Bains W
PA Consulting Group, Melbourn, Royston, Herts, UK.
J Chem Technol Biotechnol. 1993;56(2):123-34. doi: 10.1002/jctb.280560202.
DNA manipulation techniques have allowed the isolation and identification of many genes which cause disease in man. The same techniques are now being automated, and are on the threshold of application to more common and more complex genetic predispositions to diseases such as diabetes and schizophrenia. This article outlines the technology behind this development, and discusses some of the social, legal and ethical difficulties that widespread screening for genetic traits will raise. It is argued that these issues must be considered now, so that considered social responses to this technology are in place in the five years it is likely to take to develop. The techniques of DNA manipulation that have led to recombinant proteins and biopharmaceuticals have also led to an unprecedented increase in understanding of human genetics, and a corresponding increase in the practical side of human genetics--medical genetic diagnosis. As a result, medical genetics is moving from a specialty of statisticians and cytologists into the mainstream of medicine, and will soon be the concern of every hospital, and probably of every GP. This offers huge benefits to patients, but also threatens misunderstanding and even the potential of abuse if this sophisticated understanding of our fundamental natures is used without precision.
DNA操作技术已使人们能够分离和鉴定出许多导致人类疾病的基因。同样的技术现在正在自动化，并且即将应用于对糖尿病和精神分裂症等疾病更常见、更复杂的遗传易感性研究。本文概述了这一发展背后的技术，并讨论了广泛筛查遗传特征将会引发的一些社会、法律和伦理难题。有人认为，现在就必须考虑这些问题，以便在这项技术可能需要的五年发展时间内制定出经过深思熟虑的社会应对措施。导致重组蛋白和生物制药的DNA操作技术，也使人们对人类遗传学的理解有了前所未有的提高，同时人类遗传学的实际应用——医学遗传诊断也相应增加。因此，医学遗传学正从统计学家和细胞学家的专业领域走向医学主流，很快将成为每家医院甚至可能每位全科医生关注的领域。这给患者带来了巨大的好处，但如果对我们基本本性的这种深入理解被不精确地使用，也会引发误解甚至滥用的可能性。
