The Art and Science of Genetic Counseling in Nephrology

肾脏病遗传咨询的艺术与科学

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Abstract

The recognition that up to 10% of individuals with kidney diseases might obtain a genetic diagnosis has led to genetic testing (GT) becoming a critical component of nephrology practice. Genetic counselors have expertise in providing genomic services, which include genetic counseling and testing. They play a crucial role by helping patients estimate their genetic risks, understand the effect of results, and coordinate follow-up care. Nephrologists are in a pivotal position to offer genomic services directly to their patients or to refer them to genetic counseling before or after GT. Nephrologists should therefore be able to identify patients who would benefit most from these services. To effectively refer patients, nephrologists should be able to explain the genetic counseling process and its relevance to the patient. This review aims to help build a collaborative relationship between nephrologists and genetic counselors. It introduces and expands upon the topics genetic counselors cover during genetic counseling sessions, including how they support patients in understanding the implications of genetic findings, decision making related to GT, and the psychosocial aspects of living with a genetic diagnosis. By integrating genetic counseling into nephrology, patients with kidney diseases can receive comprehensive care tailored to their genetic and clinical needs.

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