基因组时代的遗传咨询

B. Biesecker, K. Peters, R. Resta
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引用次数: 0

摘要

随着外显子组和基因组测序等新基因检测技术的不断应用,遗传咨询的性质和范围也在不断发展。这为确定遗传咨询师和遗传咨询在提供遗传服务中的作用创造了一系列新的挑战。遗传咨询师可能会从基因检测的看门人转变为复杂基因检测结果的解释者。虽然这可能需要学习新的生物医学信息,但基本咨询技能的应用将继续是提供服务的关键。虽然测试变得越来越复杂和复杂,但它仍然取决于家庭和患者试图以有意义的方式将遗传信息融入他们的生活。至少在过去的半个世纪里,这一点在某种程度上没有改变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Counseling in the Genomic Era
The nature and scope of genetic counseling is continuing to evolve in the face of the expanding application of new genetic testing technologies like exome and genome sequencing. This creates a new set of challenges for determining the role of genetic counselors and genetic counseling in the delivery of genetic services. Genetic counselors may shift from being gatekeepers to genetic testing to interpreters of complex genetic test results. While this may require learning new biomedical information, the application of basic counseling skills will continue to be critical to service delivery. While testing has become more sophisticated and complex, it still comes down to families and patients trying to integrate genetic information into their lives in meaningful ways. This has, on one level, not changed for at least the last half-century.
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