APOL1 genotyping in kidney transplantation: to do or not to do, that is the question? (contra)
Discussions regarding genetic testing for variants in apolipoprotein L1 (APOL1), a gene located on chromosome 22 whose risk variants are strongly associated with
end-stage kidney disease (ESKD), in the context of kidney transplantation must address
donors (deceased and living) and recipients. In addition, these discussions must occur
in the context of known genetic epidemiology regarding APOL1. Specifically, APOL1 risk variants are only found among individuals of African descent, as these variants
are derived from exposure to African sleeping sickness that is largely confined to
countries along the west coast of Africa.
1
Genovese G.
Friedman D.J.
Ross M.D.
et al.
Association of trypanolytic ApoL1 variants with kidney disease in African Americans.
In other words, not every individual who self identifies as Black or African American
will even be at risk for carrying these genetic variants, and in fact, 87% of African
Americans do not actually carry 2 APOL1 renal risk variants.
2
Foster M.C.
Coresh J.
Fornage M.
et al.
APOL1 variants associate with increased risk of CKD among African Americans.
More important, among the 13% of African Americans who do carry 2 APOL1 renal risk variants, the presence of these variants alone is insufficient to cause
ESKD.
2
Foster M.C.
Coresh J.
Fornage M.
et al.
APOL1 variants associate with increased risk of CKD among African Americans.
We question the rationale for routine testing of all African American donors and
recipients. Those in favor would likely remind us of the Hippocratic Oath—first do no harm—and that it is our duty to assign and avoid such risk. Paternalistic strategies such
as this, although good intentioned, often overlook the broader context of how such
dogmas may eliminate patient autonomy in decision making and even exacerbate existing
disparities. In the following paragraphs, we will lay the foundation for the case
against routine APOL1 testing in kidney transplantation with the hope of encouraging a more balanced approach
to the care of donors and recipients alike.
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