Pediatric kidney disease poses unique challenges, as its underlying causes can be complex and multifactorial. In some cases, genetics are a big factor and because of that, genetic testing can be a valuable tool for pediatric nephrologists to utilize to understand disease heredity, development, prognosis, and management.
However, the ability to access genetic counselors by pediatric nephrologists nationwide is unknown. Hilda Fernandez, M.D., a pediatric transplant nephrologist and medical director of the pediatric kidney transplant program at New York-Presbyterian and Columbia, partnered with colleagues, including Hila Milo Rasouly, PhD, and Maya Sabatello, LLB, PhD, from the Center for Precision Medicine and Genomics at Columbia, to conduct a national survey of pediatric nephrologists to understand views about genetic testing in the clinical setting and any barriers they face to accessing genetic testing. The survey was funded by a NIDDK grant.
Below, Dr. Fernandez shares findings from the survey and highlights the potential of genetic testing to improve diagnosis, treatment, and family counseling.
The Role of Genetics in Kidney Disease
Kidney disease encompasses a spectrum of conditions, many with a genetic underpinning. Examples include monogenic disorders like polycystic kidney disease (PKD), Fabry disease, and Alport syndrome, as well as complex traits influenced by multiple genes, such as those associated with APOL1, MYH9, and HNF1B variants.
Recognizing the crucial role genetics play in kidney diseases, we are fortunate to have a close collaboration with skilled genetic counselors at New York-Presbyterian and Columbia that specialize in kidney disease. For example, when evaluating a patient with proteinuria, we follow a methodical, stepwise approach. Initial serologic testing may provide insights into the underlying etiology. If serologic results are inconclusive, a renal biopsy is often performed. However, even with biopsy findings suggestive of rheumatologic diseases or vasculitis, definitive diagnoses can remain elusive.
In such cases, genetic testing becomes a pivotal next step. By analyzing a patient’s genetic profile, we can uncover underlying causes that might otherwise go undetected with traditional diagnostics. This integrated approach—supported by input from our genetic counselors—enables us to better interpret testing results and apply them to treatment decisions.
However, this is not the case at all institutions. So, to further explore the role of genetic testing in clinical practice, we conducted a survey assessing clinician perspectives, barriers to implementation, and opportunities for improvement.
Survey Findings
Our survey results highlight strong support for genetic testing among pediatric nephrologists, with 86% agreeing it is relevant to their current patient population. Despite the support, over half of respondents also reported concerns with test selection (55%), result interpretation (63%), and providing genetic counseling to families (53%). These challenges are compounded by barriers such as cost, limited access to genetic testing and counseling services, and sociolegal implications such as loss of life insurance and social stigma.
Further obstacles include guiding families through the risks and benefits of genetic testing, privacy and confidentiality, lack of treatment and options, and impacts of unexpected secondary findings. Addressing these barriers is essential to fully realizing the potential of genetic testing in improving pediatric nephrology care.
Embracing Genetic Testing in Pediatric Nephrology
To enable the field to integrate genetic testing more widely into clinical practice, several steps need to be taken:
- Expand training on genomic medicine for nephrology trainees and provide continuous medical education for practicing physicians
- Provide support to pediatric nephrologists with test selection and results interpretation
- Develop infrastructure to connect clinicians with genetic counseling, particularly in areas where it is unavailable
- Integrate genetic referrals into existing clinical workflows to streamline patient access
To improve care for our patients, we need to integrate genetic testing more widely across pediatric nephrology. Doing so can help us to avoid unnecessary treatments, provide early intervention for family members at risk, and even assist with transplant planning. By identifying and addressing current barriers and encouraging broader adoption, we can leverage the power of genetic testing to improve outcomes for our patients.
