de Hoop, Esther, de Jonge, Evert, Coenen, Marieke J.H., Bergman, Andries M., Koolen, Stijn L.W., de Wit, Ronald, Huitema, Alwin D.R., van Schaik, Ron H.N., Mathijssen, Ron H.J., Medisch Oncologische Disciplines, Biostatistiek Onderzoek, Apotheek O&O&O, Cancer, Buck, Stefan A.J., Meertens, Marinda, van Ooijen, Frederiek M.F., Oomen-de Hoop, Esther, de Jonge, Evert, Coenen, Marieke J.H., Bergman, Andries M., Koolen, Stijn L.W., de Wit, Ronald, Huitema, Alwin D.R., van Schaik, Ron H.N., and Mathijssen, Ron H.J.

Published
2023

105. Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate

Author

Apotheek Klinische Farmacie, Nijenhuis, Marga, Soree, Bianca, Jama, Wafa O.M., de Boer-Veger, Nienke J., Buunk, Anne Marie, Guchelaar, Henk Jan, Houwink, Elisa J.F., Rongen, Gerard A., van Schaik, Ron H.N., Swen, Jesse J., Touw, Daan, van der Weide, Jan, van Westrhenen, Roos, Deneer, Vera H.M., Risselada, Arne, Apotheek Klinische Farmacie, Nijenhuis, Marga, Soree, Bianca, Jama, Wafa O.M., de Boer-Veger, Nienke J., Buunk, Anne Marie, Guchelaar, Henk Jan, Houwink, Elisa J.F., Rongen, Gerard A., van Schaik, Ron H.N., Swen, Jesse J., Touw, Daan, van der Weide, Jan, van Westrhenen, Roos, Deneer, Vera H.M., and Risselada, Arne

Published
2023

106. Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan (European Journal of Human Genetics, (2023), 31, 9, (982-987), 10.1038/s41431-022-01243-2)

Author

Apotheek Klinische Farmacie, Hulshof, Emma C, Deenen, Maarten J, Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J, Buunk, Anne-Marie, Houwink, Elisa J F, Risselada, Arne, Rongen, Gerard A P J M, van Schaik, Ron H N, Touw, Daan J, van der Weide, Jan, van Westrhenen, Roos, Deneer, Vera H M, Guchelaar, Henk-Jan, Swen, Jesse J, Apotheek Klinische Farmacie, Hulshof, Emma C, Deenen, Maarten J, Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J, Buunk, Anne-Marie, Houwink, Elisa J F, Risselada, Arne, Rongen, Gerard A P J M, van Schaik, Ron H N, Touw, Daan J, van der Weide, Jan, van Westrhenen, Roos, Deneer, Vera H M, Guchelaar, Henk-Jan, and Swen, Jesse J

Published
2023

107. Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan

Author

Apotheek Klinische Farmacie, Hulshof, Emma C., Deenen, Maarten J., Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J., Buunk, Anne Marie, Houwink, Elisa J.F., Risselada, Arne, Rongen, Gerard A.P.J.M., van Schaik, Ron H.N., Touw, Daan J., van der Weide, Jan, van Westrhenen, Roos, Deneer, Vera H.M., Guchelaar, Henk Jan, Swen, Jesse J., Apotheek Klinische Farmacie, Hulshof, Emma C., Deenen, Maarten J., Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J., Buunk, Anne Marie, Houwink, Elisa J.F., Risselada, Arne, Rongen, Gerard A.P.J.M., van Schaik, Ron H.N., Touw, Daan J., van der Weide, Jan, van Westrhenen, Roos, Deneer, Vera H.M., Guchelaar, Henk Jan, and Swen, Jesse J.

Published
2023

108. Influence of germline variations in drug transporters ABCB1 and ABCG2 on intracerebral osimertinib efficacy in patients with non-small cell lung cancer

Author

Biostatistiek Onderzoek, Externen Med. Onco, Zorgeenheid Vaatchirurgie Medisch, Apotheek O&O&O, Cancer, Veerman, G D Marijn, Boosman, Rene J, Jebbink, Merel, Oomen-de Hoop, Esther, van der Wekken, Anthonie J, Bahce, Idris, Hendriks, Lizza E L, Croes, Sander, Steendam, Christi M J, de Jonge, Evert, Koolen, Stijn L W, Steeghs, Neeltje, van Schaik, Ron H N, Smit, Egbert F, Dingemans, Anne-Marie C, Huitema, Alwin D R, Mathijssen, Ron H J, Biostatistiek Onderzoek, Externen Med. Onco, Zorgeenheid Vaatchirurgie Medisch, Apotheek O&O&O, Cancer, Veerman, G D Marijn, Boosman, Rene J, Jebbink, Merel, Oomen-de Hoop, Esther, van der Wekken, Anthonie J, Bahce, Idris, Hendriks, Lizza E L, Croes, Sander, Steendam, Christi M J, de Jonge, Evert, Koolen, Stijn L W, Steeghs, Neeltje, van Schaik, Ron H N, Smit, Egbert F, Dingemans, Anne-Marie C, Huitema, Alwin D R, and Mathijssen, Ron H J

Published
2023

109. The Sixth European Society of Pharmacogenomics and Personalised Therapy Congress

Author

Van Schaik, Ron H.N., Manolopoulos, Vangelis G., Daly, Ann K., Niemi, Mikko, Zukic, Branka, Patrinos, George P., Primorac, Dragan, Swen, Jesse J., Ingelman-Sundberg, Magnus, Morris, Tiffany, Molden, Espen, Müller, Daniel, Pavlovic, Sonja, Russmann, Stefan, Ansari, Marc, Henricks, Linda M., Van Den Broek, Wout, Florindi, Francesco, Bozina, Nada, Akin, Demet, Christrup, Lona, Llerena, Adrian, Sipeky, Cilla, Stankovic, Sanja, Van Schaik, Ron H.N., Manolopoulos, Vangelis G., Daly, Ann K., Niemi, Mikko, Zukic, Branka, Patrinos, George P., Primorac, Dragan, Swen, Jesse J., Ingelman-Sundberg, Magnus, Morris, Tiffany, Molden, Espen, Müller, Daniel, Pavlovic, Sonja, Russmann, Stefan, Ansari, Marc, Henricks, Linda M., Van Den Broek, Wout, Florindi, Francesco, Bozina, Nada, Akin, Demet, Christrup, Lona, Llerena, Adrian, Sipeky, Cilla, and Stankovic, Sanja

Abstract

On 8-9 November 2022, the European Society of Pharmacogenomics and Personalised Therapy organized its sixth biennial congress, in Belgrade, Serbia (congress website: www.sspt.rs). The congress aimed to address the current status and future perspectives of pharmacogenomics, share latest knowledge in the field of precision medicine and showcase the implementation of clinical applications in pharmacogenomics/pharmacogenetics. The 2 day congress consisted of 17 lectures given by key-opinion leaders and included a poster session plus discussions. The meeting was a great success by generating an informal environment and enabling the exchange of information between 162 participants from 16 different countries.

