Greco Karen E, Mahon Suzanne M
National Institutes of Health, National Cancer Institute, Center for Cancer Research, Genetics Branch, Bethesda, USA.
Annu Rev Nurs Res. 2011;29:73-97. doi: 10.1891/0739-6686.29.73.
As the application of genomic information and technology crosses the horizon of health care into our everyday lives, expanding genomic knowledge continues to affect how health care services are defined and delivered. Genomic discoveries have led to enhanced clinical capabilities to predict susceptibility to common diseases and conditions such as cancer, diabetes, cardiovascular disease, and Alzheimer's disease. Hundreds of genetic tests are now available that can identify individuals who carry one or more gene mutations that increase their risk of developing cancer or other common diseases. Increased availability and direct-to-consumer marketing of genetic testing is moving genetic testing away from trained genetics health professionals and into the hands of primary care providers and consumers. Genetic tests available on the Internet are being directly marketed to individuals, who can order these tests and receive a report of their risk for numerous health conditions and diseases. Health care providers are expected to interpret these test results, evaluate their accuracy, address the psychosocial consequences of those distressed by receiving their results, and translate genomic information into effective care. However, as we move two steps forward, we are also moving one step backward because many health care providers are unprepared for this genomic revolution. A number of international education, practice, and policy efforts are underway to address the challenges health care providers face in providing competent genomic health care in the context of unprecedented access to information, technology, and global communication. Efforts to integrate standard of care guidelines into electronic medical records increases health care providers' access to information for individuals at risk fo or diagnosed with a genomic condition. Development of genomic competencie for health care providers has led to increased genomic content in academic pro grams. These and other efforts will keep the state of genomic health care stepping forward as we face the challenges of health care in the genomic era.
随着基因组信息与技术的应用跨越医疗保健领域，融入我们的日常生活，不断扩展的基因组知识持续影响着医疗保健服务的定义与提供方式。基因组学的发现提升了临床预测常见疾病易感性的能力，如癌症、糖尿病、心血管疾病和阿尔茨海默病等。如今有数百种基因检测可供使用，能够识别携带一种或多种增加患癌或其他常见疾病风险的基因突变的个体。基因检测的可得性增加以及直接面向消费者的营销，正使基因检测从专业的遗传学健康专家手中，转向初级保健提供者和消费者手中。互联网上提供的基因检测直接面向个人进行营销，个人可以订购这些检测并获得关于自身多种健康状况和疾病风险的报告。医疗保健提供者需要解读这些检测结果，评估其准确性，应对因收到检测结果而感到困扰的人的心理社会后果，并将基因组信息转化为有效的护理。然而，我们在前进两步的同时，也在后退一步，因为许多医疗保健提供者对这场基因组革命毫无准备。目前正在开展一些国际教育、实践和政策方面的努力，以应对医疗保健提供者在前所未有的信息、技术获取以及全球交流背景下，提供合格的基因组医疗保健所面临的挑战。将护理标准指南整合到电子病历中的努力，增加了医疗保健提供者获取有基因组疾病风险或已被诊断患有基因组疾病个体信息的机会。为医疗保健提供者培养基因组能力，使得学术项目中的基因组内容有所增加。在我们面对基因组时代的医疗保健挑战时，这些以及其他努力将推动基因组医疗保健不断向前发展。
