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.