Jones M B
Am J Hum Genet. 1979 Nov;31(6):711-7.
Many genetic diseases shorten the lives of people who have them. Hence, it makes sense to speak of years of life lost due to cystic fibrosis or sickle-cell anemia or numerous other genetic disorders. In conventional practice, years of life lost is calculated for causes of death only, but a genetic disease is better understood as a risk-altering state or condition: it acts not at the time of death only but from birth onwards. Therefore, we must reformulate the concept of years of life lost before applying it to genetic conditions. This has already been done for congenital genetic diseases. This paper extends the reformulation to diseases with delayed onset. Huntington disease (HD) is used as an example.
许多遗传疾病会缩短患者的寿命。因此，因囊性纤维化、镰状细胞贫血或许多其他遗传疾病而导致的生命年损失是有意义的。在传统做法中，生命年损失仅针对死亡原因进行计算，但遗传疾病更应被理解为一种改变风险的状态或状况：它不仅在死亡时起作用，而是从出生起就开始起作用。因此，在将生命年损失的概念应用于遗传疾病之前，我们必须重新表述这一概念。对于先天性遗传疾病，这一工作已经完成。本文将这种重新表述扩展到发病延迟的疾病。以亨廷顿舞蹈症（HD）为例。
