Bonneau D, Marlin S, Sanlaville D, Dupont J-M, Sobol H, Gonzales M, Le Merrer M, Malzac P, Razavi F, Manouvrier S, Odent S, Stoppa-Lyonnet D
Inserm U 694, Service de Génétique, CHU d'Angers, 4 rue Larrey, 49933 Angers cedex 9, France.
Pathol Biol (Paris). 2010 Oct;58(5):396-401. doi: 10.1016/j.patbio.2009.12.002. Epub 2010 Feb 8.
This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used.
（1）基因检测的用途；（2）向患有基因疾病患者的亲属提供的信息；（3）迟发性基因疾病的产前和植入前诊断以及全基因组检测在产前诊断中的应用；（4）直接面向消费者的基因检测；（5）基因组医学时代的人群筛查；（6）使用基因检测时的偶发发现。
