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Diagnosis of AMKD requires a genetic test

A definitive diagnosis of APOL1-mediated kidney disease requires a genetic test for the presence of 2 APOL1 risk variants.1-4 There are different types of tests for APOL1 today, such as single-gene tests5 and panels that include APOL1.6 Only the presence of 2 APOL1 risk variants is a definitive diagnosis of AMKD.1-4
When testing, think broadly about African ancestry, which can refer to a diverse group of people. In the US, APOL1 risk variants may be present in people who self-identify as Black, African American, African, Afro-Caribbean, and/or Latino/Latina.7-11

IMPORTANCE OF AN AMKD DIAGNOSIS

While there are currently no approved treatment options for AMKD, a definitive diagnosis can better inform patient management in several ways:
    PROVIDE A CLEARER PROGNOSIS

    AMKD patients progress to kidney failure faster than other kidney disease patients.12 Helping your AMKD patients understand their prognosis may make them more likely to take steps that help preserve kidney function, and more likely to plan in general. You can also provide more frequent monitoring given their elevated risk of kidney failure.12

    GUIDE TREATMENT DECISIONS

    Standard of Care for CKD is the only available option to manage those diagnosed with AMKD. Sometimes patients are more likely to be resistant to steroid treatment, so an AMKD diagnosis may help avoid treatment that is not effective.13,14

    OPEN UP CLINICAL TRIAL OPTIONS

    Knowing your patients’ APOL1 status may open up the possibility of clinical trial participation for those who are eligible.1 Be sure to visit www.ClinicalTrials.gov for a listing of all available clinical trials.

    EMPOWER PATIENTS AND FAMILIES WITH KNOWLEDGE

    An AMKD diagnosis may help reassure patients that they are not to blame for their disease, motivate them to live healthier lifestyles, and allow them to apply their knowledge (for example in family planning).1 However, results must be communicated clearly and effectively to help patients feel empowered. Otherwise, they may feel fear, anxiety, and confusion.1 Awareness of genetic disease in one family member may also enable other family members with kidney disease to seek their own AMKD diagnosis.1

    There are multiple diagnostic companies that can administer tests and genetic counseling to help inform care for your patients. Test your kidney patients of African ancestry for APOL1 today.

     

    Interested in a
    no-cost APOL1 genetic test for eligible* patients?

     

     

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    *APOL1 testing may be available at no cost to patients who meet the following criteria: 1. African ancestry, 2. declined kidney function (CKD stages 1-4), 3. absence of diabetes, 4. no history of dialysis or kidney transplantation.

    Geographic limitations may apply. Additional terms and conditions apply. This program is subject to change or discontinuation without notice.

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    References: 1. Freedman BI, Burke W, Divers J, et al. Diagnosis, education, and care of patients with APOL1-associated nephropathy: a Delphi consensus and systematic review. J Am Soc Nephrol. 2021;32(7):1765-1778. doi:10.1681/ASN.2020101399 2. Freedman BI, Kopp JB, Sampson MG, Susztak K. APOL1 at ten years: progress and next steps. Kidney Int. 2021;99(6):1296-1302. doi:10.1016/j.kint.2021.03.013 3. Peralta CA, Bibbins-Domingo K, Vittinghoff E, et al. APOL1 genotype and race differences in incident albuminuria and renal function decline. J Am Soc Nephrol. 2016;27(3):887-893. doi:10.1681/ASN.2015020124 4. Rosenberg AZ, Kopp JB. Focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2017;12(3):502-517. doi:10.2215/CJN.05960616 5. Franceschini N, Frick A, Kopp JB. Genetic testing in clinical settings. Am J Kidney Dis. 2018;72(4):569-581. doi:10.1053/j.ajkd.2018.02.351 6. Thomas CP, Mansilla MA, Sompallae R, et al. Screening of living kidney donors for genetic diseases using a comprehensive genetic testing strategy. Am J Transplant. 2017;17(2):401-410. doi:10.1111/ajt.13970 7. Duran CE, Ramírez A, Posada JG, et al. Prevalence of APOL1 risk variants in afro-descendant patients with chronic kidney disease in a Latin American country. Int J Nephrol. 2019;2019:7076326. doi:10.1155/2019/7076326 8. Friedman DJ, Pollak MR. APOL1 nephropathy: from genetics to clinical applications. Clin J Am Soc Nephrol. 2021;16(2):294-303. doi:10.2215/CJN.15161219 9. Riella C, Siemens TA, Wang M, et al. APOL1-associated kidney disease in Brazil. Kidney Int Rep. 2019;4(7):923-929. doi:10.1016/j.ekir.2019.03.006 10. Kopp JB, Winkler CA, Zhao X, et al. Clinical features and histology of apolipoprotein L1-associated nephropathy in the FSGS clinical trial. J Am Soc Nephrol. 2015;26(6):1443-1448. doi:10.1681/ASN.2013111242 11. Rosset S, Tzur S, Behar DM, Wasser WG, Skorecki K. The population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus. Nat Rev Nephrol. 2011;7(6):313-326. doi:10.1038/nrneph.2011.52 12. Parsa A, Kao WHL, Xie D, et al. APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013;369(23):2183-2196. doi:10.1056/NEJMoa1310345 13. Gribouval O, Boyer O, Knebelmann B, et al. APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries. Nephrol Dial Transplant. 2019;34(11):1885-1893. doi:10.1093/ndt/gfy176 14. Köttgen A, Cornec-Le Gall E, Halbritter J, et al. Genetics in chronic kidney disease: conclusions from a kidney disease: improving global outcomes (KDIGO) controversies conference. Kidney Int. 2022;101(6):1126-1141. doi:10.1016/j.kint.2022.03.019

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