Published
2023

111. Test Pricing and Reimbursement in Genomic Medicine : Towards a General Strategy

Author

Vozikis, Athanassios, Cooper, David N., Mitropoulou, Christina, Kambouris, Manousos E., Brand, Angela, Dolzan, Vita, Fortina, Paolo, Innocenti, Federico, Lee, Ming Ta Michael, Leyens, Lada, Macek, Milan, Al-Mulla, Fahd, Prainsack, Barbara, Squassina, Alessio, Taruscio, Domenica, van Schaik, Ron H., Vayena, Effy, Williams, Marc S., and Patrinos, George P.

Published
2016

112. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Author

Conti, David V., Darst, Burcu F., Moss, Lilit C., Saunders, Edward J., Sheng, Xin, Chou, Alisha, Schumacher, Fredrick R., Olama, Ali Amin Al, Benlloch, Sara, Dadaev, Tokhir, Brook, Mark N., Sahimi, Ali, Hoffmann, Thomas J., Takahashi, Atushi, Matsuda, Koichi, Momozawa, Yukihide, Fujita, Masashi, Muir, Kenneth, Lophatananon, Artitaya, Wan, Peggy, Le Marchand, Loic, Wilkens, Lynne R., Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., Cybulski, Cezary, Wokołorczyk, Dominika, Lubiński, Jan, Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Nordestgaard, Børge G., Nielsen, Sune F., Weischer, Maren, Bojesen, Stig E., Røder, Martin Andreas, Iversen, Peter, Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Horvath, Lisa, Clements, Judith A., Tilley, Wayne, Risbridger, Gail P., Gronberg, Henrik, Aly, Markus, Szulkin, Robert, Eklund, Martin, Nordström, Tobias, Pashayan, Nora, Dunning, Alison M., Ghoussaini, Maya, Travis, Ruth C., Key, Tim J., Riboli, Elio, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Albanes, Demetrius, Weinstein, Stephanie J., Mucci, Lorelei A., Giovannucci, Edward, Lindstrom, Sara, Kraft, Peter, Hunter, David J., Penney, Kathryn L., Turman, Constance, Tangen, Catherine M., Goodman, Phyllis J., Thompson, Jr., Ian M., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Parent, Marie-Élise, Stanford, Janet L., Ostrander, Elaine A., Geybels, Milan S., Koutros, Stella, Freeman, Laura E. Beane, Stampfer, Meir, Wolk, Alicja, Håkansson, Niclas, Andriole, Gerald L., Hoover, Robert N., Machiela, Mitchell J., Sørensen, Karina Dalsgaard, Borre, Michael, Blot, William J., Zheng, Wei, Yeboah, Edward D., Mensah, James E., Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Wu, Yudong, Zhao, Shan-Chao, Sun, Zan, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., West, Catharine M. L., Burnet, Neil, Barnett, Gill, Maier, Christiane, Schnoeller, Thomas, Luedeke, Manuel, Kibel, Adam S., Drake, Bettina F., Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, John, Esther M., Grindedal, Eli Marie, Maehle, Lovise, Khaw, Kay-Tee, Ingles, Sue A., Stern, Mariana C., Vega, Ana, Gómez-Caamaño, Antonio, Fachal, Laura, Rosenstein, Barry S., Kerns, Sarah L., Ostrer, Harry, Teixeira, Manuel R., Paulo, Paula, Brandão, Andreia, Watya, Stephen, Lubwama, Alexander, Bensen, Jeannette T., Fontham, Elizabeth T. H., Mohler, James, Taylor, Jack A., Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Cannon-Albright, Lisa, Teerlink, Craig C., Huff, Chad D., Strom, Sara S., Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Kaneva, Radka, Slavov, Chavdar, Mitev, Vanio, Leach, Robin J., Weaver, Brandi, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Saum, Kai-Uwe, Klein, Eric A., Hsing, Ann W., Kittles, Rick A., Murphy, Adam B., Logothetis, Christopher J., Kim, Jeri, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, Isaacs, William B., Nemesure, Barbara, Hennis, Anselm J. M., Carpten, John, Pandha, Hardev, Michael, Agnieszka, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Xu, Jianfeng, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Newcomb, Lisa F., Lin, Daniel W., Fowke, Jay H., Neslund-Dudas, Christine, Rybicki, Benjamin A., Gamulin, Marija, Lessel, Davor, Kulis, Tomislav, Usmani, Nawaid, Singhal, Sandeep, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Bush, William S., Aldrich, Melinda C., Crawford, Dana C., Srivastava, Shiv, Cullen, Jennifer C., Petrovics, Gyorgy, Casey, Graham, Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Hu, Jennifer J., Sanderson, Maureen, Varma, Rohit, McKean-Cowdin, Roberta, Torres, Mina, Mancuso, Nicholas, Berndt, Sonja I., Van Den Eeden, Stephen K., Easton, Douglas F., Chanock, Stephen J., Cook, Michael B., Wiklund, Fredrik, Nakagawa, Hidewaki, Witte, John S., Eeles, Rosalind A., Kote-Jarai, Zsofia, and Haiman, Christopher A.

