Scheuner Maren T, Sieverding Pauline, Shekelle Paul G
RAND Corporation, Santa Monica, California 90401, USA.
JAMA. 2008 Mar 19;299(11):1320-34. doi: 10.1001/jama.299.11.1320.
The greatest public health benefit of advances in understanding the human genome may be realized for common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation.
To synthesize current information on genetic health services for common adult-onset conditions by examining studies that have addressed the outcomes, consumer information needs, delivery, and challenges in integrating these services.
MEDLINE articles published between January 2000 and February 2008.
Original research articles and systematic reviews dealing with common chronic adult-onset conditions were reviewed. A total of 3371 citations were reviewed, 170 articles retrieved, and 68 articles included in the analysis.
Data were independently extracted by one reviewer and checked by another with disagreement resolved by consensus. Variables assessed included study design and 4 key areas: outcomes of genomic medicine, consumer information needs, delivery of genomic medicine, and challenges and barriers to integration of genomic medicine.
Sixty-eight articles contributed data to the synthesis: 5 systematic reviews, 8 experimental studies, 35 surveys, 7 pre/post studies, 3 observational studies, and 10 qualitative reports. Three systematic reviews, 4 experimental studies, and 9 additional studies reported on outcomes of genetic services. Generally there were modest positive effects on psychological outcomes such as worry and anxiety, behavioral outcomes have shown mixed results, and clinical outcomes were less well studied. One systematic review, 1 randomized controlled trial, and 14 other studies assessed consumer information needs and found in general that genetics knowledge was reported to be low but that attitudes were generally positive. Three randomized controlled trials and 13 other studies assessed how genomic medicine is delivered and newer models of delivery. One systematic review and 19 other studies assessed barriers; the most consistent finding was the self-assessed inadequacy of the primary care workforce to deliver genetic services. Additional identified barriers included lack of oversight of genetic testing and concerns about privacy and discrimination.
Many gaps in knowledge about organization, clinician, and patient needs must be filled to translate basic and clinical science advances in genomics of common chronic diseases into practice.
在理解人类基因组方面取得的进展，其最大的公共卫生效益可能体现在心血管疾病、糖尿病和癌症等常见慢性病上。将这些知识整合到临床实践中的尝试仍处于早期阶段，因此，围绕这种转化的现状存在许多问题。
通过审查涉及这些服务的结果、消费者信息需求、提供方式以及整合过程中面临的挑战的研究，综合当前关于常见成人发病疾病的基因健康服务的信息。
2000年1月至2008年2月发表在MEDLINE上的文章。
对涉及常见成人慢性发病疾病的原创研究文章和系统评价进行了审查。共审查了3371条引文，检索到170篇文章，其中68篇纳入分析。
由一名审阅者独立提取数据，另一名审阅者进行核对，如有分歧则通过协商解决。评估的变量包括研究设计以及4个关键领域：基因组医学的结果、消费者信息需求、基因组医学的提供方式以及基因组医学整合的挑战和障碍。
68篇文章为综合分析提供了数据：5篇系统评价、8篇实验研究、35篇调查、7篇前后对照研究、3篇观察性研究和10篇定性报告。3篇系统评价、4篇实验研究和9项其他研究报告了基因服务的结果。总体而言，对担忧和焦虑等心理结果有适度的积极影响，行为结果呈现出好坏参半的结果，而临床结果的研究较少。1篇系统评价、1项随机对照试验和14项其他研究评估了消费者的信息需求，总体发现报告的遗传学知识水平较低，但态度普遍积极。3项随机对照试验和13项其他研究评估了基因组医学的提供方式以及新的提供模式。1篇系统评价和19项其他研究评估了障碍；最一致的发现是初级保健工作人员自我评估缺乏提供基因服务的能力。其他已确定的障碍包括对基因检测缺乏监督以及对隐私和歧视的担忧。
必须填补有关组织、临床医生和患者需求方面的许多知识空白，才能将常见慢性病基因组学的基础和临床科学进展转化为实际应用。
