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Genetic counseling for breast cancer risk: How did we get here and where are we going?

机译:乳腺癌风险的遗传咨询:我们如何到达这里以及去哪里?

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摘要

Genetic counselors have been helping patients navigate hereditary cancer risk for decades. The rapidly changing landscape of genetic testing options means the field is again at a unique time in its history. Fears that arose when BRCA testing first became available are again being voiced in light of next-generation sequencing. The origins of genetic counseling, best practices, and recommendations that have come about since those early days need to be well understood before these new challenges can be met. The role of a proper risk assessment in preventing adverse outcomes is vital as options for testing change. In addition, an understanding of how various countries have incorporated genetic testing and genetic counseling into their healthcare systems can provide lessons in moving forward and capitalizing on the new technology that is again creating a genetics revolution.
机译:数十年来,遗传咨询师一直在帮助患者应对遗传性癌症的风险。基因检测选择的格局瞬息万变,这意味着该领域再次处于其历史上独特的时期。随着下一代测序技术的出现,人们再次表达了对BRCA测试首次产生的恐惧。自从早期以来就已经出现了遗传咨询,最佳实践和建议的起源,以便能够应对这些新挑战。适当的风险评估在预防不良后果方面的作用至关重要,它是测试变更的选择。此外,对各国如何将基因检测和基因咨询纳入其医疗保健系统的了解,可以为前进和利用新技术提供经验教训,而新技术再次引发了遗传学革命。

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