Published
2021
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113. Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19and non-SSRI/non-TCA antidepressants

Author

Beunk, Lianne, Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J., Buunk, Anne-Marie, Guchelaar, Henk-Jan, Houwink, Elisa J. F., Risselada, Arne, Rongen, Gerard A. P. J. M., van Schaik, Ron H. N., Swen, Jesse J., Touw, Daan, Deneer, Vera H. M., and van Westrhenen, Roos

Abstract

The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate pharmacogenetics implementation in clinical practice by developing evidence-based guidelines to optimize pharmacotherapy based on pharmacogenetic test results. The current guideline describes the gene-drug interaction between CYP2D6and venlafaxine, mirtazapine and duloxetine. In addition, the interaction between CYP2C19and mirtazapine and moclobemide is presented. The DPWG identified a gene-drug interaction that requires therapy adjustment for CYP2D6and venlafaxine. However, as the side effects do not appear to be related to plasma concentrations, it is not possible to offer a substantiated advice for dose reduction. Therefore, the DPWG recommends avoiding venlafaxine for CYP2D6poor and intermediate metabolisers. Instead, an alternative antidepressant, which is not, or to a lesser extent, metabolized by CYP2D6 is recommended. When it is not possible to avoid venlafaxine and side effects occur, it is recommended to reduce the dose and monitor the effect and side effects or plasma concentrations. No action is required for ultra-rapid metabolisers as kinetic effects are minimal and no clinical effect has been demonstrated. In addition, a gene-drug interaction was identified for CYP2D6and mirtazapine and CYP2C19and moclobemide, but no therapy adjustment is required as no effect regarding effectiveness or side effects has been demonstrated for these gene-drug interactions. Finally, no gene-drug interaction and need for therapy adjustment between CYP2C19and mirtazapine and CYP2D6and duloxetine were identified. The DPWG classifies CYP2D6genotyping as being “potentially beneficial” for venlafaxine, indicating that genotyping prior to treatment can be considered on an individual patient basis.

Published
2024
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114. Therapeutic Drug Monitoring of Tacrolimus-Personalized Therapy: Second Consensus Report

Author

Brunet, Mercè, van Gelder, Teun, Åsberg, Anders, Haufroid, Vincent, Hesselink, Dennis A., Langman, Loralie, Lemaitre, Florian, Marquet, Pierre, Seger, Christoph, Shipkova, Maria, Vinks, Alexander, Wallemacq, Pierre, Wieland, Eberhard, Woillard, Jean Baptiste, Barten, Markus J., Budde, Klemens, Colom, Helena, Dieterlen, Maja-Theresa, Elens, Laure, Johnson-Davis, Kamisha L., Kunicki, Paweł K., MacPhee, Iain, Masuda, Satohiro, Mathew, Binu S., Millán, Olga, Mizuno, Tomoyuki, Moes, Dirk-Jan A. R., Monchaud, Caroline, Noceti, Ofelia, Pawinski, Tomasz, Picard, Nicolas, van Schaik, Ron, Sommerer, Claudia, Vethe, Nils Tore, de Winter, Brenda, Christians, Uwe, and Bergan, Stein

Published
2019
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115. High-Frequency Biomarker Measurements of Troponin, NT-proBNP, and C-Reactive Protein for Prediction of New Coronary Events After Acute Coronary Syndrome: BIOMArCS Study

Author

Oemrawsingh, Rohit M., Akkerhuis, K. Martijn, de Mulder, Maarten, Umans, Victor A., Kietselaer, Bas, Schotborgh, Carl, Ronner, Eelko, Lenderink, Timo, Liem, Anho, Haitsma, David, van der Harst, Pim, Asselbergs, Folkert W., Maas, Arthur, Oude Ophuis, Anton J., Ilmer, Ben, Dijkgraaf, Rene, de Winter, Robbert J., Kie The, S. Hong, Wardeh, Alexander J., Hermans, Walter, Cramer, Etienne, van Schaik, Ron H., Hoefer, Imo E., Doevendans, Pieter A., Simoons, Maarten L., and Boersma, Eric

Published
2019
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116. Contributors

Author

Bernath, Viviana Ada, primary, Al-Mulla, Fahd, additional, Alvarez, Carolina, additional, Alvarez, Karin, additional, Brand, Angela, additional, Cock-Rada, Alicia Maria, additional, Carvallo, Pilar, additional, Cooper, David N., additional, de Miranda, Debora M., additional, Dissanayake, Vajira H.W., additional, Dolzan, Vita, additional, Domínguez, Mev, additional, Espinosa Jovel, Camilo A., additional, Forero, Diego A., additional, Fortina, Paolo, additional, González-Giraldo, Yeimy, additional, Innocenti, Federico, additional, Katsila, Theodora, additional, Lee, Ming T.M., additional, Lopez-Correa, Catalina, additional, Lopez-Leon, Sandra, additional, Macek, Milan, additional, Mitropoulos, Konstantinos, additional, Mitropoulou, Christina, additional, Mpitsakos, Anastasios, additional, Ossa Gomez, Carlos Andres, additional, Patrinos, George P., additional, Piñero, Mariana Herrera, additional, Prainsack, Barbara, additional, Sirisena, Nirmala D., additional, Squassina, Alessio, additional, Taruscio, Domenica, additional, Urriago, Hermes, additional, van Schaik, Ron H., additional, Vayena, Effy, additional, Vozikis, Athanassios, additional, Wang, Wei, additional, Williams, Marc S., additional, and Ylstra, Bauke, additional

Published
2018
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117. The Genomic Medicine Alliance: A Global Effort to Facilitate the Introduction of Genomics into Healthcare in Developing Nations

Author

Cooper, David N., primary, Mitropoulou, Christina, additional, Brand, Angela, additional, Dolzan, Vita, additional, Fortina, Paolo, additional, Innocenti, Federico, additional, Lee, Ming T.M., additional, Macek, Milan, additional, Mitropoulos, Konstantinos, additional, Al-Mulla, Fahd, additional, Prainsack, Barbara, additional, van Schaik, Ron H., additional, Squassina, Alessio, additional, Taruscio, Domenica, additional, Vayena, Effy, additional, Vozikis, Athanassios, additional, Williams, Marc S., additional, Ylstra, Bauke, additional, and Patrinos, George P., additional

Published
2018
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122. Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate

