Diagnosis, Education, and Care of Patients with APOL1-Associated Nephropathy: A Delphi Consensus and Systematic Review
Authors: Freedman Barry I. , Burke Wylie , Divers Jasmin , Eberhard Lucy , Gadegbeku Crystal A. , Gbadegesin Rasheed , Hall Michael E. , Jones-Smith Tiffany , Knight Richard , Kopp Jeffrey B. , Kovesdy Csaba P. , Norris Keith C. , Olabisi Opeyemi A. , Roberts Glenda V. , Sedor John R. , Blacksher Erika 
Published: April 2021

Significance Statement

Variants in the APOL1 gene are thought to be important contributors to a disparity in the incidence of ESKD among Black people, which is approximately three-fold higher than among White people. No specific treatment or management protocol for APOL1-associated nephropathy currently exists. Using a Delphi consensus process supported by a systematic literature review, a multidisciplinary group agreed on practical measures for care of patients who may have APOL1-associated nephropathy. The recommendations address three areas: (1) counseling, genotyping, and diagnosis; (2) disease awareness and education; and (3) a future vision for the management of patients with APOL1 high-risk genotypes. These recommendations may help clinicians improve awareness and diagnosis of APOL1-associated nephropathy and by doing so, may provide opportunities to reduce health disparities related to kidney disease.

Background

APOL1 variants contribute to the markedly higher incidence of ESKD in Blacks compared with Whites. Genetic testing for these variants in patients with African ancestry who have nephropathy is uncommon, and no specific treatment or management protocol for APOL1-associated nephropathy currently exists.

Methods

A multidisciplinary, racially diverse group of 14 experts and patient advocates participated in a Delphi consensus process to establish practical guidance for clinicians caring for patients who may have APOL1-associated nephropathy. Consensus group members took part in three anonymous voting rounds to develop consensus statements relating to the following: (1) counseling, genotyping, and diagnosis; (2) disease awareness and education; and (3) a vision for management of APOL1-associated nephropathy in a future when treatment is available. A systematic literature search of the MEDLINE and Embase databases was conducted to identify relevant evidence published from January 1, 2009 to July 14, 2020.

Results

The consensus group agreed on 55 consensus statements covering such topics as demographic and clinical factors that suggest a patient has APOL1-associated nephropathy, as well as key considerations for counseling, testing, and diagnosis in current clinical practice. They achieved consensus on the need to increase awareness among key stakeholders of racial health disparities in kidney disease and of APOL1-associated nephropathy and on features of a successful education program to raise awareness among the patient community. The group also highlighted the unmet need for a specific treatment and agreed on best practice for management of these patients should a treatment become available.

Conclusions

A multidisciplinary group of experts and patient advocates defined consensus-based guidance on the care of patients who may have APOL1-associated nephropathy.