Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Transl Vis Sci Technol. 2024 Sep 3;13(9):4. doi: 10.1167/tvst.13.9.4.
Hereditary eye diseases (HEDs) are individually rare but affect millions globally. The era of molecular genetics has ushered major advances in the study of these disorders; however, the inclusivity and population diversity of this research is unknown. Questions on the accuracy and applicability of these findings in diverse populations, especially African American patients, came up consistently during counselling sessions. This also raised the possibility of missed opportunities for broader understanding of these rare diseases. We conducted a literature review to measure the representation of African Americans in genomic research surrounding nine HEDs.
A detailed literature search using a predetermined set of search terms for each of nine HED categories was performed across PubMed, Embase, Web of Science, and Scopus focusing on studies published between Jan 1990 and July 2021. Predetermined inclusion criteria were applied to filter the sources.
We identified 46 studies clearly reporting HED characterization in African Americans. Analysis of these inclusive studies revealed unique findings demonstrating the known usefulness of including diverse cohorts in genomics research.
HED characterization in diverse participants, specifically African Americans, is identified as a knowledge gap area. Genomic research is more applicable to patients when conducted in populations that share their ancestral background. Greater inclusion of African Americans in ophthalmic genetics research is a scientific imperative and a needed step in the pursuit of the best possible patient care for populations of all ancestries.
This work reveals gaps in genomic research in African Americans with HEDs.
遗传性眼病（HED）虽然个体罕见，但在全球范围内却影响着数百万人。分子遗传学时代的到来，使得对这些疾病的研究取得了重大进展；然而，这项研究的包容性和人群多样性却不得而知。在咨询过程中，人们反复提出了这些发现对不同人群（尤其是非裔美国患者）的准确性和适用性的问题。这也使得人们有可能错失了更广泛地了解这些罕见疾病的机会。我们进行了文献回顾，以衡量九种遗传性眼病相关的基因组研究中非洲裔美国人的代表性。
我们使用预定的搜索词，在 PubMed、Embase、Web of Science 和 Scopus 中对九种遗传性眼病类别进行了详细的文献搜索，重点是 1990 年 1 月至 2021 年 7 月期间发表的研究。应用预定的纳入标准来筛选来源。
我们确定了 46 项明确报告非裔美国人遗传性眼病特征的研究。对这些包容性研究的分析揭示了独特的发现，证明了在基因组学研究中纳入不同队列的已知有用性。
在不同参与者中，特别是非裔美国人中，对遗传性眼病的特征描述被确定为一个知识空白领域。当在具有相同祖先背景的人群中进行基因组研究时，它对患者更具适用性。更大程度地将非裔美国人纳入眼科遗传学研究是科学的当务之急，也是为所有族裔的患者提供尽可能好的护理的必要步骤。
医学科学
