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.

中文翻译：

---

基因筛查。

目前的遗传筛查方法包括新生儿筛查以识别可从早期治疗中受益的婴儿、生殖遗传筛查以协助生殖决策以及家族史评估以识别可从额外预防措施中受益的个体。虽然筛查的传统目标是识别早期疾病或风险，以便实施预防性治疗，但基因筛查始终包含一个非典型要素——与生殖决策相关的信息。新技术提供了对遗传状况和易感性的日益全面的识别。基于这些技术的测试正在产生一种不同的筛查方法，旨在告知个体所有的遗传特征和易感性，以实现快速诊断、计划生育和加快研究的目的，以及改善预防的传统筛查目标。在人群筛查中使用这些测试将增加基因筛查计划中已经遇到的挑战，包括假阳性和模糊的测试结果、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，但也需要所有相关人员仔细考虑，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颖筛查方法的接受者。