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基因組醫學(Genomic Medicine):演化中的科學,演化中的醫學倫理學

(2012-09-21 16:55:37) 下一個

Genomic medicine is rapidly evolving and changing the ways in which we think about the ethical, legal and economic regulation of this powerful biotechnology.

Public perceptions of genetic testing are complex and ambivalent. They have been shaped by some of the more unsavory uses to which genetics has been put in the past. It is difficult to separate our thoughts about current genetic screening for medical care from practices such as the eugenics movement, racial profiling based upon faulty understandings of genetics and compulsory sterilization programs throughout Europe and north America.

Past controversies about the appropriate use of genetic testing have led to many of the ethical and regulatory safeguards that surround genetic testing today. Genetic testing created a backlash due to it being used against people, rather than for them. Genetic testing came to be seen as fundamentally different from other forms of testing, one in need of more rigorous and explicit policies regarding informed consent and voluntariness.

This genetic exceptionalism continues today; however, it is taking new forms. We still tend to treat genetic testing as if it is ethically and legally distinct from other sorts of testing. However, technological advances, particularly those that allow testing to be done quicker, less expensively and with much a higher resolution, are pushing the envelope on existing moral norms and legal regulations. Genetic testing is one of the first types of testing that is being offered directly to consumers. Today, one can send a sample of saliva to a direct-to-consumer genetic testing company and receive results about one's risk factors for a variety of medical conditions. Often, the information is difficult to interpret, probabilistic and based on algorithms that are proprietary and thus somewhat mysterious. Still, genetic testing joins a relatively small group of other diagnostic tests, such as home pregnancy tests, blood pressure testing and glucometers in its ready availability to the consumer without a physician intermediary.

The day may be coming, and quite soon, when whole-genome or -exome sequencing will be readily available. It is hard to know whether to think of this as a good or a bad thing, whether people who undergo such testing – whether they are patients, research subjects or consumers – will be helped or harmed by it.

(Author by Sarah E Soden; Emily G Farrow; Carol J Saunders; John D Lantos, University of Missouri, Children's Mercy Hospital, Kansas City, MO, USA)

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