探索遗传性心肌病基因检测和研究中的医疗差距:现状与未来展望》。

IF 1.2 Q4 GENETICS & HEREDITY
Global Medical Genetics Pub Date : 2024-02-01 eCollection Date: 2024-01-01 DOI:10.1055/s-0044-1779469
Helen Huang, Jay Verma, Valerie Mok, Hareesha R Bharadwaj, Maen M Alrawashdeh, Adarsh Aratikatla, Sourav Sudan, Suprateeka Talukder, Minatoullah Habaka, Gary Tse, Mainak Bardhan
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引用次数: 0

摘要

背景 遗传性心肌病是影响心脏结构和功能的常见心肌病,与遗传或家族遗传有关,但病因往往不明。心肌病与高死亡率有关,因此需要通过基因检测和早期诊断进行强有力的风险分层。假设 我们假设,在临床实践和研究调查中,遗传性心肌病的基因检测存在医疗差距。方法 我们以叙述的方式在 PubMed/MEDLINE、Google Scholar、EMBASE 和 Science Direct 等在线数据库中对有关遗传性心肌病的论文进行了文献检索。我们将有关诊断和治疗差异的英文文章结果分为四类进行了综合分析。结果 在研究注册和医疗保健服务方面存在的种族和民族差异有利于白种人和社会经济地位较高的人,从而导致在制定和实施有效的基因筛查方面存在差异。这种差异已被证明是有害的,因为少数群体往往会因疾病恶化而导致心力衰竭和心脏性猝死。与临床基因检测有关的障碍包括与保险有关的问题和健康文盲。少数群体代表性不足的问题还延伸到了研究方法上,因为对少数族裔进行检测会导致检测率和诊断率明显降低,变异体分类错误的可能性也更高。结论 优先考虑以少数民族为基础的参与性研究计划和筛查方案可以解决系统性差异问题。多样化的研究可以改善风险分层策略并影响临床实践。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives.

Background  Hereditary cardiomyopathies are commonly occurring myocardial conditions affecting heart structure and function with a genetic or familial association, but the etiology is often unknown. Cardiomyopathies are linked to significant mortality, requiring robust risk stratification with genetic testing and early diagnosis. Hypothesis  We hypothesized that health care disparities exist in genetic testing for hereditary cardiomyopathies within clinical practice and research studies. Methods  In a narrative fashion, we conducted a literature search with online databases such as PubMed/MEDLINE, Google Scholar, EMBASE, and Science Direct on papers related to hereditary cardiomyopathies. A comprehensive analysis of findings from articles in English on disparities in diagnostics and treatment was grouped into four categories. Results  Racial and ethnic disparities in research study enrollment and health care delivery favor White populations and higher socioeconomic status, resulting in differences in the development and implementation of effective genetic screening. Such disparities have shown to be detrimental, as minorities often suffer from disease progression to heart failure and sudden cardiac death. Barriers related to clinical genetic testing included insurance-related issues and health illiteracy. The underrepresentation of minority populations extends to research methodologies, as testing in ethnic minorities resulted in a significantly lower detection rate and diagnostic yield, as well as a higher likelihood of misclassification of variants. Conclusions  Prioritizing minority-based participatory research programs and screening protocols can address systemic disparities. Diversifying research studies can improve risk stratification strategies and impact clinical practice.

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来源期刊
Global Medical Genetics
Global Medical Genetics GENETICS & HEREDITY-
自引率
11.80%
发文量
30
审稿时长
14 weeks
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