Author

Nijenhuis, Marga, primary, Soree, Bianca, additional, Jama, Wafa O. M., additional, de Boer-Veger, Nienke J., additional, Buunk, Anne Marie, additional, Guchelaar, Henk-Jan, additional, Houwink, Elisa J. F., additional, Rongen, Gerard A., additional, van Schaik, Ron H. N., additional, Swen, Jesse J., additional, Touw, Daan, additional, van der Weide, Jan, additional, van Westrhenen, Roos, additional, Deneer, Vera H. M., additional, and Risselada, Arne, additional

Published
2022
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124. Effects of CYP3A4*22 and CYP3A5 on clinical outcome in patients treated with ticagrelor for ST-segment elevation myocardial infarction: POPular Genetics sub-study

Author

Azzahhafi, Jaouad, primary, Bergmeijer, Thomas O., additional, van den Broek, Wout W. A., additional, Chan Pin Yin, Dean R. P. P., additional, Rayhi, Senna, additional, Peper, Joyce, additional, Bor, Willem L., additional, Claassens, Daniel M. F., additional, van Schaik, Ron H. N., additional, and ten Berg, Jurriën M., additional

Published
2022
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126. Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan

Author

Hulshof, Emma C., primary, Deenen, Maarten J., additional, Nijenhuis, Marga, additional, Soree, Bianca, additional, de Boer-Veger, Nienke J., additional, Buunk, Anne-Marie, additional, Houwink, Elisa J. F., additional, Risselada, Arne, additional, Rongen, Gerard A. P. J. M., additional, van Schaik, Ron H. N., additional, Touw, Daan J., additional, van der Weide, Jan, additional, van Westrhenen, Roos, additional, Deneer, Vera H. M., additional, Guchelaar, Henk-Jan, additional, and Swen, Jesse J., additional

Published
2022
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130. Screening and prostate cancer mortality: results of the European Randomised Study of Screening for Prostate Cancer (ERSPC) at 13 years of follow-up

Author

Schröder, Fritz H, Hugosson, Jonas, Roobol, Monique J, Tammela, Teuvo L J, Zappa, Marco, Nelen, Vera, Kwiatkowski, Maciej, Lujan, Marcos, Määttänen, Liisa, Lilja, Hans, Denis, Louis J, Recker, Franz, Paez, Alvaro, Bangma, Chris H, Carlsson, Sigrid, Puliti, Donella, Villers, Arnauld, Rebillard, Xavier, Hakama, Matti, Stenman, Ulf-Hakan, Kujala, Paula, Taari, Kimmo, Aus, Gunnar, Huber, Andreas, van der Kwast, Theo H, van Schaik, Ron H N, de Koning, Harry J, Moss, Sue M, and Auvinen, Anssi

Published
2014
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132. Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate

Author

van der Pol, Karel H., primary, Nijenhuis, Marga, additional, Soree, Bianca, additional, de Boer-Veger, Nienke J., additional, Buunk, Anne Marie, additional, Guchelaar, Henk-Jan, additional, Risselada, Arne, additional, van Schaik, Ron H. N., additional, Swen, Jesse J., additional, Touw, Daan, additional, van der Weide, Jan, additional, van Westrhenen, Roos, additional, Deneer, Vera H. M., additional, Houwink, Elisa J. F., additional, and Rongen, Gerard A., additional

Published
2022
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138. The Impact of Pharmacogenetics on Pharmacokinetics and Pharmacodynamics in Neonates and Infants: A Systematic Review

Author

Yalçın,Nadir, Flint,Robert B, van Schaik,Ron HN, Simons,Sinno HP, and Allegaert,Karel

Subjects
Pharmacogenomics and Personalized Medicine
Abstract

Nadir Yalçin,1,2 Robert B Flint,2,3 Ron HN van Schaik,3,4 Sinno HP Simons,3 Karel Allegaert2,5– 7 1Department of Clinical Pharmacy, Faculty of Pharmacy, Hacettepe University, Ankara, Turkey; 2Department of Hospital Pharmacy, Erasmus MC, Rotterdam, the Netherlands; 3Division of Neonatology, Department of Pediatrics, Erasmus MC, Rotterdam, the Netherlands; 4Department of Clinical Chemistry, Erasmus MC, Rotterdam, the Netherlands; 5Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium; 6Department of Development and Regeneration, KU Leuven, Leuven, Belgium; 7Child and Youth Institute, KU Leuven, Leuven, BelgiumCorrespondence: Karel Allegaert, Neonatal Intensive Care Unit, UZ Leuven, Herestraat 49, Leuven, 3000, Belgium, Tel +32-016-342020, Fax +32-016-343209, Email karel.allegaert@uzleuven.beAbstract: In neonates, pharmacogenetics has an additional layer of complexity. This is because in addition to genetic variability in genes that code for proteins relevant to clinical pharmacology, there are rapidly maturational changes in these proteins. Consequently, pharmacotherapy in neonates has unique challenges. To provide a contemporary overview on pharmacogenetics in neonates, we conducted a systematic review to identify, describe and quantify the impact of pharmacogenetics on pharmacokinetics and -dynamics in neonates and infants (PROSPERO, CRD42022302029). The search was performed in Medline, Embase, Web of Science and Cochrane, and was extended by a PubMed search on the ‘top 100 Medicines’ (medicine + newborn/infant + pharmacogen*) prescribed to neonates. Following study selection (including data in infants, PGx related) and quality assessment (Newcastle–Ottawa scale, Joanna Briggs Institute tool), 55/789 records were retained. Retained records relate to metabolizing enzymes involved in phase I [cytochrome P450 (CYP1A2, CYP2A6, CYP2B6, CYP2C8/C9/C18, CYP2C19, CYP2D6, CYP3A5, CYP2E1)], phase II [glutathione-S-transferases, N-acetyl transferases, UDP-glucuronosyl-transferase], transporters [ATP-binding cassette transporters, organic cation transporters], or receptor/post-receptor mechanisms [opioid related receptor and post-receptor mechanisms, tumor necrosis factor, mitogen-activated protein kinase 8, vitamin binding protein diplotypes, corticotrophin-releasing hormone receptor-1, nuclear receptor subfamily-1, vitamin K epoxide reductase complex-1, and angiotensin converting enzyme variants]. Based on the available overview, we conclude that the majority of reported pharmacogenetic studies explore and extrapolate observations already described in older populations. Researchers commonly try to quantify the impact of these polymorphisms in small datasets of neonates or infants. In a next step, pharmacogenetic studies in neonatal life should go beyond confirmation of these associations and explore the impact of pharmacogenetics as a covariate limited to maturation of neonatal life (ie, fetal malformations, breastfeeding or clinical syndromes). The challenge is to identify the specific factors, genetic and non-genetic, that contribute to the best benefit/risk balance.Keywords: developmental pharmacology, infant, ontogeny, child development, genetic variation

