Sharma Yashoda, Cox Livia, Kruger Lucie, Channamsetty Veena, Haga Susanne B
Weitzman Institute, Community Health Center, Inc., Middletown, Connecticut, USA.
Wesleyan University, Middletown, Connecticut, USA.
Public Health Genomics. 2021 Sep 7:1-10. doi: 10.1159/000518415.
Increased genomics knowledge and access are advancing precision medicine and care delivery. With the translation of precision medicine across health care, genetics and genomics will play a greater role in primary care services. Health disparities and inadequate representation of racial and ethnically diverse groups threaten equitable access for those historically underserved. Health provider awareness, knowledge, and perceived importance are important determinants of the utilization of genomic applications.
We evaluated the readiness of primary care providers at a Federally Qualified Health Center, the Community Health Center, Inc. (CHCI) for delivering genetic and genomic testing to underserved populations. Online survey questions focused on providers' education and training in basic and clinical genetics, familiarity with current genetic tests, and needs for incorporating genetics and genomics into their current practice.
Fifty of 77 (65%) primary care providers responded to the survey. Less than half received any training in basic or clinical genetics (40%), were familiar with specific genetic tests (36%), or felt confident with collecting family health history (44%), and 70% believed patients would benefit from genetic testing.
Despite knowledge gaps, respondents recognized the value and need to bring these services to their patients, though would like more education on applying genetics and genomics into their practice, and more training about discussing risk factors associated with race or ethnicity. We provide further evidence of the need for educational resources and standardized guidelines for providers caring for underserved populations to optimize appropriate use and referral of genetic and genomic services and to reduce disparities in care.
基因组学知识的增加以及获取途径的拓展正在推动精准医学和医疗服务的发展。随着精准医学在医疗保健领域的推广，遗传学和基因组学将在初级保健服务中发挥更大作用。健康差距以及种族和族裔多样化群体代表性不足，威胁到历史上未得到充分服务人群的公平获取。医疗服务提供者的意识、知识和感知重要性是基因组应用利用情况的重要决定因素。
我们评估了联邦合格健康中心——社区健康中心公司（CHCI）的初级保健提供者为未得到充分服务人群提供基因和基因组检测的准备情况。在线调查问题聚焦于提供者在基础和临床遗传学方面的教育和培训、对当前基因检测的熟悉程度以及将遗传学和基因组学纳入其当前实践的需求。
77名初级保健提供者中有50名（65%）回复了调查。不到一半的人接受过基础或临床遗传学方面的任何培训（40%），熟悉特定基因检测（36%），或对收集家族健康史有信心（44%），70%的人认为患者将从基因检测中受益。
尽管存在知识差距，但受访者认识到为患者提供这些服务的价值和必要性，不过希望在将遗传学和基因组学应用于实践方面获得更多教育，以及在讨论与种族或族裔相关的风险因素方面获得更多培训。我们进一步证明，为服务未得到充分服务人群的提供者提供教育资源和标准化指南，对于优化基因和基因组服务的适当使用和转诊以及减少护理差距是必要的。
