TY - JOUR
T1 - Clinical Genetic Testing for APOL1
T2 - Are we There Yet?
AU - Young, Bessie A.
AU - Fullerton, Stephanie Malia
AU - Wilson, James G.
AU - Cavanaugh, Kerri
AU - Blacksher, Erika
AU - Spigner, Clarence
AU - Himmelfarb, Jonathan
AU - Burke, Wylie
N1 - Publisher Copyright:
© 2017
PY - 2017/11
Y1 - 2017/11
N2 - End-stage renal disease (ESRD) disproportionately affects African Americans, who are two to four times more likely than European Americans to develop ESRD. Two independent variants of the apolipoprotein L1 (APOL1) gene, G1 and G2, have been associated with a 7- to 10-fold greater risk of developing nondiabetic ESRD in African Americans. Those who inherit two risk variants (G1/G1, G2/G2, or G1/G2) are also more likely to develop ESRD at a younger age and to have progression of chronic kidney disease. Currently, it is not known what proportion of persons with high-risk genotypes will develop ESRD in the general population, the exact mechanism of injury for APOL1-related risk, its relation to environmental exposures, or whether patients with comorbid conditions are more likely to develop ESRD. To address the above uncertainties, research that includes assessment of APOL1 status is needed before guidelines for general testing can be endorsed. Currently, APOL1 testing has been proposed as part of kidney transplant protocols both for living donors and recipients. However, because of uncertainties regarding the clinical implications of APOL1 variants, testing could generate confusion, anxiety, or stigma. Multiple forms of evidence, including the views of community members, are needed to support responsible approaches to providing information about APOL1 status as part of clinical care or in population screening. Informed consent with subsequent counseling regarding the risks and benefits of APOL1 testing should be considered for patients at high risk.
AB - End-stage renal disease (ESRD) disproportionately affects African Americans, who are two to four times more likely than European Americans to develop ESRD. Two independent variants of the apolipoprotein L1 (APOL1) gene, G1 and G2, have been associated with a 7- to 10-fold greater risk of developing nondiabetic ESRD in African Americans. Those who inherit two risk variants (G1/G1, G2/G2, or G1/G2) are also more likely to develop ESRD at a younger age and to have progression of chronic kidney disease. Currently, it is not known what proportion of persons with high-risk genotypes will develop ESRD in the general population, the exact mechanism of injury for APOL1-related risk, its relation to environmental exposures, or whether patients with comorbid conditions are more likely to develop ESRD. To address the above uncertainties, research that includes assessment of APOL1 status is needed before guidelines for general testing can be endorsed. Currently, APOL1 testing has been proposed as part of kidney transplant protocols both for living donors and recipients. However, because of uncertainties regarding the clinical implications of APOL1 variants, testing could generate confusion, anxiety, or stigma. Multiple forms of evidence, including the views of community members, are needed to support responsible approaches to providing information about APOL1 status as part of clinical care or in population screening. Informed consent with subsequent counseling regarding the risks and benefits of APOL1 testing should be considered for patients at high risk.
KW - African Americans
KW - APOL1
KW - apolipoprotein L1
KW - Genetic testing
KW - kidney disease
UR - http://www.scopus.com/inward/record.url?scp=85032987042&partnerID=8YFLogxK
U2 - 10.1016/j.semnephrol.2017.07.009
DO - 10.1016/j.semnephrol.2017.07.009
M3 - Review article
C2 - 29110763
AN - SCOPUS:85032987042
SN - 0270-9295
VL - 37
SP - 552
EP - 557
JO - Seminars in Nephrology
JF - Seminars in Nephrology
IS - 6
ER -