Welcome to KD GO Conversations in Nephrology. This episode, titled Screening and Early Detection Patient and Clinician Perspectives is provided by KD GO and supported by Vertex. Here's your host, Doctor Kirk Campbell. Hello and welcome to KD Go Conversations in Nephrology. I'm Doctor Kirk Campbell, Chief of the Renal Division at the University of Pennsylvania. Joining me to discuss April 1 screening and early detection are two incredibly knowledgeable guests.
We'll have the patient and clinician perspectives from Mr. Joshua Albright and Doctor Titilayo Illori. Joshua Albright is a kidney health advocate, international public speaker and student at Georgia State University who's living with April One kidney disease. He's an advocate for Nest Care Kidney International and brand ambassador for the American Kidney Fund. Josh has received numerous awards for his impact on kidney
health. Doctor Laurie is an assistant professor of medicine, nephrologist, and clinical researcher at Boston Medical Center at Boston University. She's focused on epidemiology and modifiers of April 1 kidney disease and the cure of patients with April One kidney disease. Welcome to you both. Thank you very much, Kirk. Thank you Kirk for introducing me. Appreciate you guys for having us. Great, great. So let's begin on discussion with the general awareness around the significant public
health issue. What should patients, families and the wider community know about a PO1 kidney disease? Josh, let's start with you. I think first thing to mention is that I feel like it's just something that not a lot of people even understand what APO one is. Before I was diagnosed I was not familiar with it at all. No one in my entire family was also familiar with the term as
well. Or even be exposed to the information of how so many African American people or people W African descent are susceptible to contracting APO when they're having the genetic variation. And I think it answers a lot of questions that we see in the disparities with the kidney disease issues. But it's just not a lot of information for people to understand as to why sometimes these kidney diseases and these health issues are more prominent in our communities.
And I think there's more common conversations should be normalized so that there's more information and understanding between people who are more likely to diagnose APO one kidney disease. Yeah, great perspective. And after Lori? Thanks for that question, Kirk. So a paper by one of our colleagues, Dr. MU KJ really encapsulates the answer. And here, community members were interviewed about APOL One. And the title of the paper is really the answer to your question.
They said, why are you just now telling us about this? And that reaction really captures what I've seen clinically in my research and in community engagement, discussing with patients and with community members. Their response is often the same. Why don't people affected know about this disease? Why are we not talking about this at family dinners, at Thanksgiving and in everyday conversation? Why isn't this being passed down for Matrix and Patriots of our
families? People want to know how do I get a Pol One disease? How can I pass it on to my offspring? How can I be tested and what can I do if I have this disease? Yeah. Thanks so much for that. So we know that access to testing is quite variable around the world. Doctor Laurie, what is the overall availability for testing in low resource and high resource settings? So when it comes to APOL 1, testing, access really depends
on where you are. In high resource setting, testing has become more available, but it's still not routine. It often depends on whether your doctor knows about it, whether your hospital offers it, or if your insurance will cover it. But in your resource setting, the picture is very different. There is little or no access to genetic testing outside of research studies or charity programs. And even though the burden of disease is high in this community, so many people do not
have access to testing. And This is why testing matters, because the people most at risk may never have the opportunity to be tested. We need to think of not just making testing available or making sure that the right support and follow up care is in place so that the results are meaningful and fair. If you're just tuning in, you're listening to the KDO podcast on April 1, screening and early detection, Patient and Clinician perspectives.
I'm Doctor Kurt Campbell. I'm speaking with Doctor Titi Lori and Mr. Joshua Albright. So who needs to be tested and what is the optimal time for testing Tiller? So there's no gold standard for who should be tested for April 1 kidney disease. But there's always a suggestion for testing. And interestingly, we really do need to consider pros and cons of testing.
I think one big challenge is that right now testing may not have any clear actionable management steps, and therein lies the big challenge of testing. And so although there's insufficient evidence for testing at the population level, testing has been associated with greater blood pressure reduction, increased screening for kidney disease and self reported behavior changes. We may want to consider testing in the following scenarios as clinician. One where counselling is
available. 2 when the suspected risk of APL 1 variance in an individual with kidney disease, if it's a potential living donor, if it's a person with relatives with APL. 1 High risk if where chronic kidney disease care and screening are available, where testing may be able to alleviate anxiety and help in reproduction decision making and in at risk populations, individuals of African ancestry or in a highly
admixed population. And finally, of course, if there's no harm in testing the individual. Thanks, Doctor. Laurie, can you also comment on using a Pole 1 testing for precision based care delivery and risk stratification? That's a fantastic question Kirk April 1, testing is emerging as a powerful tool for personalized kidney care, especially in people of recent African ancestry who carry 2 copies or the high risk variant.
It helps identify those at greater risk for rapidly progressive non diabetic kidney disease and will allow for more tailored monitoring, treatment and counselling. In precision medicine, knowing a patient's APL One status can help us refine prognosis, guide earlier intervention and informed decisions around kidney transplantation. For donors, APL One genotype can predict grassed outcomes. It can help optimize donor selection and post transplant
management. It also supports risk stratification, family counselling and lifestyle planning for those at higher risk. That said, testing isn't yet routine. The challenges include limited clinician awareness, variable availability and the need for genetic counselling to help patients interpret results. We know there are lots of emerging treatments targeting APL one function and this highlight the growing potential for genotype driven care.