Published
2022

141. EPMA-World Congress 2015: Bonn, Germany. 3-5 September 2015

Author

Abraham, Jella-Andrea, Golubnitschaja, Olga, Akhmetov, Ildar, Andrews, Russell J., Quintana, Leonidas, Andrews, Russell J., Baban, Babak, Liu, Jun Yao, Qin, Xu, Wang, Tailing, Mozaffari, Mahmood S., Bati, Viktoriia V., Meleshko, Tamara V., Levchuk, Olga B., Boyko, Nadiya V., Bauer, Joanna, Boerner, Ewa, Podbielska, Halina, Bomba, Alojz, Petrov, Viktor O., Drobnych, Volodymyr G., Bubnov, Rostyslav V., Bykova, Oksana M., Boyko, Nadiya V., Brunner-La Rocca, Hans-Peter, Fleischhacker, Lutz, Golubnitschaja, Olga, Heemskerk, Frank, Helms, Thomas, Jaarsma, Tiny, Kinkorová, Judita, Ramaekers, Jan, Ruff, Peter, Schnur, Ivana, Vanoli, Emilio, Verdu, Jose, Brunner-La Rocca, Hans-Peter, Bubnov, Rostyslav V., Grabovetskyi, Sergiy A., Mykhalchenko, Olena M., Tymoshok, Natalia O., Shcherbakov, Oleksandr B., Semeniv, Igor P., Spivak, Mykola Y., Bubnov, Rostyslav V., Ostapenko, Tetyana V., Bubnov, Rostyslav V., Kobyliak, Nazarii M., Zholobak, Nadiya M., Spivak, Mykola Ya., Cauchi, John Paul, Cherepakhin, Dmitrii, Bakay, Marina, Borovikov, Artem, Suchkov, Sergey, Cieślik, Barbara, Migasiewicz, Agnieszka, Podbielska, Maria-Luiza, Pelleter, Markus, Giemza, Agnieszka, Podbielska, Halina, Cirak, Sebahattin, Del Re, Marzia, Bordi, Paola, Citi, Valentina, Palombi, Marta, Pinto, Carmine, Tiseo, Marcello, Danesi, Romano, Einhorn, Lukas, Fazekas, Judit, Muhr, Martina, Schoos, Alexandra, Panakova, Lucia, Herrmann, Ina, Manzano-Szalai, Krisztina, Oida, Kumiko, Fiebiger, Edda, Singer, Josef, Jensen-Jarolim, Erika, Elnar, Arpiné A., Ouamara, Nadia, Boyko, Nadiya, Coumoul, Xavier, Antignac, Jean-Philippe, Le Bizec, Bruno, Eppe, Gauthier, Renaut, Jenny, Bonn, Torsten, Guignard, Cédric, Ferrante, Margherita, Chiusano, Maria Liusa, Cuzzocrea, Salvatore, O’Keeffe, Gerard, Cryan, John, Bisson, Michelle, Barakat, Amina, Hmamouchi, Ihsane, Zawia, Nasser, Kanthasamy, Anumantha, Kisby, Glen E., Alves, Rui, Pérez, Oscar Villacañas, Burgard, Kim, Spencer, Peter, Bomba, Norbert, Haranta, Martin, Zaitseva, Nina, May, Irina, Grojean, Stéphanie, Body-Malapel, Mathilde, Harari, Florencia, Harari, Raul, Yeghiazaryan, Kristina, Golubnitschaja, Olga, Calabrese, Vittorio, Nemos, Christophe, Soulimani, Rachid, Evsevyeva, Maria E., Mishenko, Elena A., Kumukova, Zurida V., Chudnovsky, Evgeniy V., Smirnova, Tatyana A., Evsevyeva, Maria E., Ivanova, Ludmila V., Eremin, Michail V., Rostovtseva, Maria V., Evsevyeva, Maria E., Eremin, Michail V., Koshel, Vladimir I., Sergeeva, Oksana V., Konovalova, Nadesgda M., Girotra, Shantanu, Golubnitschaja, Olga, Golubnitschaja, Olga, Debald, Manuel, Kuhn, Walther, Yeghiazaryan, Kristina, Bubnov, Rostyslav V., Goncharenko, Vadym M., Lushchyk, Ulyana, Grech, Godfrey, Konieczka, Katarzyna, Golubnitschaja, Olga, Erwich, Jan Jaap, Costigliola, Vincenzo, Yeghiazaryan, Kristina, Gembruch, Ulrich, Goncharenko, Vadym M., Beniuk, Vasyl O., Kalenska, Olga V., Bubnov, Rostyslav V., Goncharenko, Vadym M., Beniuk, Vasyl O., Bubnov, Rostyslav V., Melnychuk, Olga, Gorbacheva, Irina A., Orekhova, Lyudmila Y., Tachalov, Vadim V., Grechanyk, Olena I., Abdullaiev, Rizvan Ya., Bubnov, Rostyslav V., Hagan, Suzanne, Martin, Eilidh, Pearce, Ian, Oliver, Katherine, Haytac, Cenk, Salimov, Fariz, Yoksul, Servin, Kunin, Anatoly A., Moiseeva, Natalia S., Herrera-Imbroda, Bernardo, del Río-González, Sergio, Lara, Maria Fernanda, Angulo, Antonia, Machuca Santa-Cruz, Francisco Javier, Herrera-Imbroda, Bernardo, del Río-González, Sergio, Lara, Maria Fernanda, Ionescu, John, Isamulaeva, Alfiya Z., Kunin, Anatoly A., Magomedov, Shamil Sh., Isamulaeva, Aida I., Josifova, Tatjana, Kapalla, Marko, Kubáň, Juraj, Golubnitschaja, Olga, Costigliola, Vincenzo, Costigliola, Vincenzo, Kapalla, Marko, Kubáň, Juraj, Golubnitschaja, Olga, Kent, Anthony, Fisher, Tom, Dias, Tilak, Kinkorová, Judita, Topolčan, Ondřej, Kohl, Matthias, Kunin, Anatoly A., Moiseeva, Natalia S., Kurchenko, Andrii I., Beniuk, Vasyl A., Goncharenko, Vadym