Diversity and inclusion in genomic research: why the uneven progress?

Abstract

Conducting genomic research in diverse populations has led to numerous advances in our understanding of human history, biology, and health disparities, in addition to discoveries of vital clinical significance. Conducting genomic research in diverse populations is also important in ensuring that the genomic revolution does not exacerbate health disparities by facilitating discoveries that will disproportionately benefit well-represented populations. Despite the general agreement on the need for genomic research in diverse populations in terms of equity and scientific progress, genomic research remains largely focused on populations of European descent. In this article, we describe the rationale for conducting genomic research in diverse populations by reviewing examples of advances facilitated by their inclusion. We also explore some of the factors that perpetuate the disproportionate attention on well-represented populations. Finally, we discuss ongoing efforts to ameliorate this continuing bias. Collaborative and intensive efforts at all levels of research, from the funding of studies to the publication of their findings, will be necessary to ensure that genomic research does not conserve historical inequalities or curtail the contribution that genomics could make to the health of all humanity.

Enhancing inclusion of diverse populations in genomics: A competence framework

“…A study exploring the views of people from UK Black African and Black Caribbean communities showed a lack of organizational commitment, economic support, policies, practice, strategic vision, and leadership in engaging these participants in the 100,000 genomes project (Skyers, 2018). Literature focusing on ethnic disparities in genomic research has shown the need for a global approach, strategic vision, funding, development of skilled workforce, and community engagement programs promoting equitable access to genomics (Bentley et al, 2017; Mathew et al, 2017), but little progress has been made yet.…”

The role of race and ethnicity in views toward and participation in genetic studies and precision medicine research in the United States: A systematic review of qualitative and quantitative studies

“…these mechanisms with cutting-edge treatments, and develop strategies to tailor each therapy to an individual's unique genetic profile and lifestyle (Bentley, Callier, & Rotimi, 2017). In 2007, the Genomics and Personalized Medicine Act was passed by the United States Congress, and research efforts ramped up drastically in January 2015 with the implementation of the Precision Medicine Initiative by President Barack Obama (Adams & Petersen, 2016;Barlas, 2015).…”

Precision Medicine: Familiarity, Perceived Health Drivers, and Genetic Testing Considerations Across Health Literacy Levels in a Diverse Sample

“…One challenge is that it cannot be assumed that precision medicine will be “actionable” in real‐world settings or that all patients stand to benefit equally (Bayer and Galea ). The cultural and structural context of underserved racial/ethnic groups and economically challenged populations can impact how members of these groups think about a nd act on their health (Egede ; Williams et al ; Williams et al ); therefore, it is important to understand how diverse patients may regard aspects of precision medicine in order to optimize implementation (Bentley et al ). Additionally, individuals with lower health literacy may have less familiarity to concepts in precision medicine and may be unaware of gaps in their existing knowledge, and how to best apply new information to workable solutions (Paasche‐Orlow and Wolf ; Sorensen et al ).…”