In the United States, 37 million people suffer from chronic kidney disease, with 10% of adults and 70% of children affected by genetic causes. Despite advancements in genetic testing and a growing understanding of the genetic factors contributing to kidney diseases, genetic testing in nephrology lags behind other medical specialties.

To address this gap, we will explore the key insights and recommendations outlined in the National Kidney Foundation Working Group’s comprehensive consensus statement, “Advancing Genetic Testing in Kidney Diseases.” The Working Group has identified 56 recommendations, although it is important to note that this list is not exhaustive. For a complete list of recommendations, please refer to the summary provided here or access the full consensus document here.

Let us now delve into the important findings and recommendations put forth by the National Kidney Foundation Working Group.

Key Takeaways and Recommendations

The report from the National Kidney Foundation Working Group on advancing genetic testing in kidney diseases emphasizes the growing importance of genetic insights in the diagnosis and management of renal conditions. Key points include:

  • Who Should Initiate Testing?
    • The consensus reached by the Working Group was that nephrologists should take the lead in initiating the genetic testing process for patients. Nephrologists are best suited to identify individuals who may benefit from genetic testing, explain the rationale to both the patient and their family members, and provide follow-up care for interpreting test results. In cases where further guidance is needed, consultation with a clinical geneticist or genetic counselor is recommended.
  • Testing At-risk Individuals
    • The Working Group strongly supports the use of genetic testing for all types of kidney diseases when a genetic cause is suspected following a thorough clinical evaluation.
    • When considering genetic testing for at-risk individuals, there are two main scenarios to consider: cascade testing to identify family members at risk of inheriting a genetic condition and testing potential kidney donors who may or may not have a family history of kidney disease. It is recommended that a genetic diagnosis be established in a family member before proceeding with genetic testing for at-risk individuals whenever possible.
  • Choosing a Genetic Test
    • In terms of selecting a genetic test, the Working Group suggests that the choice of testing strategy should align with the testing goals, the urgency of reaching a genetic diagnosis, and the complexity of the clinical presentation. For individuals with a known genetic disease in their family, testing for the specific genetic variant causing the disease is recommended due to its high specificity and sensitivity. In cases where there is a strong suspicion of a specific monogenic disease, targeted gene or variant testing is appropriate.
  • Genes and Variants Associated With Clinical Kidney Diseases
    • The Working Group recognizes the importance of accurately classifying genetic variants for the diagnosis and management of patients with monogenic kidney disease. While guidelines from the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) exist, there are still significant knowledge gaps in understanding the natural history of monogenic disorders.
    • To address these gaps, the Working Group recommends the development of best practice guidelines for genetic testing in monogenic kidney disease. These guidelines will be particularly beneficial for clinical laboratories lacking expertise in genetic kidney diseases.
  • Addressing Knowledge Gaps
    • The Working Group discussed the need to enhance the knowledge of genetic testing among nephrologists and improve their access to experts in kidney genetic diseases. A challenge identified was the limited number of experts in kidney disease genetics in the United States and other countries. Therefore, supporting training and continuing education in kidney genomics is crucial for the successful integration of genetic testing into the clinical care of patients with kidney diseases.
  • Education and Training
    • It is essential to educate healthcare providers about genetic testing and its implications in order to effectively counsel patients. Collaborative efforts among relevant stakeholders should be made to develop resources to support this education. Furthermore, it is essential to educate payers and government agencies to establish a framework for the successful implementation of widespread genetic testing in patients with kidney disease.

The working group believes that advancing genetic testing will ultimately enhance patient care in kidney diseases, leading to improved health outcomes. We appreciate your participation in our Guidelines Spotlight on genetic testing. Your thoughts and feedback are valuable to us as we continue to provide insightful information in our future spotlights.

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