Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GA.
Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GA.
Genet Med. 2022 Aug;24(8):1630-1639. doi: 10.1016/j.gim.2022.04.009. Epub 2022 Apr 28.
Recent reviews have emphasized the need for a health equity agenda in genomics research. To ensure that genomic discoveries can lead to improved health outcomes for all segments of the population, a health equity agenda needs to go beyond research studies. Advances in genomics and precision medicine have led to an increasing number of evidence-based applications that can reduce morbidity and mortality for millions of people (tier 1). Studies have shown lower implementation rates for selected diseases with tier 1 applications (familial hypercholesterolemia, Lynch syndrome, hereditary breast and ovarian cancer) among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. We make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine. Public health actions can be centered on population-specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions. Crucial public health activities also include engaging communities, building coalitions, improving genetic health literacy, and building a diverse workforce. Without concerted public health action, further advances in genomics with potentially broad applications could lead to further widening of health disparities in the next decade.
最近的评论强调了在基因组学研究中需要制定健康公平议程。为了确保基因组学发现能够改善所有人群的健康结果,健康公平议程需要超越研究。基因组学和精准医学的进步带来了越来越多的循证应用,这些应用可以减少数百万人的发病率和死亡率(一级)。研究表明,在少数族裔群体、农村社区、没有保险或保险不足的人群以及受教育程度和收入较低的人群中,具有一级应用的某些疾病(家族性高胆固醇血症、林奇综合征、遗传性乳腺癌和卵巢癌)的实施率较低。我们认为需要制定公共卫生议程来解决基因组学和精准医学实施方面的差异。公共卫生行动可以以特定人群的需求和结果评估、政策和证据制定以及确保提供有效和合乎道德的干预措施为中心。至关重要的公共卫生活动还包括让社区参与、建立联盟、提高遗传健康素养以及建设多元化的劳动力队伍。如果没有协调一致的公共卫生行动,未来十年,具有广泛应用潜力的基因组学进一步发展可能会导致健康差距进一步扩大。