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  1. Article ; Online: The PREPARE study: benefits of pharmacogenetic testing are unclear - Authors' reply.

    Swen, Jesse J / Manson, Lisanne E N / Böhringer, Stefan / Pirmohamed, Munir / Guchelaar, Henk-Jan

    Lancet (London, England)

    2023  Volume 401, Issue 10391, Page(s) 1851–1852

    MeSH term(s) Humans ; Pharmacogenomic Testing ; Genetic Testing ; Pharmacogenetics
    Language English
    Publishing date 2023-06-02
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0023-7507 ; 0140-6736
    ISSN (online) 1474-547X
    ISSN 0023-7507 ; 0140-6736
    DOI 10.1016/S0140-6736(23)00852-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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

    Manson, Lisanne E N / Swen, Jesse J / Guchelaar, Henk-Jan

    Frontiers in pharmacology

    2020  Volume 11, Page(s) 567048

    Abstract: Introduction: Certain HLA variants are associated with an increased risk of hypersensitivity reactions to specific drugs. Both the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG) have issued ...

    Abstract Introduction: Certain HLA variants are associated with an increased risk of hypersensitivity reactions to specific drugs. Both the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG) have issued actionable HLA gene - drug interaction guidelines but diagnostic test criteria remain largely unknown. We present an overview of the diagnostic test criteria of the actionable HLA - drug pairs.
    Methods: A systematic literature search was conducted in PubMed, Embase, Web of Science and Cochrane Library. Original case-control and cohort studies were selected and sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and number needed to genotype (NNG) were calculated for the actionable HLA-drug pairs.
    Results: In general, the HLA tests show high specificity and NPV for predicting hypersensitivity reactions. The sensitivity of HLA tests shows a wide range, from 0-33% for HLA-B*1502 testing to predict lamotrigine induced SJS/TEN up to 100% for HLA-B*5701 to predict immunologically confirmed abacavir hypersensitivity syndrome (ABC-HSR). PPV is low for all tests except for HLA-B*5701 and ABC-HSR which is approximately 50%. HLA-B*5701 to predict ABC-HSR shows the lowest NNG followed by HLA-B*5801 for allopurinol induced severe cutaneous adverse drug reactions and HLA-B*1502 for carbamazepine induced SJS/TEN.
    Discussion: This is the first overview of diagnostic test criteria for actionable HLA-drug pairs. Studies researching HLA genes and hypersensitivity are scarce for some of the HLA-drug pairs in some populations and patient numbers in studies are small. Therefore, more research is necessary to calculate the diagnostic test criteria more accurately.
    Language English
    Publishing date 2020-09-23
    Publishing country Switzerland
    Document type Systematic Review
    ZDB-ID 2587355-6
    ISSN 1663-9812
    ISSN 1663-9812
    DOI 10.3389/fphar.2020.567048
    Database MEDical Literature Analysis and Retrieval System OnLINE

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

    Manson, Lisanne E N / van den Hout, Wilbert B / Guchelaar, Henk-Jan

    Pharmaceuticals (Basel, Switzerland)

    2021  Volume 15, Issue 1

    Abstract: Human Leukocyte Antigen (HLA) variants can be a risk factor for developing potentially fatal drug hypersensitivity reactions. Our aim was to estimate the potential impact of genotyping for the HLA risk alleles incorporated in the Dutch Pharmacogenetics ... ...

