#NephMadness 2017: The Case for Genes in ESKD Disparity

The Finalists for NephMadness 2017 have been announced! Here, Dr. Peralta makes her case for Genes in ESKD Disparity:

Carmen A. Peralta

Dr. Peralta, MD, is Co-Founder and Executive Director of the Kidney Health Research Collaborative (KHRC). She is an Associate Professor of Medicine at the University of California San Francisco (UCSF) and a practicing nephrologist at the UCSF Nephrology and Hypertension Faculty Practice. Dr. Peralta is known for her work in identifying those at risk of developing ESKD, a condition disproportionately affecting African Americans and Hispanics. She is passionate about reducing race/ethnic disparities in kidney disease. Follow her @Peralta_KHRC.

I can feel it in the air! There is roaring excitement combined with fear and anxiety. It’s not just because it’s the NephMadness 2017 finals, it is also because the medical community, the public health community, the general public, and payers are waking up to kidney disease. Kidney medicine is crying out for innovation, and I believe this an exciting time to be a kidney researcher and practitioner. It is fascinating to think that our desire to unravel and solve the observed race/ethnic disparities in CKD has created enthusiasm in four key areas where innovation in kidney care may soon flourish.

First, attempts to explain observations of the astounding race/ethnic disparities observed in kidney disease progression have led to one of the most important discoveries in nephrology, the association of variants in the APOL1 gene and kidney disease progression. A recent must-read paper in Nature Medicine by Beckerman et al is on the successful creation of a mouse model with podocyte-specific inducible expression of the APOL1 alleles. They show that the variants known to pose higher risk for ESKD in humans cause kidney disease in mice. This is a transformative paper in the field as it will open up the possibility of unraveling the mechanisms by which APOL1 variants cause kidney disease and, therefore, test targeted therapies. For young minds interested in genetics and precision medicine, renal medicine needs you!

Second, as excited as I am about APOL1, we cannot discount data which show that race/ethnic differences in CKD outcomes may also be driven by differences in control of risk factors and social determinants of health. Grams et al and our group showed that there is large variability in the renal function trajectories of persons with APOL1 high-risk alleles, particularly among those without established CKD, and not all persons with these high-risk variants develop CKD. Large differences remain in rates of renal function decline between Whites vs. African Americans without the high-risk variants, though less pronounced than those observed among persons with high risk variants. Poverty, lack of access to care, food deserts, residence in disadvantaged neighborhoods, lack of awareness of CKD by physicians and patients, lack of education on ESKD treatment and modality choice, all coupled with poor risk factor control, are key determinants of the adverse outcomes observed among patients with CKD. These data call for the investigation of optimized system approaches to reduce disparities in kidney care. Investment in learning health care systems with a focus on CKD will be important. In fact, the NIDDK has promoted research to understand how to leverage technology and electronic health records to improve care of persons with CKD. Systems that can improve the transition from CKD to ESKD may prove cost-effective. Excited young professionals who want to make a difference and understand how to leverage organizational behavior expertise, business tools, system redesign, technology and computer science skills to help patients with CKD will find a welcoming field!

Third, the heightened awareness by the medical community of the high cost and burden of CKD prompted consideration by the United States Preventive Services Task Force to highlight the absence of evidence of one key question: Should we screen for kidney disease in the US? Confusion over this question has generated great interest in studies to investigate whether early detection of CKD followed by intensive treatment can reduce adverse events associated with CKD. Health services researchers, epidemiologists, clinical trialists, and public health professionals will find a thriving and vibrant myriad of research opportunities in preventive nephrology.

Fourth (and finally only for this commentary), the need to focus on prevention and early detection has launched great interest in the investigation of new testing strategies and biomarkers that can detect kidney injury before CKD is established or advanced. NIDDK continues strong support for the biomarker consortium, and there is great interest in the application of “-omics” to detect and evaluate markers of kidney diseases. Early detection of disease with targeted biomarkers, coupled with genetic information, may hold promise in the era of precision medicine. Biomarkers that prove promising may vary by race/ethnicity, and broad representation of diverse communities is very important as these studies move forward.

If you are passionate about solving race/ethnic disparities in CKD care, let’s get to work! You can learn more at the Kidney Health Research Collaborative at UCSF and the San Francisco VA, which is dedicated to improving kidney care through research.

Read more about Genes in ESKD Disparity in the Disparities in Nephrology region.

– Guest Post written by Carmen A. Peralta (@Peralta_KHRC)

As with all content on the AJKD Blog, the opinions expressed are those of the author of each post, and are not necessarily shared or endorsed by the AJKD Blog, AJKD, the National Kidney Foundation, Elsevier, or any other entity unless explicitly stated.

Current Standings | NephMadness 2017 | #NephMadness | @NephMadness 

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