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Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations
Giovanna Câmara Giudicelli1,2,3, Celia Mariana Barbosa De Souza4,5, Francisco Veríssimo Veronese4,5
1Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.
Insights
Apolipoprotein L1 (APOL1) gene variants are linked to chronic kidney disease (CKD) risk, particularly in individuals of African ancestry. Understanding APOL1 in diverse populations is crucial for advancing precision medicine and improving CKD care globally.
Area of Science:
- Genetics
- Nephrology
- Public Health
Background:
- Chronic Kidney Disease (CKD) is a significant public health issue with known genetic and environmental risk factors.
- Specific Apolipoprotein L1 (APOL1) gene alleles are prevalent in individuals of African ancestry and associated with increased CKD risk and severity.
- Current research on APOL1 and CKD in low- and middle-income countries and admixed populations remains limited.
Purpose of the Study:
- To highlight the importance of APOL1 genetic variants in CKD pathogenesis across diverse ancestries.
- To advocate for the inclusion of varied ancestral groups, including Latinos, African Americans, and Indigenous peoples, in genetic studies.
- To emphasize the potential of precision medicine in managing APOL1-associated CKD through early diagnosis and targeted therapies.
Main Methods:
- Review of existing genomic studies and epidemiological data on APOL1 and CKD.
- Analysis of the role of genetic ancestry in clinical care for admixed populations.
- Discussion of the need for developing resources and methodologies for precision medicine in diverse communities.
Main Results:
- APOL1 risk alleles are disproportionately associated with CKD in individuals of African ancestry.
- Genetic ancestry measurement can enhance clinical care for admixed individuals with CKD.
- Limited data exists on APOL1's impact in admixed populations and low-resource settings.
Conclusions:
- Incorporating diverse ancestral profiles into CKD research is essential for a comprehensive understanding of APOL1 variants.
- Precision medicine strategies for APOL1-associated CKD require tailored approaches for admixed and underrepresented populations.
- Developing community-centered resources and incentives is vital for equitable implementation of precision medicine and scientific diversity.
Abstract:
Chronic Kidney Disease (CKD) is a public health problem that presents genetic and environmental risk factors. Two alleles in the Apolipoprotein L1 (APOL1) gene were associated with chronic kidney disease; these alleles are common in individuals of African ancestry but rare in European descendants. Genomic studies on Afro-Americans have indicated a higher prevalence and severity of chronic kidney disease in people of African ancestry when compared to other ethnic groups. However, estimates in low- and middle-income countries are still limited. Precision medicine approaches could improve clinical outcomes in carriers of risk alleles in the Apolipoprotein L1 gene through early diagnosis and specific therapies. Nevertheless, to enhance the definition of studies on these variants, it would be necessary to include individuals with different ancestry profiles in the sample, such as Latinos, African Americans, and Indigenous peoples. There is evidence that measuring genetic ancestry improves clinical care for admixed people. For chronic kidney disease, this knowledge could help establish public health strategies for monitoring patients and understanding the impact of the Apolipoprotein L1 genetic variants in admixed populations. Therefore, researchers need to develop resources, methodologies, and incentives for vulnerable and disadvantaged communities, to develop and implement precision medicine strategies and contribute to consolidating diversity in science and precision medicine in clinical practice.
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