Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, Maryland, USA.
Center for Research Strategy, National Cancer Institute, Bethesda, Maryland, USA.
Genet Med. 2019 May;21(5):1218-1223. doi: 10.1038/gim.2017.180. Epub 2017 Oct 26.
Implementation science offers methods to evaluate the translation of genomic medicine research into practice. The extent to which the National Institutes of Health (NIH) human genomics grant portfolio includes implementation science is unknown. This brief report's objective is to describe recently funded implementation science studies in genomic medicine in the NIH grant portfolio, and identify remaining gaps.
We identified investigator-initiated NIH research grants on implementation science in genomic medicine (funding initiated 2012-2016). A codebook was adapted from the literature, three authors coded grants, and descriptive statistics were calculated for each code.
Forty-two grants fit the inclusion criteria (~1.75% of investigator-initiated genomics grants). The majority of included grants proposed qualitative and/or quantitative methods with cross-sectional study designs, and described clinical settings and primarily white, non-Hispanic study populations. Most grants were in oncology and examined genetic testing for risk assessment. Finally, grants lacked the use of implementation science frameworks, and most examined uptake of genomic medicine and/or assessed patient-centeredness.
We identified large gaps in implementation science studies in genomic medicine in the funded NIH portfolio over the past 5 years. To move the genomics field forward, investigator-initiated research grants should employ rigorous implementation science methods within diverse settings and populations.
实施科学为评估基因组医学研究转化为实践提供了方法。美国国立卫生研究院（NIH）人类基因组资助组合中包含实施科学的程度尚不清楚。本简要报告的目的是描述 NIH 资助组合中基因组医学中最近资助的实施科学研究，并确定仍存在的差距。
我们确定了由调查员发起的 NIH 研究资助，涉及基因组医学中的实施科学（2012-2016 年启动的资助）。我们从文献中改编了一个编码本，三位作者对资助进行了编码，并对每个编码进行了描述性统计。
有 42 项资助符合纳入标准（约占调查员发起的基因组学资助的 1.75%）。纳入的大多数资助提出了定性和/或定量方法，并采用了横断面研究设计，描述了临床环境，主要是白人、非西班牙裔的研究人群。大多数资助都集中在肿瘤学领域，研究了遗传风险评估测试。最后，资助缺乏实施科学框架的使用，大多数资助研究了基因组医学的应用情况和/或评估了以患者为中心的情况。
我们发现，在过去 5 年中，NIH 资助组合中的基因组医学实施科学研究存在很大差距。为了推动基因组学领域的发展，调查员发起的研究资助应在不同的环境和人群中采用严格的实施科学方法。
