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  1. Ng WL, Hussein N, Ng CJ, Qureshi N, Lee YK, Kwan Z, et al.
    PLoS One, 2024;19(1):e0296498.
    PMID: 38206925 DOI: 10.1371/journal.pone.0296498
    INTRODUCTION: Allopurinol, the first-line treatment for chronic gout, is a common causative drug for severe cutaneous adverse reactions (SCAR). HLA-B*58:01 allele was strongly associated with allopurinol-induced SCAR in Asian countries such as Taiwan, Japan, Thailand and Malaysia. HLA-B*58:01 screening before allopurinol initiation is conditionally recommended in the Southeast-Asian population, but the uptake of this screening is slow in primary care settings, including Malaysia. This study aimed to explore the views and experiences of primary care doctors and patients with gout on implementing HLA-B*58:01 testing in Malaysia as part of a more extensive study exploring the feasibility of implementing it routinely.

    METHODS: This qualitative study used in-depth interviews and focus group discussions to obtain information from patients with gout under follow-up in primary care and doctors who cared for them. Patients and doctors shared their gout management experiences and views on implementing HLA-B*58:01 screening in primary care. Data were coded and analysed using thematic analysis.

    RESULTS: 18 patients and 18 doctors from three different healthcare settings (university hospital, public health clinics, private general practitioner clinics) participated. The acceptability to HLA-B*58:01 screening was good among the doctors and patients. We discovered inadequate disclosure of severe side effects of allopurinol by doctors due to concerns about medication refusal by patients, which could potentially be improved by introducing HLA-B*58:01 testing. Barriers to implementation included out-of-pocket costs for patients, the cost-effectiveness of this implementation, lack of established alternative treatment pathway besides allopurinol, counselling burden and concern about genetic data security. Our participants preferred targeted screening for high-risk populations instead of universal screening.

    CONCLUSION: Implementing HLA-B*58:01 testing in primary care is potentially feasible if a cost-effective, targeted screening policy on high-risk groups can be developed. A clear treatment pathway for patients who test positive should be made available.

  2. Ng WL, Kee BP, Hussein N, Ng CJ, Kuan SW, Mohd Zaidan FZ, et al.
    J Community Genet, 2025 Feb;16(1):37-45.
    PMID: 39586937 DOI: 10.1007/s12687-024-00753-4
    HLA-B*58:01 allele is associated with allopurinol-induced severe cutaneous reaction (SCAR). Malaysia has a multiethnic population with limited data on the prevalence of HLA-B*58:01 among patients with gout treated in primary care settings. This cross-sectional study aimed to determine the prevalence of HLA-B*5801 in patients with gout from the Malay, Chinese and Indian ethnicities attending primary clinics in Malaysia.We collected blood samples from patients with gout attending three primary care clinics in Klang Valley, Malaysia, using convenience sampling. Genomic DNA samples were subjected to typing of HLA-B*5801 by a multiplex probe-based assay in a real-time PCR system, validated by PCR-resequencing approach.547 patients (194 Malay, 266 Chinese and 87 Indian) were recruited. The overall prevalence of HLA-B*58:01 was 16.8% (Chinese 21.8%, Indian 12.6% and Malay 11.9%). None of our 61 HLA-B*58:01 carriers who ever used allopurinol developed SCAR.The overall prevalence of HLA-B*58:01 allele in our patients with gout was high, particularly among the Chinese ethnicity (21.8%). None of our HLA-B*58:01 positive patients treated with allopurinol reported allopurinol-induced SCAR. A more accurate predictive model for allopurinol-induced SCAR is needed.
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