M., Bubnov, Rostyslav V., Boyko, Nadiya V., Strokan, Andriy M., Kzhyshkowska, Julia, Gudima, Alexandru, Stankevich, Ksenia S., Filimonov, Victor D., Klüter, Harald, Mamontova, Evgeniya M., Tverdokhlebov, Sergei I., Lushchyk, Ulyana B., Novytskyy, Viktor V., Babii, Igor P., Lushchyk, Nadiya G., Riabets, Lyudmyla S., Legka, Ivanna I., Marcus-Kalish, Mira, Mitelpunkt, Alexis, Galili, Tal, Shachar, Neta, Benjamini, Yoav, Migasiewicz, Agnieszka, Pelleter, Markus, Bauer, Joanna, Dereń, Ewelina, Podbielska, Halina, Moiseeva, Natalia S., Kunin, Anatoly A., Kunin, Dmitry A., Moiseeva, Natalia S., Ippolitov, Yury A., Kunin, Dmitry A., Morozov, Alexei N., Chirkova, Natalia V., Aliev, Nakhid T., Mozaffari, Mahmood S., Liu, Jun Yao, Baban, Babak, Mozaffari, Mahmood S., Liu, Jun Yao, Abdelsayed, Rafik, Shi, Xing-Ming, Baban, Babak, Novák, Jaroslav, Štork, Milan, Zeman, Václav, Oosterhuis, Wytze P., Theodorsson, Elvar, Orekhova, Lyudmila Y., Kudryavtseva, Tatyana V., Isaeva, Elena R., Tachalov, Vadim V., Loboda, Ekaterina S., Pazzagli, Mario, Malentacchi, Francesca, Mancini, Irene, Brandslund, Ivan, Vermeersch, Pieter, Schwab, Matthias, Marc, Janja, van Schaik, Ron H. N., Siest, Gerard, Theodorsson, Elvar, Di Resta, Chiara, Pleva, Matus, Juhar, Jozef, Pleva, Matus, Juhar, Jozef, Polívka jr., Jiří, Janků, Filip, Pešta, Martin, Doležal, Jan, Králíčková, Milena, Polívka, Jiří, Polívka, Jiří, Lukešová, Alena, Müllerová, Nina, Ševčík, Petr, Rohan, Vladimír, Richter, Kneginja, Miloseva, Lence, Niklewski, Günter, Richter, Kneginja, Acker, Jens, Niklewski, Guenter, Safonicheva, Olga, Costigliola, Vincenzo, Safonicheva, Olga, Sautin, Maxim, Sinelnikova, Janna, Suchkov, Sergey, Secer, Songül, von Bandemer, Stephan, Shapira, Niva, Shcherbakov, Aleksandr, Kunin, Anatoly A., Moiseeva, Natalia S., Shumilovich, Bogdan R., Lipkind, Zhanna, Vorobieva, Yulia, Kunin, Dmitry A., Sudareva, Anastasiia V., Smokovski, Ivica, Milenkovic, Tatjana, Solís-Herrera, Arturo, Arias-Esparza, María del Carmen, Suchkov, Sergey, Sridhar, Krishna Chander, Golubnitschaja, Olga, Studneva, Maria, Song, Sihong, Creeden, James, Мandrik, Мark, Suchkov, Sergey, Theodorsson, Elvar, Tofail, Syed A. M., Topolčan, Ondřej, Kinkorová, Judita, Fiala, Ondřej, Karlíková, Marie, Svobodová, Šárka, Kučera, Radek, Fuchsová, Radka, Třeška, Vladislav, Šimánek, Václav, Pecen, Ladislav, Šoupal, Jan, Svačina, Štěpán, Tretyak, Evgeniya, Studneva, Maria, Suchkov, Sergey, Trovato, Francesca M., Martines, Giuseppe Fabio, Brischetto, Daniela, Catalano, Daniela, Musumeci, Giuseppe, Trovato, Guglielmo M., Tsangaris, George Th., Anagnostopoulos, Athanasios K., Tsangaris, George Th., Anagnostopoulos, Athanasios K., Verdú, José, Gutiérrez, German, Rovira, Jordi, Martinez, Marta, Fleischhacker, Lutz, Green, Donna, Garson, Arthur, Tamburini, Elena, Cuomo, Stefano, Martinez-Leon, Juan, Abrisqueta, Teresa, Brunner-La Rocca, Hans-Peter, Jaarsma, Tiny, Arredondo, Teresa, Vera, Cecilia, Fico, Giuseppe, Golubnitschaja, Olga, Arribas, Fernando, Onderco, Martina, Vara, Isabel, Verdú, José, Sambo, Francesco, Di Camillo, Barbara, Cobelli, Claudio, Facchinetti, Andrea, Fico, Giuseppe, Bellazzi, Riccardo, Sacchi, Lucia, Dagliati, Arianna, Segnani, Daniele, Tibollo, Valentina, Ottaviano, Manuel, Gabriel, Rafael, Groop, Leif, Postma, Jacqueline, Martinez, Antonio, Hakaste, Liisa, Tuomi, Tiinamaija, Zarkogianni, Konstantia, Volchek, Igor, Pototskaya, Nina, Petrov, Andrey, Volchek, Igor, Pototskaya, Nadezhda, Petrov, Andrey, Voog-Oras, Ülle, Jagur, Oksana, Leibur, Edvitar, Niibo, Priit, Jagomägi, Triin, Nguyen, Minh Son, Pruunsild, Chris, Piikov, Dagmar, Saag, Mare, Wang, Wei, Wang, Wei, Weinhäusel, Andreas, Pulverer, Walter, Wielscher, Matthias, Hofner, Manuela, Noehammer, Christa, Soldo, Regina, Hettegger, Peter, Gyurjan, Istvan, Kulovics, Ronald, Schönthaler, Silvia, Beikircher, Gabriel, Kriegner, Albert, Pabinger, Stephan, Vierlinger, Klemens, Yüzbaşıoğlu, Ayşe, Özgüç, Meral, EFLM, on behalf of ZENITH consortium, and on behalf of MOSAIC consortium

