The Power of Precision: Genomics Medicine and the Personalization of Kidney Care


FIGURE 1 | Selected population-based health initiatives with current or planned genomic data linked to electronic health records. First year of enrollment (x-axis) was obtained from personal communication, press releases, recent publications, or biobank websites.

Percent of non-European ancestry participants vs year enrollment started chart

As of 2019, an estimated one million human genomes had been sequenced, and that number is expected to double in the next five years.3 This data, along with the relative trickle of human genetic data that preceded it, has led to new therapeutic classes like PCSK9 and SGLT2 inhibitors and personally tailored cancer immunotherapies. As this data continues to expand, it will power transformational therapies and discoveries across the spectrum of human disease.

Historically, researchers have been reluctant to invest in drug development for fear of adverse effects in patients with compromised renal function. This includes both clinical trial exclusion and lack of direct investment in renal disease research. As illustration, only 2.6 percent of the nearly 186,000 clinical trials conducted from 2000 to 2015 were for genitourinary diseases, a category that includes reproductive, renal, and other conditions (Figure 2).4 Kidney patients have largely been left behind in reaping the benefits of new genomic discoveries as well. This exclusion does not represent a lack of promise. There is evidence of genetic association with multiple types of kidney disease— findings that could lead to transformation of our mechanistic understanding and the therapeutic landscape in nephrology.

FIGURE 2 | Summary of 185,994 unique trials spanning 2000 to 2015 with kidney diseases represented as a portion of the 2.6 percent genitourinary category

Summary of 185,994 unique trials spanning 2000 to 2015 with kidney diseases represented as a portion of the 2.6 percent genitourinary category

Among the reasons for nephrology’s therapeutic innovation gap are expense and probability of success. With the costs of drug development estimated at more than $2.5 billion and steadily rising, it is not surprising that researchers are looking to take fewer risks.5 Confounding progress in the renal and dialysis space are the higher rates of negative outcomes and side effects for kidney patients in clinical trials.6,7 Kidney patients suffer from systemic disease and often present with one or more comorbid conditions. Previous trials have experienced slow patient enrollment. These challenges combined with a lack of mechanistic and genetic insights into underlying processes have made nephrology a relatively unattractive discipline for research activities. This has left kidney patients and caregivers with modest improvements in therapeutic options and few medical alternatives for slowing disease progression.


To understand how to attract research to the kidney space, Frenova engaged with academic, medical, and industry researchers to learn what was missing. The identified gap was a kidney-focused data registry composed of genomic and clinical data (Figure 3).

FIGURE 3 | Licensed registry and biorepository for kidney disease research that combines clinical and genomic data for over 100,000 participants

Licensed registry and biorepository for kidney disease research that combines clinical and genomic data for over 100,000 participants

Clear and simple associations can be made with relatively small datasets, with powerful discoveries in other pathologies evolving from cohorts of 1,000 participants or fewer.8 In order to isolate the primary kidney disease driver from the backdrop of multiple comorbidities and identify small and complex risk factors, much larger sample numbers are required.9 Current study/database populations are not sufficiently powered to validate rare disease phenotypes/genotypes or identify complex polygenic associations. Gleaning mechanistic insights from rare mutations in common kidney-associated genes and identifying subgroup-impacts may necessitate large sample sets (Figure 4).10

Figure 4 | Mutations in the APOL1 gene are associated with numerous kidney-related phenotypes**

Mutations in the APOL1 gene - risk vs age in years chart

The Frenova registry will be a sustainable and comprehensive tool for kidney-focused research that will bring patients, their families, patient advocate groups, physicians, and researchers together for the common cause of improving outcomes for those affected by kidney disease. By combining clinical and genetic sequencing data from ethnically and pathologically diverse participants, genomic and phenotypic research will facilitate understanding of the determinants of kidney disease and associated comorbidities.

Frenova is engaging in research partnerships that will use the registry to understand the underlying mechanisms of kidney disease and injury; identify molecular pathways and targets of interest for the development of novel therapies and diagnostics; explore clinical interventions that will improve quality, safety, and efficiency in clinical care; and stimulate more scientific inquiry into kidney-related illness.


It is critical for patients and community members to participate in scientific kidney disease research, as it empowers and engages patients to work in lockstep with researchers and healthcare workers to improve outcomes and drive innovation in renal disease. Patient advisory groups will inform the registry, Fresenius Medical Care, and the kidney care community at large, as well as promote interest and engagement in advancing kidney disease research through advocacy activities.

Creating a patient-focused research program empowers patients to be active participants in fighting kidney disease. The conversation about improving clinical trials for participants too often focuses on how to drive increased recruitment.11 Traditional research models have often had low recruitment and retention rates and have missed opportunities for education and engagement. In the medical and research communities, attitudes about patient experience and quality of life are changing—but not fast enough.

The Frenova registry will create a participant portal and provide routine communication about research studies and clinical trials. It will also provide an opportunity to consent for follow-up studies, which may provide access to novel clinical therapies. This program is an opportunity to make patients and the broader renal community educated and activated partners in research and in their own health. Through a patient advisory committee, the sharing of patient experiences, and communication with research program organizers, research participants will have direct input into design and implementation with concrete feedback and progress communication (Figure 5).

FIGURE 5 |Core principles of Frenova genomics and precision medicine program

Cycle of integrity, patient focus and sustainabillity graphic

Frenova is forming partnerships between patients, providers, and researchers, powered by Fresenius Medical Care’s global footprint and vertical integration. When barriers that have left patients behind in the modern medical era are eliminated, the future of kidney disease will be transformed through genomics and precision medicine.

Meet The Experts


Kurt Mussina head shot

President, Frenova Renal Research; Senior Vice President, Fresenius Medical Care


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