Disease Prevention, Diagnosis and Treatment in Underrepresented Populations

Key Takeaways:

• Many diseases disproportionately affecting underrepresented populations remain understudied and poorly understood.
• The historical lack of diverse representation in genomic research has hindered progress in understanding the biological and environmental factors contributing to disease risk across varied ancestries.
• Conditions such as sickle cell disease, Chagas disease, and type 2 diabetes highlight the pressing need for increased research focus on populations that are not of European descent.
• Prioritizing inclusive research will benefit populations underrepresented in research and deepen our fundamental understanding of human health and disease.

 

For far too long, medical research has largely overlooked the health challenges faced by populations of diverse ancestry, resulting in underrepresentation in research and a greater need for understanding diseases that disproportionately affect these populations. As we strive to achieve health equity and advance precision medicine, it is essential to acknowledge this historical disparity and prioritize research efforts that encompass the breadth of human diversity.

 

The Legacy of Genomic Underrepresentation

A primary driver of this research gap is the historical lack of diversity in genomic studies. Despite the profound insights gained from initiatives such as the Human Genome Project, most participants have been of European ancestry. This bias has resulted in an incomplete picture of the complex interplay between genetic variation, ancestral backgrounds, and disease risk, hampering the development of targeted interventions for underrepresented populations.

 

Disease-Specific Insights

Sickle Cell Disease: A Paradigm of Historical Inequity

Sickle cell disease (SCD) primarily affects individuals of African descent. Despite its prevalence and significant impact on quality of life, SCD stands as a stark example of a chronically underfunded and understudied condition. This inequity has left affected individuals and their families grappling with a lack of targeted treatments and comprehensive care strategies tailored to their needs.

 

The Chagas Conundrum

Chagas disease, caused by the parasite Trypanosoma cruzi, predominantly affects individuals living in Latin America. This chronic, potentially life-threatening condition remains a significant public health concern, yet its mechanisms and treatment options are poorly understood due to insufficient research.

 

Type 2 Diabetes: A Global Epidemic with Uneven Focus

Even conditions with a global impact, such as type 2 diabetes , have been disproportionately studied in populations of European descent. This hinders the understanding of possible unique genetic and environmental factors that contribute to the high prevalence of type 2 diabetes in underrepresented populations.

 

Breaking Down Barriers, Elevating Understanding

The consequences of this historical research disparity extend beyond the immediate health burden on disproportionately affected communities. Studying diseases across diverse ancestries is crucial for deepening our understanding of human biology and disease mechanisms. The unique genetic, environmental, and cultural contexts of each population offer invaluable insights for new prevention, diagnosis, and treatment avenues – benefiting everyone.

 

Paving the Way for Inclusive Research

To rectify this historical disparity, researchers must recognize diversity as a strength and prioritize inclusive research practices. This endeavor requires a multifaceted approach, fostering collaborations among researchers, community leaders, policymakers, and funding agencies.

Engaging underrepresented communities through community-based participatory research (CBPR) models is crucial. Active involvement in the research process, from study design to dissemination, builds trust, ensures cultural sensitivity, and addresses barriers and concerns that may have deterred historical participation.

 

Diversifying Cohorts and Biobanks

Efforts to diversify research cohorts and biobanks are essential. This will enable a robust representation of diverse ancestries and facilitate large-scale genomic and epidemiological studies. Leveraging precision multi-ancestry genotyping arrays and whole genome sequencing is crucial for capturing the full spectrum of genetic variation and its disease implications.

 

Fostering Interdisciplinary Collaboration

Bridging genomics, epidemiology, social sciences, and public health through interdisciplinary collaboration is necessary to address this research gap. Integrating diverse perspectives and expertise develops holistic approaches that account for the complex biological, environmental, and sociocultural factors shaping disease manifestations.

 

A Path Toward Health Equity

Prioritizing research on diseases prevalent in underrepresented populations is a scientific and ethical imperative. Illuminating these diseases paves the way for targeted interventions, personalized care, and better health outcomes for historically marginalized communities. Moreover, this commitment to inclusive research will deepen our understanding of human health and disease,  guiding healthcare  toward a future where precision medicine is attainable for all.

 

As we embark on this journey, a steadfast commitment to health equity ensures no community is left behind. Elevating the voices and addressing the needs of an underrepresented population helps forge a just and inclusive path forward that recognizes the value of every human life and embraces a collective pursuit of well-being.

 

Sources:

1. Petrovski, S., & Goldstein, D. B. (2016). Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Genome biology, 17(1), 1-3.
2. Rotimi, C. N., & Ngcungcu, T. N. (2021). Genomics of sickle cell disease: a perspective from Africa. The Lancet Haematology, 8(6), e415-e424.
3. Hotez, P. J. (2010). Neglected infections of poverty among the indigenous peoples of the Arctic. PLoS neglected tropical diseases, 4(1), e606.
4. Nair, G. G., & Morse, S. A. (2021). A call for research on type 2 diabetes mellitus in underrepresented populations. Nature Reviews Endocrinology, 17(5), 273-274.
5. Isler, M. R., & Corbie-Smith, G. (2012). Practical steps to community engaged research: from inputs to outcomes. The Journal of Law, Medicine & Ethics, 40(4), 904-914.