    Abstract Human Leukocyte Antigen (HLA) variants can be a risk factor for developing potentially fatal drug hypersensitivity reactions. Our aim was to estimate the potential impact of genotyping for the HLA risk alleles incorporated in the Dutch Pharmacogenetics Working Group (DPWG) guidelines in The Netherlands. We estimated the number of hypersensitivity reactions and associated deaths that can be avoided annually by genotyping for these HLA risk alleles. Additionally, the cost-effectiveness was estimated. Nationwide implementation of genotyping HLA risk alleles before initiating drugs with an actionable drug-gene interaction can potentially save the life of seven allopurinol initiators and two flucloxacillin initiators each year in The Netherlands. Besides these deaths, 28 cases of abacavir hypersensitivity, 24 cases of allopurinol induced SCARs, 6 cases of carbamazepine induced DRESS and 22 cases of flucloxacillin induced DILI can be prevented. Genotyping
    Language English
    Publishing date 2021-12-21
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2193542-7
    ISSN 1424-8247
    ISSN 1424-8247
    DOI 10.3390/ph15010004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Genotyping for HLA risk alleles versus patch tests to diagnose anti-seizure medication induced cutaneous adverse drug reactions.

    Manson, Lisanne E N / Chan, Patricia C Y / Böhringer, Stefan / Guchelaar, Henk-Jan

    Frontiers in pharmacology

    2022  Volume 13, Page(s) 1061419

    Abstract: Aim: ...

    Abstract Aim:
    Language English
    Publishing date 2022-11-21
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2587355-6
    ISSN 1663-9812
    ISSN 1663-9812
    DOI 10.3389/fphar.2022.1061419
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Repurposing HLA genotype data of renal transplant patients to prevent severe drug hypersensitivity reactions.

    Manson, Lisanne E N / Delwig, Sander J / Drabbels, Jos J M / Touw, Daan J / De Vries, Aiko P J / Roelen, Dave L / Guchelaar, Henk-Jan

    Frontiers in genetics

    2023  Volume 14, Page(s) 1289015

    Abstract: Introduction: ...

    Abstract Introduction:
    Language English
    Publishing date 2023-10-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2023.1289015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs.

    Manson, Lisanne E N / 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 / Swen, Jesse J / Touw, Daan J / van Westrhenen, Roos / Deneer, Vera H M / Guchelaar, Henk-Jan

    European journal of human genetics : EJHG

    2024  

    Abstract: By developing evidence-based pharmacogenetics guidelines to optimize pharmacotherapy, the Dutch Pharmacogenetics Working Group (DPWG) aims to advance the implementation of pharmacogenetics (PGx). This guideline outlines the gene-drug interaction of ... ...

    Abstract By developing evidence-based pharmacogenetics guidelines to optimize pharmacotherapy, the Dutch Pharmacogenetics Working Group (DPWG) aims to advance the implementation of pharmacogenetics (PGx). This guideline outlines the gene-drug interaction of CYP2C9 and HLA-B with phenytoin, HLA-A and HLA-B with carbamazepine and HLA-B with oxcarbazepine and lamotrigine. A systematic review was performed and pharmacotherapeutic recommendations were developed. For CYP2C9 intermediate and poor metabolisers, the DPWG recommends lowering the daily dose of phenytoin and adjust based on effect and serum concentration after 7-10 days. For HLA-B*15:02 carriers, the risk of severe cutaneous adverse events associated with phenytoin, carbamazepine, oxcarbazepine, and lamotrigine is strongly increased. For carbamazepine, this risk is also increased in HLA-B*15:11 and HLA-A*31:01 carriers. For HLA-B*15:02, HLA-B*15:11 and HLA-A*31:01 positive patients, the DPWG recommends choosing an alternative anti-epileptic drug. If not possible, it is recommended to advise the patient to report any rash while using carbamazepine, lamotrigine, oxcarbazepine or phenytoin immediately. Carbamazepine should not be used in an HLA-B*15:02 positive patient. DPWG considers CYP2C9 genotyping before the start of phenytoin "essential" for toxicity prevention. For patients with an ancestry in which the abovementioned HLA-alleles are prevalent, the DPWG considers HLA-B*15:02 genotyping before the start of carbamazepine, phenytoin, oxcarbazepine, and lamotrigine "beneficial", as well as genotyping for HLA-B*15:11 and HLA-A*31:01 before initiating carbamazepine.
    Language English
    Publishing date 2024-04-03
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-024-01572-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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