Advancing Understanding of Inequities in Rare Disease Genomics
Advancing Understanding of Inequities in Rare Disease Genomics
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DOI：
10.1016/j.clinthera.2023.06.010
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发表时间：
2023-08-31
影响因子：
3.2
通讯作者：
Wojcik, Monica H.
中科院分区：
文献类型：
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作者：
Serrano, Jillian G.;O'Leary, Melanie;Wojcik, Monica H.
目的：基因组研究的进展为成千上万的人提供了罕见疾病诊断的便利。不幸的是，先进的基因诊断技术的好处并没有在人口中公平分配，正如在许多其他卫生保健方面所看到的那样。由于临床和研究基因检测的障碍，量化和描述基因诊断产量的不公平性本质上是具有挑战性的。因此，我们提出了一个实施方案，以扩大访问我们的罕见疾病基因组研究的研究，并进一步了解现有的不公平现象。方法和结果：罕见基因组项目（RGP）在广泛的研究所麻省理工学院和哈佛提供了研究基因组测序的个人与罕见疾病谁仍然是遗传未确诊的个人或家庭通过直接互动。这为临床背景之外的诊断提供了机会，从而消除了许多获取障碍。RGP的最初目标是通过将测试访问与接近主要医疗中心和医生转诊分离来平等地获得基因组测序。然而，该项目最初3年的研究参与者主要是白色，资源充足。为了进一步了解和解决RGP缺乏多样性的问题，我们开发了一种新的协议，嵌入在更大的RGP研究中，采用一种由实施科学框架提供信息的方法。该方案的目的是：（1）在RGP中实现招募和入组的多样化;（2）了解实施基因组医学用于罕见疾病诊断的过程和背景;（3）调查诊断对服务不足人群的价值。含义：需要更好地了解现有的不平等现象和解决这些问题的潜在战略，以促进罕见病遗传诊断和研究的公平性。除了在基因组医学中公平的道德责任外，这种方法对于充分理解罕见疾病的基因组基础至关重要。
Purpose: Advances in genomic research have facilitated rare disease diagnosis for thousands of individuals. Unfortunately, the benefits of advanced genetic diagnostic technology are not distributed equitably among the population, as has been seen in many other health care contexts. Quantifying and describing inequities in genetic diagnostic yield is inherently challenging due to barriers to both clinical and research genetic testing. We therefore present an implementation protocol developed to expand access to our rare disease genomic research study and to further understand existing inequities.Methods and Findings: The Rare Genomes Project (RGP) at the Broad Institute of MIT and Harvard offers re-search genome sequencing to individuals with rare disease who remain genetically undiagnosed through direct interaction with the individual or family. This presents an opportunity for diagnosis beyond the clinical context, thus eliminating many barriers to access. An initial goal of RGP was to equalize access to genomic sequencing by decoupling testing access from proximity to a major medical center and physician referral. However, study participants over the initial 3 years of this project were predominantly white and well resourced. To further understand and address the lack of diversity within RGP, we developed a novel protocol embedded within the larger RGP study, in an approach informed by an implementation science framework. The aims of this protocol were: (1) to diversify recruitment and enrollment within RGP; (2) understand the process and context of implementing genomic medicine for rare disease diagnosis; and (3) investigate the value of a diagnosis for underserved populations. Implications: Improved understanding of existing inequities and potential strategies to address them are needed to advance equity in rare disease genetic diagnosis and research. In addition to the moral imperative of equity in genomic medicine, this approach is critical in order to fully understand the genomic underpinnings of rare disease.