从1865年孟德尔发现遗传学的基本定律到如今基因组学在医学中的广泛应用，医学遗传学取得了诸多进展，遗传病的概念也有了新的扩展。1972年，世界卫生组织(World Health Organization, WHO)专家组开始使用“Genetic Disease”来定义遗传病，而国内早期的遗传学教材使用“劣性遗传”来指代遗传病，后引入“Genetic Disease”和“Inherited Disease”等术语作为遗传病的英文翻译。在早期，人们普遍认为遗传病的发生都是由祖辈遗传下来的。但近些年的研究发现，遗传病并不一定会遗传，部分疾病其实是由后代中新产生的突变所引起。这类遗传病的发生虽然和遗传因素有关，但并不是由祖辈遗传下来的，如果仍然使用“Inherited Disease”或“Hereditary Disease”来翻译是不够准确的。为进一步规范“遗传病”概念的翻译及使用，本文系统梳理了其在国内外的发展历程，探讨了不同英文翻译间的区别，以期为科学、准确地表述遗传病提供指导和建议，促进医学遗传学领域的规范交流与合作。

From Mendel’s discovery of the basic laws of genetics in 1865 to the widespread application of genomics in medicine today, medical genetics has made enormous progress, and the concept of genetic diseases has also been evolved. In 1972, the World Health Organization (WHO) expert group began to use “Genetic Disease” to define hereditary diseases, while early Chinese genetics textbooks used “inferior inheritance”, and later introduced terms such as “Genetic Disease” and “Inherited Disease”. In the early days, it was generally believed that genetic diseases were inherited from ancestors. However, research in recent years has found that genetic diseases are not necessarily inherited, and some diseases are actually caused by de novo mutations in the offspring. Although the occurrence of this type of genetic disease is related to genetic factors, it is not inherited from ancestors. If we still use “Inherited Disease” or “Hereditary Disease” to describe it, it is not accurate enough. In order to further standardize the translation and use of the concept of “Genetic Disease”, this article briefly reviews its development process in both English and Chinese literature, discusses the difference between different Chinese translations, and provides guidance and suggestions for scientifically and accurately describing genetic diseases in Chinese, with a view to promote efficient exchange and cooperation in the field of medical genetics.