From the *Endocrinology, Diabetes, Bone and Mineral Disorders, Henry Ford Health System; and †Department of Public Health Sciences, Henry Ford Hospital, Detroit, MI; ‡EpiSource, Newton, MA; and §Heart and Vascular Institute and Center for Health Services and Policy Research, Henry Ford Health System, Detroit, MI.
J Investig Med. 2014 Jan;62(1):26-32. doi: 10.2310/JIM.0000000000000022.
Recruitment of large, diverse populations into genetic studies remains challenging. Potential strategies to overcome limitations include leveraging electronic health data and minimizing patient burden. We sought to describe the overall participation rate and identify characteristics associated with participation in a genetic substudy of patients with type 2 diabetes mellitus, in which patients were identified via electronic hospital data and asked to participate by providing DNA samples by mail.
During a phone interview, participants (n = 455) were asked to take part in a genetic substudy. Subjects verbally consenting were mailed saliva collection kits and written consent forms. We examined demographic and clinical variables associated with verbal consent and DNA kit return using logistic regression.
Overall, 90% (n = 410) verbally consented to the genetic substudy during interviews. However, of those consenting, only 70% returned the DNA kit (n = 287). Among those consenting, after covariate adjustment, male sex (odds ratio [OR], 1.70; 95% confidence interval [CI], 1.09-2.65), African American race (OR, 0.61; 95% CI, 0.39-0.95), hemoglobin A1c (HbA1c) (OR, 0.87; 95% CI, 0.75-1.00), and physical activity (OR, 0.58; 95% CI, 0.37-0.91) were significantly associated with DNA kit return.
To our knowledge, we are the first to demonstrate an inverse association between HbA1c and participation in genetic research, potentially indicating a compliance-related trait needing further exploration. The DNA kit return rate being notably lower than the verbal consent rate suggests that the greater convenience of a telephone/mail-in process did not drastically enhance full participation. Direct comparison to in-person donation may be warranted.
招募大量、多样化的人群参与遗传研究仍然具有挑战性。克服这些限制的潜在策略包括利用电子健康数据和最小化患者负担。我们旨在描述该研究的总体参与率，并确定与 2 型糖尿病患者遗传子研究参与相关的特征，该研究通过电子病历数据识别患者，并通过邮寄方式提供 DNA 样本邀请患者参与。
在电话访谈中，参与者（n=455）被邀请参加遗传子研究。口头同意的受试者会收到唾液采集套件和书面同意书。我们使用逻辑回归检验与口头同意和 DNA 试剂盒返还相关的人口统计学和临床变量。
总体而言，90%（n=410）的参与者在访谈中口头同意参加遗传子研究。然而，在同意的人中，只有 70%（n=287）返还了 DNA 试剂盒。在同意的人中，经过协变量调整后，男性（比值比[OR]，1.70；95%置信区间[CI]，1.09-2.65）、非裔美国人（OR，0.61；95% CI，0.39-0.95）、糖化血红蛋白（HbA1c）（OR，0.87；95% CI，0.75-1.00）和体力活动（OR，0.58；95% CI，0.37-0.91）与 DNA 试剂盒返还显著相关。
据我们所知，我们是第一个证明 HbA1c 与参与遗传研究呈负相关的研究，这可能表明存在与依从性相关的特征，需要进一步探索。DNA 试剂盒返还率明显低于口头同意率，这表明电话/邮件参与过程的便利性并没有显著提高完全参与率。可能需要与面对面捐赠进行直接比较。
