Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices

被引:27
作者
Thomas, Christie P. [1 ,2 ,13 ]
Daloul, Reem [3 ]
Lentine, Krista L. [4 ]
Gohh, Reginald [5 ]
Anand, Prince M. [6 ]
Rasouly, Hila Milo [7 ]
Sharfuddin, Asif A. [8 ]
Schlondorff, Johannes S. [9 ]
Rodig, Nancy M. [10 ]
Freese, Margaret E. [1 ]
Garg, Neetika [11 ]
Lee, Brian K. [12 ]
Caliskan, Yasar [4 ]
机构
[1] Univ Iowa Carver Coll Med, Iowa Inst Human Genet, Dept Internal Med, Iowa City, IA USA
[2] VA Med Ctr, Iowa City, IA USA
[3] Allegheny Gen Hosp, Dept Internal Med, Div Nephrol, Pittsburgh, PA USA
[4] St Louis Univ Transplant Ctr, SSM Hlth St Louis Univ Hosp, St Louis, MO USA
[5] Brown Univ, Warren Alpert Med Sch, Dept Med, Providence, RI USA
[6] Med Univ South Carolina, Midcarolinas Transplant Ctr, Lancaster, SC USA
[7] Columbia Univ, Ctr Precis Med & Genom, Dept Med, New York, NY USA
[8] Indiana Univ, Div Nephrol & Transplant, Sch Med, Dept Med, Indianapolis, IN USA
[9] Ohio State Univ, Med Ctr, Dept Internal Med, Columbus, OH USA
[10] Boston Childrens Hosp, Harvard Med Sch, Dept Pediat, Boston, MA USA
[11] Univ Wisconsin, Sch Med & Publ Hlth, Div Nephrol, Dept Med, Madison, WI USA
[12] Univ Texas Austin, Kidney Pancreas Transplant Ctr, Seton Med Ctr, Austin, TX USA
[13] Univ Iowa Carver, Dept Internal Med, Coll Med, Div Nephrol, SE419 GH,200 Hawkins Dr, Iowa City, IA 52242 USA
基金
美国国家卫生研究院;
关键词
genetic disease; Mendelian inheritance; next-generation sequencing; risk alleles; asymptomatic testing; living donor; informed choice; STAGE RENAL-DISEASE; HEMOLYTIC-UREMIC SYNDROME; NATURAL-HISTORY; RISK; VARIANTS; MUTATIONS; DIAGNOSIS; ASSOCIATION; EXOME; ESRD;
D O I
10.1016/j.ajt.2023.02.020
中图分类号
R61 [外科手术学];
学科分类号
摘要
The growing accessibility and falling costs of genetic sequencing techniques has expanded the utilization of ge-netic testing in clinical practice. For living kidney donation, genetic evaluation has been increasingly used to identify genetic kidney disease in potential candidates, especially in those of younger ages. However, genetic testing on asymptomatic living kidney donors remains fraught with many challenges and uncertainties. Not all transplant practitioners are aware of the limitations of genetic testing, are comfortable with selecting testing methods, comprehending test results, or providing counsel, and many do not have access to a renal genetic counselor or a clinical geneticist. Although genetic testing can be a valuable tool in living kidney donor evalu-ation, its overall benefit in donor evaluation has not been demonstrated and it can also lead to confusion, inappropriate donor exclusion, or misleading reassurance. Until more published data become available, this practice resource should provide guidance for centers and transplant practitioners on the responsible use of ge-netic testing in the evaluation of living kidney donor candidates.
引用
收藏
页码:597 / 607
页数:11
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