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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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一个基因组咨询模型以人口为基础的测序:一个前后干预研究研究.

Selina Casalino1, Chloe Mighton2, Marc Clausen3

  • 1Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada.

Genetics in medicine : official journal of the American College of Medical Genetics
|September 20, 2024
PubMed
概括

一个新的基因组咨询模型 (GCM) 有效地增加了基因组测序 (GS) 患者的知识,并减少了决策冲突. 这种可扩展的方法支持在一般人群中学习遗传发现的知情决策.

关键词:
数字工具 数字工具.基因组测序是指基因组的测序.基因组咨询 基因组咨询人口查人口查.偏好 偏好 偏好 偏好

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科学领域:

  • 基因组医学是基因组医学.
  • 基因咨询 基因咨询
  • 公共卫生基因组学

背景情况:

  • 基因组测序 (GS) 为向健康个体返回结果提供了新的途径.
  • 可扩展的遗传咨询策略对于满足对GS结果日益增长的需求至关重要.
  • 了解人们对接受GS研究结果的偏好对于有效实施至关重要.

研究的目的:

  • 评估新型基因组咨询模型 (GCM) 对接受GS的个体的有效性.
  • 探索一般人群对于GS发现的回报的偏好.
  • 评估GCM干预后知识和决策冲突的变化.

主要方法:

  • 一组466名参与者完成了GS和GCM,其中包括数字平台和小组网络研讨会.
  • 在 (T0) 之前和 (T1) 之后进行的调查中,GCM评估了知识,决策冲突和结果偏好.
  • 配对样本T和Wilcoxon测试评估了变化,而回归模型确定了影响偏好的因素.

主要成果:

  • 对于GS的限制和好处,平均知识分数显著增加 (P < .0001).
  • 干预后决定性冲突 (DC) 显著下降 (P < .0001).
  • 想要了解所有GS发现的参与者比例从78%增加到86% (P < .0001).

结论:

  • 在接受GS的基于人口的队列中,GCM在增加知识和减少决策冲突方面表现出有效性.
  • 这些发现凸显了GCM作为一般人口遗传咨询的可扩展策略的潜力.
  • 老年,对遗传学的态度和基线DC影响了结果偏好的变化.