Loyola University Chicago, Strich School of Medicine.
Loyola Medical Center.
Milbank Q. 2022 Dec;100(4):1192-1242. doi: 10.1111/1468-0009.12587. Epub 2022 Dec 1.
Policy Points American health care policy must be critically assessed to establish the role it plays in sustaining and alleviating the health disparities that currently exist in molecular genetic testing. It is critical to understand the economic and sociocultural influences that drive patients to undergo or forgo molecular testing, especially in marginalized patient populations. A multipronged solution with actions necessary from multiple stakeholders is required to reduce the cost of health care, rebalance regional disparities, encourage physician engagement, reduce data bias, and earn patients' trust.
The health status of a population is greatly influenced by both biological processes and external factors. For years, minority and low socioeconomic patient populations have faced worse outcomes and poorer health in the United States. Experts have worked extensively to understand the issues and find solutions to alleviate this disproportionate burden of disease. As a result, there have been some improvements and successes, but wide gaps still exist. Diagnostic molecular genetic testing and so-called personalized medicine are just now being integrated into the current American health care system. The way in which these tests are integrated can either exacerbate or reduce health disparities.
We provide case scenarios-loosely based on real-life patients-so that nonexperts can see the impacts of complex policy decisions and unintentional biases in technology without needing to understand all the intricacies. We use data to explain these findings from an extensive literature search examining both peer-reviewed and gray literature.
Access to diagnostic molecular genetic testing is not equitable or sufficient, owing to at least five major factors: (1) cost to the patient, (2) location, (3) lack of provider buy-in, (4) data-set bias, and (5) lack of public trust.
Molecular genetic pathology can be made more equitable with the concerted efforts of multiple stakeholders. Confronting the five major factors identified here may help us usher in a new era of precision medicine without its discriminatory counterpart.
政策要点 美国的医疗保健政策必须进行严格评估,以确定其在维持和减轻目前分子遗传检测中存在的健康差距方面所发挥的作用。了解驱动患者进行或放弃分子检测的经济和社会文化影响至关重要,尤其是在边缘化的患者群体中。需要采取多方利益相关者共同采取的多管齐下的解决方案,以降低医疗成本、平衡区域差距、鼓励医生参与、减少数据偏差并赢得患者的信任。
人口的健康状况受生物过程和外部因素的影响很大。多年来,少数族裔和低社会经济地位的患者群体在美国的健康状况较差,疾病负担也更重。专家们广泛努力了解问题并寻找解决方案,以减轻这种不成比例的疾病负担。因此,虽然已经取得了一些改善和成功,但差距仍然很大。诊断性分子遗传检测和所谓的个性化医学才刚刚被纳入当前的美国医疗保健体系。这些测试的整合方式可能会加剧或减少健康差距。
我们提供了一些案例场景,这些场景是基于真实患者的情况,以便非专业人士能够看到复杂政策决策和技术中无意识偏见的影响,而无需了解所有的细节。我们使用数据从广泛的文献搜索中解释这些发现,其中包括同行评议和灰色文献。
由于至少五个主要因素,诊断性分子遗传检测的获取并不公平或充足:(1)患者的费用,(2)地理位置,(3)缺乏提供者的认可,(4)数据集偏差,以及(5)缺乏公众信任。
通过多个利益相关者的共同努力,可以使分子遗传病理学更加公平。应对这里确定的五个主要因素可能有助于我们迎来一个没有歧视性的精准医学新时代。