Department of Bioethics and Humanities, A204 Health Sciences Building, Box 357120, University of Washington, Seattle, WA 98195, USA.
Epidemiol Rev. 2011;33(1):148-64. doi: 10.1093/epirev/mxr008. Epub 2011 Jun 27.
Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to assist reproductive decision making, and family history assessment to identify individuals who would benefit from additional prevention measures. Although the traditional goal of screening is to identify early disease or risk in order to implement preventive therapy, genetic screening has always included an atypical element-information relevant to reproductive decisions. New technologies offer increasingly comprehensive identification of genetic conditions and susceptibilities. Tests based on these technologies are generating a different approach to screening that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention. Use of these tests in population screening will increase the challenges already encountered in genetic screening programs, including false-positive and ambiguous test results, overdiagnosis, and incidental findings. Whether this approach is desirable requires further empiric research, but it also requires careful deliberation on the part of all concerned, including genomic researchers, clinicians, public health officials, health care payers, and especially those who will be the recipients of this novel screening approach.
目前的遗传筛查方法包括新生儿筛查，以确定哪些婴儿需要早期治疗；生殖遗传筛查，以帮助生殖决策；家族史评估，以确定哪些人需要采取额外的预防措施。虽然筛查的传统目标是识别早期疾病或风险，以便实施预防治疗，但遗传筛查一直包括一个非典型的元素——与生殖决策相关的信息。新技术提供了越来越全面的遗传疾病和易感性识别。基于这些技术的测试正在产生一种不同的筛查方法，旨在为个人提供有关其所有遗传特征和易感性的信息，这些信息可用于快速诊断、计划生育以及加速研究，以及传统的改善预防的筛查目标。在人群筛查中使用这些测试将增加遗传筛查计划中已经遇到的挑战，包括假阳性和模棱两可的测试结果、过度诊断和偶然发现。这种方法是否可取需要进一步的实证研究，但也需要所有相关方，包括基因组研究人员、临床医生、公共卫生官员、医疗保健支付者，特别是那些将成为这种新的筛查方法接受者的人，进行仔细考虑。
