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首页> 外文期刊>Contemporary clinical trials >Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing
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Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

机译：基因组载体筛选在寻求先注遗传学检测的基因组载体筛选的设计

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Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1-2 year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health. (C) 2016 The Authors. Published by Elsevier Inc.
机译：基于人口的载体筛查仅限于学习或高影响力的遗传条件，其中益处可能超过相关的危害和成本。随着基因组测序的成本下降和可用性的增加，风险和益处的平衡可能会导致更大数量的遗传条件，包括医学上可操作的其他结果。我们设计了一个RCT，以评估考虑怀孕的女性和合作伙伴的基因组临床测序。所有结果均被置于医疗记录中，供医疗保健提供者使用。通过定量和定性措施，包括基线和结果披露调查，结果披露访谈，1-2年后续访谈和团队日记，我们正在获取关于该人群基因组载体筛查的临床和个人效用的数据。关键结果包括可报告载体的数量和其他调查结果以及通常护理与基因组载体筛查的比较成本，利用和心理社会影响。随着研究进展的进展，我们将比较基因组测序和常规护理的成本以及筛选，遗传或心理健康咨询服务的使用模式，门诊次数和医疗保健总费用。该项目包括对人类反应的新型调查，以及来自遗嘱的父母的答复，他们正在学习信息，这些父母可以影响未来怀孕和自己的健康。 （c）2016年作者。 elsevier公司发布

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