Emerging Role of Clinical Genetics in CKD

Devarajan, Prasad; Chertow, Glenn M.; Suszták, Katalin; Levin, Adeera; Agarwal, Rajiv; Stenvinkel, Peter; Chapman, Arlene B.; Warady, Bradley A.

doi:10.1016/j.xkme.2022.100435

Cited by 17 publications

(10 citation statements)

References 84 publications

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“…Frontiers (Devarajan et al, 2022). Examples of the clinical utility of genetic diagnoses in nephrology have been discussed (Groopman et al, 2018), ratifying the importance of a specific marker to orientate precision medicine APOL1 testing.…”

Section: Main Challenges Opportunities and Perspectivesmentioning

confidence: 99%

“…Aiming to answer questions related to genetics and CKD, studies applying next-generation sequencing approaches have been conducted ( Groopman et al, 2019 ; Mann et al, 2019 ; Rasouly et al, 2019 ; Breeze et al, 2021 ). Common indications for CKD genetic testing include unclear etiology, positive family history, early-onset, and personalized treatment based on genetic biomarkers ( Devarajan et al, 2022 ). Examples of the clinical utility of genetic diagnoses in nephrology have been discussed ( Groopman et al, 2018 ), ratifying the importance of a specific marker to orientate precision medicine APOL1 testing.…”

Section: Main Challenges Associated With Apol1 Tes...mentioning

confidence: 99%

“…More recently, Zhang and colleagues ( Zhang et al, 2021 ) evaluated two large cohorts and showed a strong correlation between the number of recipients of high-risk alleles and death-censored allograft loss, independent of donor APOL1 genotype and recipient ancestry (HR = 2.14; p = 0.006). In this regard, genetic information and diagnosis are helpful to guide and manage the transplant for both living donors and recipients, as well as contribute to therapeutic decisions when a kidney transplant is not an option ( Devarajan et al, 2022 ).…”

Section: Main Challenges Associated With Apol1 Tes...mentioning

confidence: 99%

“…Since only a proportion of individuals that present APOL1 risk genotypes develops kidney disease, studies considering long-term outcomes of individuals with APOL1 risk genotypes and allograft survival from donors with the APOL1 risk genotypes will be useful to guide APOL1 genetic testing and understand the status of APOL1 risk variants in nephrology ( Young et al, 2017 ). Although no specific mechanism of kidney disease association, prevention, or therapy has been yet developed for CKD, there are many examples of the clinical utility of genetic diagnoses for kidney diseases (for more information see the reviews Devarajan et al (2022) ; Groopman et al (2018) . Potential therapeutic drugs and strategies have been studied ( Kruzel-Davila et al, 2017 ), but mainly on North American and/or European populations.…”

Section: Opportunities and Perspectivesmentioning

confidence: 99%

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Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations

et al. 2022

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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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Section: Main Challenges Opportunities and Perspectivesmentioning

confidence: 99%

Section: Main Challenges Associated With Apol1 Tes...mentioning

confidence: 99%

Section: Main Challenges Associated With Apol1 Tes...mentioning

confidence: 99%

Section: Opportunities and Perspectivesmentioning

confidence: 99%

See 2 more Smart Citations

Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations

et al. 2022

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“…Nevertheless, there still is much debate and uncertainly toward implementation of genetic testing in routine clinical practice, especially in adult nephrology, with questions such as: what are the exact indications for diagnostic genetic testing, should genetic testing precede or follow other diagnostic procedures such as a kidney biopsy, and how can genetic testing be responsibly incorporated in the busy nephrology practice, considering the need for appropriate pre‐test and post‐test genetic counseling? (Devarajan et al, 2022; KDIGO conference participants, 2022; Knoers et al, 2022).…”

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confidence: 99%