Medical University of Graz, Institute of Human Genetics, Graz, Austria.
Lancet Oncol. 2010 Sep;11(9):890-8. doi: 10.1016/S1470-2045(09)70359-6. Epub 2010 May 25.
Genetic counselling is offered to patients with various hereditary cancers. At-risk family members can be identified by predictive testing and included in specifically designed screening and prevention programmes. Since genetic testing has far-reaching ethical and medical outcomes, it is usually done according to well-defined guidelines developed by medical societies, entailing extensive interaction between family members and medical health providers. This established procedure is now changing after three new developments. First, data from genome-wide association studies have identified many new loci in the human genome, which could moderately change cancer risk. Second, although inclusion of low-risk cancer genes in patients' risk assessments represents an unresolved challenge, several companies already offer such tests in a direct-to-consumer format over the internet. These tests shift control of genetic testing from medical professionals to individuals. Third, development of high-speed sequencing technologies multiplies available genomic data and enables rapid sequencing of entire human genomes at low costs. This innovation will pave the way for personalised genetics and new options for predictive testing. Here, we use the example of genetic counselling in colon cancer to describe how these developments will change genetic testing in families at risk of cancer and in the general population.
遗传咨询面向患有各种遗传性癌症的患者提供服务。通过预测性检测，可以识别出高危家族成员，并将其纳入专门设计的筛查和预防计划中。由于基因检测具有深远的伦理和医学影响，因此通常是根据医学协会制定的明确指南进行的，需要家庭成员和医疗保健提供者之间进行广泛的互动。在三个新进展之后，这种既定程序正在发生变化。首先，全基因组关联研究的数据已经在人类基因组中确定了许多新的基因座，这些基因座可能会适度改变癌症风险。其次，尽管将低风险癌症基因纳入患者的风险评估中仍然是一个未解决的挑战，但已经有几家公司通过互联网以直接面向消费者的形式提供此类测试。这些测试将基因检测的控制权从医疗专业人员转移到了个人手中。第三，高通量测序技术的发展增加了可用的基因组数据，并能够以低成本快速对整个人类基因组进行测序。这项创新将为个性化遗传学和预测性测试的新选择铺平道路。在这里，我们以结肠癌的遗传咨询为例，描述这些进展将如何改变癌症高危家族和一般人群中的基因检测。
