Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic

Genetic Counseling in Kidney Disease: A Perspective

“… 1 , 2 , 3 As genetic testing becomes more commonplace in the nephrology specialty, there is an emerging need for partnership between the clinicians and genetics experts. 4 , 5 , 6 , 7 The clinician needs include help with the interpretation of genetic test results; resources to help facilitate patient discussions about the potential benefits, limitations, and risks of genetic testing; help in communicating test results to patients; and basic educational resources relating to the underlying genetic causes of chronic kidney disease (CKD). 4 Genetic counselors—health care professionals with training and expertise in hereditary conditions, genetic testing, risk assessment, counseling, communication, and education—are ideally suited to address these needs and provide support to the clinicians.…”

“…Genetic testing can provide information on clinical management, prognosis, disease mitigation, transplant decision-making and reproductive planning. 1 , 6 , 7 , 8 , 9 However, there are associated complexities which arise from testing such as diagnostic versus predictive testing (testing at-risk individuals) and variant interpretation. This can lead to a lack of confidence about incorporating genomics into clinical practice.…”

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management

“…In recent years, genetic assessment has played an increasingly important role in the diagnosis and management of chronic kidney disease. 5 , 6 , 7 , 8 For example, a cohort study demonstrated that more than two-thirds of patients with positive genetic testing results received a new diagnosis or a change in diagnosis. 5 Over one-third of these patients experienced a substantial alteration in disease management.…”

“… 5 , 6 , 7 , 8 For example, a cohort study demonstrated that more than two-thirds of patients with positive genetic testing results received a new diagnosis or a change in diagnosis. 5 Over one-third of these patients experienced a substantial alteration in disease management. 5 As genetic testing becomes more accessible to patients with suspected genetic kidney disease, an increasing number of nephrologists are integrating genetic diagnostic tools into their practice.…”

“… 5 Over one-third of these patients experienced a substantial alteration in disease management. 5 As genetic testing becomes more accessible to patients with suspected genetic kidney disease, an increasing number of nephrologists are integrating genetic diagnostic tools into their practice. 5 , 9 However, interpretation of genetic variants identified in these tests, particularly those classified as VUS, remains challenging.…”