Lamoril Jérôme, Bogard Marc
Département de génétique moléculaire, Hôpital Bichat, Hôpitaux Universitaires Paris Nord Val de Seine, Paris, France.
Laboratoire de biologie, Centre hospitalier d'Argenteuil, France.
Ann Biol Clin (Paris). 2014 Jan-Feb;72(1):25-48. doi: 10.1684/abc.2013.0930.
New sequencing techniques are revolutionizing medical practice as its applications are numerous and considerable. We are living a technological turning point in molecular medicine. Indeed, thanks to these new machines, this technological leap allowed us to analyse the human genome with an elarged or even a total view. Genome analysis has applications in all medical fields from now on. Gene analysis in parallel with personalized therapy help in prolonged survival or even cures in some cancers or other diseases. Genetics is progressively arriving in every field of clinical practice. A new way of thinking clinics is born. This publication describes in its main lines these new applications, their problems and their challenges for geneticists as much as for other practitioners in the medical fields.
新的测序技术正在彻底改变医学实践,因为其应用广泛且意义重大。我们正生活在分子医学的技术转折点。事实上,多亏了这些新机器,这一技术飞跃使我们能够从更全面甚至全景的视角分析人类基因组。从现在起,基因组分析在所有医学领域都有应用。与个性化治疗并行的基因分析有助于延长某些癌症或其他疾病患者的生存期,甚至实现治愈。遗传学正逐渐进入临床实践的各个领域。一种新的临床思维方式应运而生。本出版物主要介绍了这些新应用、它们存在的问题以及对遗传学家和医学领域其他从业者而言所面临的挑战。