Genetic testing benefits patients by providing earlier, more accurate diagnoses, and tailored, lifesaving treatment
Kidney disease often progresses silently with few symptoms until considerable damage has occurred. For physicians and health systems, this creates enormous challenges in detecting and managing the disease early. Now, advances in genetic testing are offering a new window into understanding why kidney disease develops, and how to stop it before it leads to irreversible damage.
According to the National Institute of Health, chronic kidney disease (CKD) is a growing global health challenge, affecting more than 800 million people worldwide. More than 37 million Americans have CKD (about one in seven adults), but up to 90% of people with CKD do not know they have the disease until it is advanced. If left untreated, CKD can lead to end-stage renal disease, requiring dialysis or kidney transplantation. A variety of diseases can cause CKD, making it difficult to diagnose using traditional methods.
The National Kidney Foundation (NKF) and Kidney Disease Improving Global Outcomes (KDIGO) recently recommended genetic testing for patients who have a CKD diagnosis, as well as those who may have health conditions or a family history that could lead to kidney disease. Test results can help nephrologists diagnose the disease earlier and personalize treatment plans with genetic-specific therapies and clinical trials.
TGH Cancer Institute | Cancer Care of South Florida (CCSF) in Palm Beach Gardens offers genetic testing for kidney disease through its Hereditary Cancer Prevention & Risk Program.
Catherine C. Marinak, APRN, MSN, AOCNP, directs the program and has been collaborating with nephrologists Dr. Imtiaz Ather and Dr. Kerim Oncu from TGH Advanced Kidney Care, running genetic tests to help in diagnosing and treating patients more effectively.
“We’re seeing a real paradigm shift,” said Marinak, who is board certified in oncology, and has completed advanced training at Fox Chase Cancer Center and Harvard Medical School. “Genetic testing allows us to identify kidney disease much earlier and with far greater precision. It gives patients and families answers — sometimes for the first time — and helps us tailor care so that every decision is evidence based.”
Dr. Ather added that this collaboration between nephrology and genetics is helping uncover hidden hereditary patterns that can change the course of care for entire families.
Genetic testing analyzes a patient’s DNA to detect mutations or variants that may cause or contribute to kidney disease. These insights allow nephrologists to move beyond treating symptoms and instead address the disease’s root cause. For example, identifying a mutation in the COL4A gene can confirm a diagnosis of Alport syndrome and prevent the use of steroids that would otherwise be ineffective. As the science advances, more genetic-based therapies are emerging to match these findings.
Specific benefits of genetic testing for patients with CKD include:
- Facilitates and confirms a diagnosis
- May shorten or help avoid a prolonged diagnostic journey
- May aid in establishing a prognosis
- A clear diagnosis benefits the patient psychologically.
- Helps avoid invasive, risky diagnostic procedures
- Helps avoid ineffective, unnecessary and potentially harmful therapies
- Can direct personalized treatment if available
- Facilitates and clarifies overall disease treatment and management
- Helps to identify appropriate kidney transplant recipients
- Prevents kidney donation by those with genetic kidney disease
- Facilitates identification of, and enrollment in, clinical trials
- Supports family planning
- Guides surveillance and detection of non-renal abnormalities tied to genetic disorders
- Helps with identifying at-risk family members
- Advances understanding of etiology of kidney diseases
As genetic testing becomes a standard component of kidney disease evaluation, collaboration among specialists will be key. Marinak’s work with TGH Advanced Kidney Care physicians represents a model for integrating genetics into a community-based nephrology practice. The collaboration also demonstrates how providers within Tampa General’s growing network in Palm Beach and Martin counties rely on one another to deliver innovative, game-changing treatments backed by the expertise of one of Florida’s leading academic health systems. Additionally, Tampa General’s team of experts provides residents with comprehensive preventative care, advanced diagnostics, and access to academic medicine and complex care when patients need it most.
Providers interested in learning more or referring patients for genetic testing can contact TGH Cancer Institute | CCSF Hereditary Cancer Prevention & Risk Program in Palm Beach Gardens at (561) 221-2660 or visit CancerCenterofSouthFlorida.com.
