Genetic testing for renal diseases is changing lives with critical information for patients and families.
Lisa Bonebrake
Executive Director, Alport Syndrome Foundation
Four years ago, when our 21-year-old son stepped forward to become a living kidney donor for his 19-year-old brother, it was a saliva kit test for hundreds of genes associated with kidney diseases that finally put us and his medical team at peace with his decision. The test confirmed he had not inherited my rare genetic kidney disease, the one that had significantly affected our youngest son’s life since infancy. Both definitively ruling out risk and identifying the root cause of symptoms are tremendously empowering for patients and families.
In my role at Alport Syndrome Foundation, I’m in touch daily with newly diagnosed individuals. My story of misdiagnosis for 40+ years, resulting in misdiagnosis for my youngest son, is not uncommon in our patient community. Neither is being denied a request for renal genetic testing by a physician. Other commonalities include guilt for having passed on the disease, and frustration realizing a simple blood, saliva, or cheek swab test could have provided clarity. In addition to concern and anxiety after a confirmed genetic diagnosis, patients often express relief at having unlocked a medical mystery plaguing their family for generations.
A personal journey
Recently, I was honored to be a speaker for a group of professionals in drug development. After sharing my family’s journey with Alport syndrome, I was struck by two different individuals’ reactions. First, an adult nephrologist commented in front of the group that my many missed opportunities for accurate diagnosis helped him realize he had likely misdiagnosed females with Alport syndrome over the years. He vowed to begin using genetic testing in his routine practice. As a patient advocate, this reaction was enormously fulfilling. Second, another nephrologist privately remarked that I was likely in the minority, that certainly most patients would not welcome genetic testing, which could lead to a medical diagnosis for a rare disease with currently no FDA-approved treatments or cure. My response: “If it were your child or grandchild, would you want to know?”
With Alport syndrome, wouldn’t he want to know the genetic type and variant to better understand risk for disease progression, evaluate recommended off-label treatment options, be monitored for associated hearing loss and eye conditions, understand who else in the family was at risk, participate in research and/or clinical trial opportunities, and get connected to the most knowledgeable clinicians and a group of other patient families? Perspective shifts when your own family is affected. He took a moment before acknowledging that, given this situation, he would indeed want to know.
A powerful gift
I encourage clinicians to forego concerns over sharing genetic results with patients. Being provided a scientifically confirmed diagnosis can be a gift leading to clearer treatment plans, better outcomes, and empowered patients. Discovering misdiagnosis years later causes significant mistrust. Appointments with qualified genetic counselors at testing companies to interpret results with patients/caregivers also removes the burden from busy nephrology clinics.
Applying a wide genetic testing panel for inclusion and exclusion criteria for clinical studies in rare kidney disease is critical. Without genetic testing, Alport syndrome is frequently misdiagnosed, as are others of the 150 known genetic causes of chronic kidney disease (CKD). This diagnostic tool also reveals those at risk for more than one kidney disease. Don’t we want to know the accurate diagnosis of individuals being studied in clinical trials? Renal genetic testing is a powerful gift for patients, clinicians, and industry.
The rare kidney space benefits from genetic testing, quality human data collection, content experts, and clinical trial infrastructure. I’m grateful that the Alport Syndrome Foundation is addressing each of these needs to support the industry’s exploration of long-needed therapies or a cure.
