Cassiman J-J
Centrum Menselijke Erfelijkheid, KULeuven, Belgium.
Bull Mem Acad R Med Belg. 2010;165(10-12):475-82.
The possibilities for testing and screening for genes involved in inherited diseases or susceptibility to diseases have increased spectacularly. Combined with a revolution in the availability of sophisticated new technologies for testing, the question arises how will we be able to continue to provide quality services to our customers ? Who will provide these ? Will it be the centres, as we know them today, or will DTC take gradually over this service ? Will the quality criteria, as established today before tests are made available, still be applicable and how will these new services be able to contribute to an increasing and coordinated collection of global information on genetic diversity and on the pathogenic changes in the human genome? As stated in the Bioethics Convention of the European Council and explicited in the recent recommendations from the House of Lords of the UK on Genomic Medicine, we will need a major effort of the European Commission/of our governments, to implement a series of measures which will allow the correct and quality assured introduction into practice of the genetic knowledge that is being generated. Only then will all individuals and the scientific community be able to benefit from our services.
检测和筛查与遗传性疾病或疾病易感性相关基因的可能性已大幅增加。随着用于检测的先进新技术在可用性方面的一场革命，问题随之而来：我们如何能够继续为客户提供高质量的服务？谁将提供这些服务？是像我们如今所知的那些中心，还是直接面向消费者（DTC）检测会逐渐接管这项服务？在检测服务推出之前就已确立的质量标准是否仍将适用，以及这些新服务将如何为全球遗传多样性和人类基因组致病变化信息的不断增加且协调一致的收集做出贡献？正如欧洲理事会《生物伦理公约》所述，并在英国上议院近期关于基因组医学的建议中得到明确，我们需要欧盟委员会/我们各国政府做出重大努力，以实施一系列措施，从而使正在产生的基因知识能够正确且质量有保证地应用于实践。只有这样，所有个人和科学界才能从我们的服务中受益。
