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Clinical Genetic Testing in Kidney Disease and Transplantation: Logistical, Ethical, Legal, and Social Considerations

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Abstract

Purpose of Review

The role of genetics in renal disorders is being increasingly recognized, prompting the need to describe and address barriers to meaningful implementation of genetic testing in clinical care.

Recent Findings

The rapid expansion in accessibility and decreased cost of sequencing technologies has prompted increased identification of monogenic contributors to kidney disease and demonstration of the high yield of genetic testing in renal cohorts. Genetic testing in kidney disease and transplantation offers meaningful applications, including those relating to diagnosis, prognosis, management, and implications for family members and potential living donors. However, clinical implementation raises notable logistical, ethical, legal, and social considerations.

Summary

Chief among barriers and concerns are difficulties in variant interpretation, lack of adequate clinician training and genetic counseling availability, disparities in composition of reference databases, considerations in obtaining informed consent and returning genetic results, and concerns relating to privacy and legal protections. These considerations are not discrete and the complex issues among them overlap considerably, requiring multifaceted and adaptive interventions.

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Abbreviations

ACA:

Affordable Care Act

ACMG:

American College of Medical Genetics and Genomics

ADA:

Americans with Disabilities Act

AMP:

Association for Molecular Pathology

APOLLO:

APOL1 Long-term Kidney Transplantation Outcomes Network

APOL1:

Apolipoprotein L1

CKD:

Chronic kidney disease

ESKD:

End-stage kidney disease

GINA:

Genetic Information Nondiscrimination Act

HIPAA:

Health Insurance Portability and Accountability Act

MPS:

Massively parallel sequencing

RV:

Risk variant

US:

United States

VUS:

Variants of unknown significance

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  1. Department of Population Health, Division of Medical Ethics, NYU Grossman School of Medicine, 227 East 30th Street, Suite 623, New York, NY, 10016, USA

    Tamar Schiff

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Schiff, T. Clinical Genetic Testing in Kidney Disease and Transplantation: Logistical, Ethical, Legal, and Social Considerations. Curr Transpl Rep 10, 159–166 (2023). https://doi.org/10.1007/s40472-023-00418-0

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