Published
2016
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143. Dutch National Round Robin Trial on Plasma-Derived Circulating Cell-Free DNA Extraction Methods Routinely Used in Clinical Pathology for Molecular Tumor Profiling

Author

van der Leest, Paul, primary, Ketelaar, Emma M, additional, van Noesel, Carel J M, additional, van den Broek, Daan, additional, van Boerdonk, Robert A A, additional, Deiman, Birgit, additional, Rifaela, Naomi, additional, van der Geize, Robert, additional, Huijsmans, Cornelis J J, additional, Speel, Ernst Jan M, additional, Geerlings, Maartje J, additional, van Schaik, Ron H N, additional, Jansen, Maurice P H M, additional, Dane-Vogelaar, Ria, additional, Driehuis, Else, additional, Leers, Mathie P G, additional, Sidorenkov, Grigory, additional, Tamminga, Menno, additional, van Kempen, Léon C, additional, and Schuuring, Ed, additional

Published
2022
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144. Dihydropyrimidine Dehydrogenase Phenotyping Using Pretreatment Uracil: A Note of Caution Based on a Large Prospective Clinical Study

Author

de With, Mirjam, primary, Knikman, Jonathan, additional, de Man, Femke M., additional, Lunenburg, Carin A. T. C., additional, Henricks, Linda M., additional, van Kuilenburg, André B. P., additional, Maring, Jan G., additional, van Staveren, Maurice C., additional, de Vries, Niels, additional, Rosing, Hilde, additional, Beijnen, Jos H., additional, Pluim, Dick, additional, Modak, Anil, additional, Imholz, Alex L. T., additional, van Schaik, Ron H. N., additional, Schellens, Jan H. M., additional, Gelderblom, Hans, additional, Cats, Annemieke, additional, Guchelaar, Henk‐Jan, additional, Mathijssen, Ron H. J., additional, Swen, Jesse J., additional, and Meulendijks, Didier, additional

Published
2022
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145. Dutch National Round Robin Trial on Plasma-Derived Circulating Cell-Free DNA Extraction Methods Routinely Used in Clinical Pathology for Molecular Tumor Profiling

Author

van der Leest, Paul, Ketelaar, Emma M., van Noesel, Carel J.M., van den Broek, Daan, van Boerdonk, Robert A.A., Deiman, Birgit, Rifaela, Naomi, van der Geize, Robert, Huijsmans, Cornelis J.J., Speel, Ernst Jan M., Geerlings, Maartje J., van Schaik, Ron H.N., Jansen, Maurice P.H.M., Dane-Vogelaar, Ria, Driehuis, Else, Leers, Mathie P.G., Sidorenkov, Grigory, Tamminga, Menno, van Kempen, Léon C., Schuuring, Ed, van der Leest, Paul, Ketelaar, Emma M., van Noesel, Carel J.M., van den Broek, Daan, van Boerdonk, Robert A.A., Deiman, Birgit, Rifaela, Naomi, van der Geize, Robert, Huijsmans, Cornelis J.J., Speel, Ernst Jan M., Geerlings, Maartje J., van Schaik, Ron H.N., Jansen, Maurice P.H.M., Dane-Vogelaar, Ria, Driehuis, Else, Leers, Mathie P.G., Sidorenkov, Grigory, Tamminga, Menno, van Kempen, Léon C., and Schuuring, Ed

Abstract

BACKGROUND: Efficient recovery of circulating tumor DNA (ctDNA) depends on the quantity and quality of circulating cell-free DNA (ccfDNA). Here, we evaluated whether various ccfDNA extraction methods routinely applied in Dutch laboratories affect ccfDNA yield, ccfDNA integrity, and mutant ctDNA detection, using identical lung cancer patient-derived plasma samples. METHODS: Aliquots of 4 high-volume diagnostic leukapheresis plasma samples and one artificial reference plasma sample with predetermined tumor-derived mutations were distributed among 14 Dutch laboratories. Extractions of ccfDNA were performed according to local routine standard operating procedures and were analyzed at a central reference laboratory for mutant detection and assessment of ccfDNA quantity and integrity. RESULTS: Mutant molecule levels in extracted ccfDNA samples varied considerably between laboratories, but there was no indication of consistent above or below average performance. Compared to silica membrane-based methods, samples extracted with magnetic beads-based kits revealed an overall lower total ccfDNA yield (-29%; P < 0.0001) and recovered fewer mutant molecules (-41%; P < 0.01). The variant allelic frequency and sample integrity were similar. In samples with a higher-than-average total ccfDNA yield, an augmented recovery of mutant molecules was observed. CONCLUSIONS: In the Netherlands, we encountered diversity in preanalytical workflows with potential consequences on mutant ctDNA detection in clinical practice. Silica membrane-based methodologies resulted in the highest total ccfDNA yield and are therefore preferred to detect low copy numbers of relevant mutations. Harmonization of the extraction workflow for accurate quantification and sensitive detection is required to prevent introduction of technical divergence in the preanalytical phase and reduce interlaboratory discrepancies.

Published
2022

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

Author

Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP – Centre for Clinical Therapeutics, Brouwer, Jurriaan M.J.L., Nijenhuis, Marga, Soree, Bianca, Guchelaar, Henk Jan, Swen, Jesse J., van Schaik, Ron H.N., Weide, Jan van der, Rongen, Gerard A.P.J.M., Buunk, Anne Marie, de Boer-Veger, Nienke J., Houwink, Elisa J.F., van Westrhenen, Roos, Wilffert, Bob, Deneer, Vera H.M., Mulder, Hans, Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP – Centre for Clinical Therapeutics, Brouwer, Jurriaan M.J.L., Nijenhuis, Marga, Soree, Bianca, Guchelaar, Henk Jan, Swen, Jesse J., van Schaik, Ron H.N., Weide, Jan van der, Rongen, Gerard A.P.J.M., Buunk, Anne Marie, de Boer-Veger, Nienke J., Houwink, Elisa J.F., van Westrhenen, Roos, Wilffert, Bob, Deneer, Vera H.M., and Mulder, Hans

Published
2022

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

Author

Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP – Centre for Clinical Therapeutics, Matic, Maja, Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J., Buunk, Anne Marie, Houwink, Elisa J.F., Mulder, Hans, Rongen, Gerard A.P.J.M., Weide, Jan van der, Wilffert, Bob, Swen, Jesse J., Guchelaar, Henk Jan, Deneer, Vera H.M., van Schaik, Ron H.N., Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP – Centre for Clinical Therapeutics, Matic, Maja, Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J., Buunk, Anne Marie, Houwink, Elisa J.F., Mulder, Hans, Rongen, Gerard A.P.J.M., Weide, Jan van der, Wilffert, Bob, Swen, Jesse J., Guchelaar, Henk Jan, Deneer, Vera H.M., and van Schaik, Ron H.N.

