Nuytemans Karen, Manrique Clara P, Uhlenberg Aaron, Scott William K, Cuccaro Michael L, Luca Corneliu C, Singer Carlos, Vance Jeffery M
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, United States.
Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, United States.
Front Genet. 2019 Jul 16;10:658. doi: 10.3389/fgene.2019.00658. eCollection 2019.
Involvement of participants from different racial and ethnic groups in genomic research is vital to reducing health disparities in the precision medicine era. Racial and ethnically diverse populations are underrepresented in current genomic research, creating bias in result interpretation. Limited information is available to support motivations or barriers of these groups to participate in genomic research for late-onset, neurodegenerative disorders. To evaluate willingness for research participation, we compared motivations for participation in genetic studies among 113 Parkinson disease (PD) patients and 49 caregivers visiting the Movement Disorders clinic at the University of Miami. Hispanics and non-Hispanics were equally motivated to participate in genetic research for PD. However, Hispanic patients were less likely to be influenced by the promise of scientific advancements ( = 0.01). This lack of scientific interest, but not other motivations, was found to be likely confounded by lower levels of obtained education ( = 0.001). Overall, these results suggest that underrepresentation of Hispanics in genetic research may be partly due to reduced invitations to these studies.
在精准医学时代，让来自不同种族和族裔群体的参与者参与基因组研究对于减少健康差距至关重要。目前的基因组研究中，种族和族裔多样化人群的代表性不足，这在结果解释中造成了偏差。关于这些群体参与迟发性神经退行性疾病基因组研究的动机或障碍，可用信息有限。为了评估参与研究的意愿，我们比较了迈阿密大学运动障碍诊所的113名帕金森病（PD）患者和49名护理人员参与基因研究的动机。西班牙裔和非西班牙裔参与PD基因研究的积极性相当。然而，西班牙裔患者受科学进步前景影响的可能性较小（P = 0.01）。发现这种对科学缺乏兴趣的情况，而非其他动机，可能与较低的受教育程度有关（P = 0.001）。总体而言，这些结果表明西班牙裔在基因研究中代表性不足可能部分是由于参与这些研究的邀请较少。
