遗传咨询中应用二代测序技术的伦理边界

Ethical Boundary for the Application of the Next-generation Sequencing in Genetic Counseling

二代测序技术已广泛用于遗传咨询,但新技术应用却存在两大问题——缺少统一的技术规范和明确的伦理界限,致使行业发展受限和民众权益受损。前一问题的解决依赖技术进步,而后者则需要划定伦理边界。遗传咨询应遵循WHO的建议和准则,其中不伤害、行善、自主和公正的医学伦理四条基本原则构成遗传咨询伦理的原则边界,而实践中知情同意则是二代测序伦理原则边界的刚性红线。国内履行知情同意面临诸多问题,建议首先从技术角度形成应用二代测序时知情同意的五类15个告知要点。

The next-generation sequencing technology has been widely used in genetic counseling,but there are two major problems in the application of new technology,namely,the lack of unified technical specifications and clear ethical boundary,which would limit industry development and impaired public rights and interests.The solution of the former problem depends on technological progress,while the latter requires the delineation of ethical boundary.Genetic counseling should follow WHO’s recommendations and guidelines.Four basic principles of medical ethics,namely,no harm,good deeds,autonomy and impartiality,constitute the principle boundary of genetic counseling ethics.Informed consent in practice is the rigid red line of the ethical principle boundary of next-generation sequencing.There are many problems in the implementation of informed consent in China.Five types and 15 notification points of informed consent in the application of next-generation sequencing were proposed from the technical point of view in this article.