#NephMadness 2020 The Impact of Genetic Testing on A Person: A Patient Perspective

@KidneyRebel is a patient with ADPKD who wishes to remain anonymous at this time for personal reasons. They are a staunch advocate for progress and innovation in nephrology and regularly engages on #NephTwitter.

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My ultrasound diagnosis of autosomal dominant polycystic kidney disease (ADPKD) in my late 40s was not particularly surprising and it was a huge wake-up call to me. My father had ADPKD and I had been on blood pressure medication for years. With no treatments available, I had avoided a diagnosis for as long as I could and held out hope that I did not have ADPKD. After receiving the diagnosis, I began researching my options and was very disappointed to learn about the state of dialysis technology and came to disagree with the United States Food and Drug Administration (FDA)’s 2013 rejection of Tolvaptan after reading an article by a patient who was at the FDA hearing and the underlying transcript (“In Between the FDA and Pharma, People Wait for Treatments,” Atlantic Magazine, 11/1/2013). Other considerations prevented me from moving to a country that had approved Tolvaptan. Instead, I anxiously waited for FDA approval eight months later, with plans to enter a clinical trial if the FDA again rejected the drug. 

I am a mix of contradictions when it comes to genetic testing. On the one hand, I am a big fan of science and technology, especially in nephrology, and am cheering on those who are developing new ideas and discoveries. I would also very much like to know, through genetic testing, what mutation variant of the PKD gene that I have. If I were facing an inherited kidney disease that would have a significant impact on my health during childhood, such as those described in the accompanying “Genetic Counseling for Cystic Diseases,” I would have wanted my parents to have access to the latest in genetic testing, hopefully on a low-cost basis, so that the best possible medical treatments could be sought out.

On the other hand, I see a number of factors to consider before undergoing genetic testing, as explained in the paragraphs below:

  • Added Stress During Early Life: In the case of my own medical condition, I believe a childhood diagnosis of ADPKD without treatment options likely would have caused me undue stress. Further complicating matters, different variants of ADPKD progress at different rates, from complications early in life to potentially never reaching ESKD, which could either contribute to or alleviate a person’s level of stress. While I have been fortunate not to suffer from depression or other mental health issues because of my diagnosis, I do believe that mental health issues should be carefully considered prior to genetic testing. 
  • Potential Impact on Life Insurance: Insurance issues should also not be taken lightly. A positive genetic test for kidney disease can mean that an individual will face a lifetime of difficulty or much higher expense obtaining life insurance. Many families may not have the foresight or the means to obtain a life insurance policy for a child in advance of a genetic test that could pay meaningful benefits to the child’s family many decades in the future.
  • Cost: I very much want to see the price of genetic testing come down dramatically.  For many families of a person with a potentially significant kidney disease, they probably do not need another large out-of-pocket expense. For myself, it would be nice to be able to get both inexpensive genetic testing and also an MRI so that I can have two estimates of time to ESKD.
  • Earlier Treatment: As treatments for ADPKD have evolved, most notably aggressive blood pressure control and Tolvaptan to slow down progression, some may decide an early diagnosis is best so they do not wait too long before beginning treatment. I certainly respect this approach.

Looking to the future, we also have to ensure that insurance companies do not deny health care coverage for genetic testing, treatments to slow down progression, or make it financially impossible to gain insurance. We also need insurance companies to recognize that developing targeted therapies through the use of genetics is a win-win approach on many levels.  

I would like to see genetic testing and treatment options evolve in a complementary manner leading to significant advances in patient care. Imagine if there were another treatment or two for ADPKD that, when combined with Tolvaptan, meant that ADPKD becomes a manageable chronic disease with an expected time to ESKD that easily exceeds people’s life expectancy. Furthermore, imagine major advances in dialysis technology, not to mention transplantation, so that there is a safe, fast, and efficient backstop in case those measures do not delay progression to the extent needed. With these safety nets in place, the anxiety around genetic testing, even in the very young, could be greatly alleviated and people could ideally have access to life insurance like those with other chronic diseases do today. 

I believe this vision is eminently achievable. If all of us in the #NephTwitter community, from patients to healthcare providers, decided that kidney care would be the most exciting, imaginative, and innovative area of medicine, and were willing to settle for nothing less, we could create kidney care that is unrecognizable from today’s reality.

– Guest Post written by @KidneyRebel


As with all content on the AJKD Blog, the opinions expressed are those of the author of each post, and are not necessarily shared or endorsed by the AJKD Blog, AJKD, the National Kidney Foundation, Elsevier, or any other entity unless explicitly stated.


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