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英国遗传学和免疫遗传学实验室中的药物遗传学检测。

Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories.

作者信息

Higgs Jenny, Gambhir Nikki, Ramsden Simon C, Poulton Kay, Newman William G

机构信息

Department of Medical Genetics, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St. Mary's Hospital, Manchester, United Kingdom.

出版信息

Genet Test Mol Biomarkers. 2010 Feb;14(1):121-5. doi: 10.1089/gtmb.2009.0156.

Abstract

AIM

For certain drugs, pharmacogenetic tests can reduce adverse drug reactions and improve treatment efficacy. However, the adoption of pharmacogenetics into clinical practice has been relatively slow. One potential barrier is the capacity of laboratories to meet the demands of a clinical pharmacogenetic service. We aimed to establish the range, capacity to deliver, and demand for germline pharmacogenetic testing in the United Kingdom and Ireland, through an e-survey of 34 molecular genetics and 28 histocompatibility and immunogenetics (H&I) laboratories.

RESULTS

Thirty-five percent of molecular genetics laboratories and 54% of H&I laboratories responded to the survey. The majority of H&I laboratories (93%) offered pharmacogenetic testing, whereas only one molecular genetics laboratory provided a pharmacogenetic service. HLA-B*5701 was most commonly tested to identify those at risk of abacavir hypersensitivity among patients with HIV. A number of barriers to testing were identified, including lack of clinician knowledge and a lack of scientific evidence. All molecular genetics laboratories believed that national coordination of clinical pharmacogenetic services was required, whereas only 50% of H&I laboratories supported this view.

CONCLUSIONS

In the United Kingdom, pharmacogenetic testing is currently being predominantly provided through H&I laboratories for a limited number of indications. The number of laboratories offering pharmacogenetic tests is increasing and is likely to continue to increase over the coming years.

摘要

目的

对于某些药物,药物遗传学检测可减少药物不良反应并提高治疗效果。然而,药物遗传学在临床实践中的应用进展相对缓慢。一个潜在障碍是实验室满足临床药物遗传学服务需求的能力。我们旨在通过对34个分子遗传学实验室和28个组织相容性与免疫遗传学(H&I)实验室进行电子调查,确定英国和爱尔兰种系药物遗传学检测的范围、提供能力及需求。

结果

35%的分子遗传学实验室和54%的H&I实验室回复了调查。大多数H&I实验室(93%)提供药物遗传学检测,而只有一个分子遗传学实验室提供药物遗传学服务。HLA-B*5701检测最为常见,用于识别HIV患者中对阿巴卡韦过敏的风险人群。确定了一些检测障碍,包括临床医生知识缺乏和科学证据不足。所有分子遗传学实验室都认为需要对临床药物遗传学服务进行全国协调,而只有50%的H&I实验室支持这一观点。

结论

在英国,目前药物遗传学检测主要由H&I实验室针对有限的适应症提供。提供药物遗传学检测的实验室数量正在增加,并可能在未来几年继续增加。

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