Chung Wendy K
Division of Molecular Genetics, Columbia University, New York, New York 10032, USA.
Gend Med. 2007 Sep;4(3):248-65. doi: 10.1016/s1550-8579(07)80044-1.
We stand on the verge of integrating individual genetic and genomic information into health care provision and maintenance to improve health, increase efficiency, and decrease costs. We are beginning to integrate information on inherited susceptibility, gene expression, and predicted pharmacogenomic response to refine our medical management.
This article reviews the current utility of genetics and genomics in a wide array of clinical circumstances, considers the future applications, and defines some of the obstacles and potential solutions to clinical integration of genomic medicine.
Using the search terms genetics, genomics, pharmacogenomics, newborn screening, long QT syndrome, BRCA1/BRCA2, maturity onset diabetes of youth, diabetes, hemochromatosis, coronary artery disease, copy number changes, genetic discrimination, and genetic education, the PubMed database was searched from January 2000 to March 2007 to identify pertinent articles. Search results were restricted to English-language and human studies.
Several areas of medicine have begun to incorporate genetics into clinical practice, including newborn screening and breast cancer risk stratification and treatment. Molecular genetic tests are, and will increasingly become, available for inherited arrhythmias, diabetes, cancer, coronary artery disease, and pharmacogenomics. However, there are many barriers to implementation, including the cost of testing, the genetic literacy of patients and health care providers, and concerns about genetic discrimination.
Genetics and genomics will be increasingly utilized in every field of medicine; however, health care providers and patients must have realistic expectations about its predictive power and current limitations.
我们正处于将个体遗传和基因组信息整合到医疗保健的提供与维护之中的边缘，以改善健康状况、提高效率并降低成本。我们开始整合关于遗传易感性、基因表达以及预测的药物基因组反应的信息，以优化我们的医疗管理。
本文回顾了遗传学和基因组学在一系列临床情况下的当前效用，考虑了未来的应用，并界定了基因组医学临床整合的一些障碍和潜在解决方案。
使用搜索词遗传学、基因组学、药物基因组学、新生儿筛查、长QT综合征、BRCA1/BRCA2、青年发病的成年型糖尿病、糖尿病、血色素沉着症、冠状动脉疾病、拷贝数变化、基因歧视和遗传教育，检索了2000年1月至2007年3月的PubMed数据库，以识别相关文章。搜索结果仅限于英文和人类研究。
医学的几个领域已开始将遗传学纳入临床实践，包括新生儿筛查以及乳腺癌风险分层和治疗。分子遗传学检测现在以及将来会越来越多地用于遗传性心律失常、糖尿病、癌症、冠状动脉疾病和药物基因组学。然而，实施存在许多障碍，包括检测成本、患者和医疗保健提供者的遗传知识水平以及对基因歧视的担忧。
遗传学和基因组学将在医学的各个领域得到越来越多的应用；然而，医疗保健提供者和患者必须对其预测能力和当前局限性有现实的期望。
