Wu Ann Chen, Davis Robert, Tantisira Kelan, Dutta-Linn M Maya, Hemmes Mia, Weiss Scott T
Center for Child Health Care Studies, Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA ; Department of Pediatrics, Children's Hospital, Boston, MA ; Kaiser Permanente South East, Atlanta, GA.
J Pharmacogenomics Pharmacoproteomics. 2011 Apr 4;2(103). doi: 10.4172/2153-0645.1000103.
Pharmacogenetic testing may change clinical medicine by allowing clinicians to tailor medications based on a patient's genetic makeup, however, these tests must first be validated in large, real-life populations of subjects that include children. A dearth of knowledge exists for whether pediatric populations are as willing as adult populations to provide samples for such studies.
(1) To assess whether pediatric and adult patients with persistent asthma are willing to provide specimens for DNA extraction and genetic studies. (2) To assess whether patients' willingness to provide blood as compared to buccal smear specimens differ.
Of 644 patients ages 4-38 years who had three or more prescription fills for inhaled corticosteroids in one year, 60% (385) were randomized to the blood specimen group and 40% (259) were randomized to the buccal smear group in order to study acceptance of different biospecimen collection methods. Research assistants contacted subjects to obtain consent, perform a phone survey, and request a specimen.
There were no baseline differences between subjects randomized to the blood specimen group versus buccal smear group with respect to age, gender, or number of dispensings of inhaled corticosteroids. Of 259 subjects in the buccal smear group, 30% (78) provided samples, and of 385 subjects in the blood specimen group, 16% (60) provided samples. Subjects randomized to the buccal smear group were more likely to provide specimens for genetic study compared to subjects randomized to the blood specimen group (RR 1.21; 95% CI 1.10 - 1.32), even after adjusting for age. Pediatric subjects were more likely to provide specimens for genetic study than adult subjects with 23% (113) of pediatric subjects providing samples and 15% (25) of adult subjects providing samples (p=0.03).
Children with asthma are as likely to participate in genetic studies as adults. Both children and adult subjects are more likely to provide buccal smear specimens rather than blood specimens for genetic study.
药物遗传学检测可能会改变临床医学，使临床医生能够根据患者的基因构成来定制药物，然而，这些检测必须首先在包括儿童在内的大规模真实人群中得到验证。目前尚缺乏关于儿科人群是否与成年人群一样愿意为这类研究提供样本的相关知识。
（1）评估患有持续性哮喘的儿科和成年患者是否愿意提供用于DNA提取和基因研究的样本。（2）评估患者提供血液样本与颊拭子样本的意愿是否存在差异。
在644名年龄在4至38岁之间、一年内有三次或更多次吸入性糖皮质激素处方配药的患者中，60%（385名）被随机分配到血液样本组，40%（259名）被随机分配到颊拭子组，以研究对不同生物样本采集方法的接受程度。研究助理联系受试者以获得同意、进行电话调查并索要样本。
在年龄、性别或吸入性糖皮质激素的配药次数方面，随机分配到血液样本组与颊拭子组的受试者之间在基线时没有差异。在颊拭子组的259名受试者中，30%（78名）提供了样本，在血液样本组的385名受试者中，16%（60名）提供了样本。即使在对年龄进行调整后，随机分配到颊拭子组的受试者比随机分配到血液样本组的受试者更有可能为基因研究提供样本（相对危险度1.21；95%置信区间1.10 - 1.32）。儿科受试者比成年受试者更有可能为基因研究提供样本，23%（113名）的儿科受试者提供了样本，15%（25名）的成年受试者提供了样本（p = 0.03）。
哮喘儿童参与基因研究的可能性与成年人相同。儿童和成年受试者都更有可能为基因研究提供颊拭子样本而非血液样本。