Published
2022

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

Author

Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP – Centre for Clinical Therapeutics, Matic, Maja, Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J., Buunk, Anne Marie, Houwink, Elisa J.F., Mulder, Hans, Rongen, Gerard A.P.J.M., Weide, Jan van der, Wilffert, Bob, Swen, Jesse J., Guchelaar, Henk Jan, Deneer, Vera H.M., van Schaik, Ron H.N., Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP – Centre for Clinical Therapeutics, Matic, Maja, Nijenhuis, Marga, Soree, Bianca, de Boer-Veger, Nienke J., Buunk, Anne Marie, Houwink, Elisa J.F., Mulder, Hans, Rongen, Gerard A.P.J.M., Weide, Jan van der, Wilffert, Bob, Swen, Jesse J., Guchelaar, Henk Jan, Deneer, Vera H.M., and van Schaik, Ron H.N.

Published
2022

149. The Impact of Pharmacogenetics on Pharmacokinetics and Pharmacodynamics in Neonates and Infants:A Systematic Review

Author

Yalçın, Nadir, Flint, Robert, van Schaik, Ron, Simons, Sinno, Allegaert, Karel, Yalçın, Nadir, Flint, Robert, van Schaik, Ron, Simons, Sinno, and Allegaert, Karel

Abstract

In neonates, pharmacogenetics has an additional layer of complexity. This is because in addition to genetic variability in genes that code for proteins relevant to clinical pharmacology, there are rapidly maturational changes in these proteins. Consequently, pharmacotherapy in neonates has unique challenges. To provide a contemporary overview on pharmacogenetics in neonates, we conducted a systematic review to identify, describe and quantify the impact of pharmacogenetics on pharmacokinetics and-dynamics in neonates and infants (PROSPERO, CRD42022302029). The search was performed in Medline, Embase, Web of Science and Cochrane, and was extended by a PubMed search on the ‘top 100 Medicines’ (medicine + newborn/infant + pharmacogen*) prescribed to neonates. Following study selection (including data in infants, PGx related) and quality assessment (Newcastle–Ottawa scale, Joanna Briggs Institute tool), 55/789 records were retained. Retained records relate to metabolizing enzymes involved in phase I [cytochrome P450 (CYP1A2, CYP2A6, CYP2B6, CYP2C8/C9/C18, CYP2C19, CYP2D6, CYP3A5, CYP2E1)], phase II [glutathione-S-transferases, N-acetyl transferases, UDP-glucuronosyl-transferase], transporters [ATP-binding cassette transporters, organic cation transporters], or receptor/post-receptor mechanisms [opioid related receptor and post-receptor mechanisms, tumor necrosis factor, mitogen-activated protein kinase 8, vitamin binding protein diplotypes, corticotrophin-releasing hormone receptor-1, nuclear receptor subfamily-1, vitamin K epoxide reductase complex-1, and angiotensin converting enzyme variants]. Based on the available overview, we conclude that the majority of reported pharmacogenetic studies explore and extrapolate observations already described in older populations. Researchers commonly try to quantify the impact of these polymorphisms in small datasets of neonates or infants. In a next step, pharmacogenetic studies in neonatal life should go beyond confirmation of

Published
2022

150. A randomized crossover study comparing different tacrolimus formulations to reduce intrapatient variability in tacrolimus exposure in kidney transplant recipients

Author

Bunthof, Kim L.W., Al-Hassany, Linda, Nakshbandi, Gizal, Hesselink, Dennis A., van Schaik, Ron H.N., ten Dam, Marc A.G.J., Baas, Marije C., Hilbrands, Luuk B., van Gelder, Teun, Bunthof, Kim L.W., Al-Hassany, Linda, Nakshbandi, Gizal, Hesselink, Dennis A., van Schaik, Ron H.N., ten Dam, Marc A.G.J., Baas, Marije C., Hilbrands, Luuk B., and van Gelder, Teun

Abstract

A high intrapatient variability (IPV) in tacrolimus exposure is a risk factor for poor long-term outcomes after kidney transplantation. The main objective of this trial was to investigate whether tacrolimus IPV decreases after switching patients from immediate-release (IR)-tacrolimus to either extended-release (ER)-tacrolimus or LifeCyclePharma (LCP)-tacrolimus. In this randomized, prospective, open-label, cross-over trial, adult kidney transplant recipients on a stable immunosuppressive regimen, including IR-tacrolimus, were randomized for conversion to ER-tacrolimus or LCP-tacrolimus, and for the order in which IR-tacrolimus and the once-daily formulations were taken. Patients were followed 6 months for each formulation, with monthly tacrolimus predose concentration assessments to calculate the IPV. The IPV was defined as the coefficient of variation (%) of dose corrected predose concentrations. Ninety-two patients were included for analysis of the primary outcome. No significant differences between the IPV of IR-tacrolimus (16.6%) and the combined once-daily formulations (18.3%) were observed (% difference +1.7%, 95% confidence interval [CI] −1.1% to ‒4.5%, p = 0.24). The IPV of LCP-tacrolimus (20.1%) was not significantly different from the IPV of ER-tacrolimus (16.5%, % difference +3.6%, 95% CI −0.1% to 7.3%, p = 0.06). In conclusion, the IPV did not decrease after switching from IR-tacrolimus to either ER-tacrolimus or LCP-tacrolimus. These results provide no arguments to switch kidney transplant recipients from twice-daily (IR) tacrolimus formulations to once-daily (modified-release) tacrolimus formulations when the aim is to lower the IPV.

Published
2022

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