In short, testing is important. It holds great promise for delivering personalized, risk informed kidney care, but it's got to be paired with counseling, with thoughtful implementation, and with equitable access. Yeah, that's great. Let's talk a bit about the psychological impact of genetic testing and what's needed for holistic care of patients with APO one kidney disease. Josh, can you tell us a little bit about your experience
getting tested? What concerns did you initially have about getting April 1 genetic test? And so for me personally, it was actually no concerns jumping into being APO 1 tested because being genetic testing actually opened up the opportunity for me to be placed in a clinical trial. So there was a lot of opinions from both sides when I sat down with my family about, you know, maybe the pros and cons from potentially being in a clinical
trial. But with genetic testing, I think it was necessary for me to move forward, to weigh my options with my treatment and with my care. When I first heard about FPO 1 and got tested, my initial reaction was, you know, the shock and the fear. I live in a household with seven other people. We're a family of eight. So it was just a lot of questions running through my mind about my future, my family, my life goals. And I just remember wondering, how would this affect my opportunities?
How would this affect my life? Will it limit me in a certain way, will limit my family in a certain way? And for me and so many other patients, it wasn't just a medical thing. It's also very mental. It kind of weighs on you heavily emotionally. The sense of security that you kind of had makeshift because you have this thought now that's placed on you that you have to worry about. And me being diagnosed that just turning 18 years old, it was just an extreme adjustment.
Days where the anxiety was very unknown. It was just tough. Just kind of placing that new stigma on yourself and your family, knowing that she could be at an increased risk for something like FSCS or another kidney disease. Thanks so much for that, Josh. And what support did you get when the results were provided just in terms of family genetic counseling? Was there a little explanation of what the results meant for
you and your treatment? Options For me, I think what made the difference was my support system. My family obviously was there, but as well as my doctor in the care team. We took time to explain things, to go step by step in a way that I can understand it. As a 18 year old being recently diagnosed, it's probably tough to understand all what's going on, but they did a great job at just explaining it to me and being there for me.
And like I said, I was able to be placed in a clinical trial and just a layer of support that I was able to get, not only mentally, but physically, just checking on me and explaining each step to be giving me the reassures. And I felt like I was contributing to something that could potentially help myself, maybe help my family or help others in the future. Just for more research on APO one. Yeah, no, thanks so much. And Doctor Laurie, can you share your perspective?
So I think as Josh has really told us today, there is a psychological impact of getting genetic testing, and this is real for patients and their families. Many people worry about discrimination if someone carries a risk variance that could limit their chances of getting a kidney transplant. Especially for individuals of African ancestry, there's this real concern about equity and fairness, and that's why the decision around testing has to be guided by both evidence and equity.
Another fair people raise is about insurance. If insurers had access to the genetic information, whether for people with kidney disease or those who are completely healthy, will that mean higher premiums or new barriers to coverage? And so no, it's not just about the science of the test. It's also about the support provided for patients. Genetic counselors and psychologists are critical in helping individuals that get this result and manage the anxiety that may come with them.
So before we close, are there any final messages either of you would like to leave with your listeners? We'll start with Doctor Laurie. As we wrap up, I want to leave us with this charge. Let's spread awareness about APOL 1K disease, especially among those at risk. Testing matters because the research is still evolving and there are many more important question that we need to answer. But just as important at the science is the equity.
We need to make sure that people who choose to be tested are supported, results are handled fairly, and no one is left behind. And finally, community engagement is key. We need participation in clinical trials and studies, and just as important, we need to share those results back with the community most impacted. This is how we build trust, advanced knowledge, and make a difference together. In summary, let's spread
awareness. Let's ensure equity in testing, and let's bring research results back to the community's most at risk. Thanks so much, Sandosh. My final message is really about trust in the parts of genetic testing. When I first went through this, I had to learn to trust my doctor in the care team I was walking with me. The trust made it possible for me to accept my diagnosis, get into a clinical child, and believe that there is still hope for my future.
Genetic testing played a huge role in my story. It didn't just give me answers, it placed me in the study that I'm in today. And I truly believe that is a major part of saving my life. But even more importantly, genetic testing also leads to my brother being tested and diagnosed, and without that, he may not have caught his kidney disease early. So for me, genetic testing isn't just about risk, it's about giving families a chance to act, prepare, and support one another.
So I truly believe if we keep pushing for awareness, access and support around APO 1 testing, I hope more patients have stories that are similar to me and my brothers and my family. Yeah, such an important perspective. I'd like to thank my guests, Dr. Titi Laurie and Mr. Joshua Albright for joining me. It was great having you both on the podcast. Thank you for having us. Thank you so much for having us.
I'm Doctor Kirk Campbell, To access this and other episodes in our series, visit kligo.org/podcast. Thanks for listening.