Institute of Global Health and Human Ecology, School of Sciences and Engineering, The American University in Cairo, Cairo, 11835, Egypt.
Department of Pharmacology and Biochemistry, Faculty of Pharmacy, The British University in Egypt (BUE), Cairo, 11837, Egypt.
Funct Integr Genomics. 2023 Jan 31;23(1):54. doi: 10.1007/s10142-023-00979-4.
Improvements in sequencing technology coupled with dramatic declines in the cost of genome sequencing have led to a proportional growth in the size and number of genetic datasets since the release of the human genetic sequence by The Human Genome Project (HGP) international consortium. The HGP was undeniably a significant scientific success, a turning point in human genetics and the beginning of human genomics. This burst of genetic information has led to a greater understanding of disease pathology and the potential of employing this data to deliver more precise patient care. Hence, the recognition of high-penetrance disease-causing mutations which encode drivers of disease has made the management of most diseases more specific. Nonetheless, while genetic scores are becoming more extensively used, their application in the real world is expected to be limited due to the lack of diversity in the data used to construct them. Underrepresented populations, such as racial and ethnic minorities, low-income individuals, and those living in rural areas, often experience greater health disparities and worse health outcomes compared to the general population. These disparities are often the result of systemic barriers, such as poverty, discrimination, and limited access to healthcare. Addressing health inequity in underrepresented populations requires addressing the underlying social determinants of health and implementing policies and programs which promoted health equity and reduce disparities. This can include expanding access to affordable healthcare, addressing poverty and unemployment, and promoting policies that combat discrimination and racism.
测序技术的进步以及基因组测序成本的大幅下降,使得自人类基因组计划(HGP)国际联盟发布人类遗传序列以来,遗传数据集的规模和数量呈比例增长。HGP 无疑是一项重大的科学成功,是人类遗传学的一个转折点,也是人类基因组学的开端。这一波遗传信息的爆发,使我们对疾病的病理机制有了更深入的了解,并有可能利用这些数据为患者提供更精准的治疗。因此,识别出高外显率的致病突变,这些突变编码了疾病的驱动因素,使得大多数疾病的治疗更加具有针对性。尽管如此,尽管遗传评分越来越广泛地被应用,但由于用于构建它们的数据缺乏多样性,其在现实世界中的应用预计将受到限制。代表性不足的人群,如少数族裔、低收入人群和居住在农村地区的人群,与一般人群相比,往往面临更大的健康差距和更差的健康结果。这些差距往往是由于系统性障碍造成的,如贫困、歧视和有限的医疗保健机会。解决代表性不足人群中的健康不平等问题需要解决健康的社会决定因素,并实施促进健康公平和减少差距的政策和计划。这包括扩大负担得起的医疗保健的获取、解决贫困和失业问题,以及推行打击歧视和种族主义的政策。