Pfizer Presents: The Rare-Disease Patient’s Journey to Diagnosis | The Atlantic Festival 2022

[Music] now for a session produced by our underwriter Pfizer a cycle of uncertainty the rare disease patient's journey to diagnosis please welcome sunid Varma Global oncology and U.S president of Pfizer hello hi everyone my name is sunit Varma and I'm currently as you heard the president of Pfizer oncology but in the Years preceding that because I was just named on September 1st I was the president of Pfizer's rare diseases and for me that was not just a job it was a purpose and it was a very personal one at that the reason being is that my daughter Asha was born with a rare genetic anomaly and between my wife's hospitalization maternal hospitalization her time in the NICU it was five months at Sunnybrook Hospital in Toronto in 2010. I'll tell you more about Ash in a moment but I'd like to talk about rare diseases first and the challenges that millions of people suffering with rare diseases face so what is a rare disease in the U.S a rare disease is defined as any Patient Group that is 200 000 patients or less and in the size of a country like the United States that's about half a percent of the population so so small and hence the name rare however when you consider that there are seven thousand rare diseases in the world and you combine them collectively they're not so rare anymore in fact 400 million people worldwide suffer from rare diseases making them one of the most let's say Universal categories of patients that are underserved almost the same size as cancer and cancer has a certain universality in omnipresence to it of these seven thousand rare diseases 80 are genetic in origin and 50 of them affect children one in three of those children do not make it to their fifth birthday okay and that is a real tragedy rare disease are often Progressive debilitating and significantly impacting patients and their families and as you can imagine these diseases take a significant financial toll on the families the Health Care system and society as a whole but it's largely unrecognized but despite all this clear need 95 percent of rare diseases have no treatment option whatsoever and that makes this as I said one of the most underserved patient communities in the world so let's talk about what's driving that there are two major problems that we need to attack one is under diagnosis and the other is under treatment when you think about under diagnosis this is where there is a treatment option available but the patients are not getting the correct diagnosis because the individual rare diseases are so uncommon the symptoms and the effects are often unidentified and families struggle to get an appropriate diagnosis the process becomes hence the title of this talk a cycle of uncertainty they go years without getting an appropriate treatment because there's no awareness nobody knows what the disease is nobody can identify the symptoms including the doctors so eight years is a long time to go to get a correct diagnosis it leads to frankly problems even in sophisticated countries with well-developed Health Care Systems like the United States many families spend years bouncing around receiving multiple misdiagnoses very frustrating as you can imagine and this prolonged period of uncertainty can be profound on many levels emotionally physically mentally and financially this results in delays that could have helped patients and their families sooner so let's focus now on under treatment this is the reverse this is where the patient does have a diagnosis but then they soon learn that there is no treatment option available for them or that they cannot access that treatment not remember 95 of rare diseases have no treatment options so for patients who are lucky enough to get a correct diagnosis then they are told there is no treatment choice imagine that so there are many reasons why so few rare diseases have treatment options obviously there's poor understanding of the diseases since they're so small individually but collectively so large but they all have different patterns that say emerge conducting research and clinical trials in the space is also challenging because the patient group is so thinly and widely dispersed around the globe which makes it very challenging and it in any case I can't really say which is worse having a diagnosis but finding out there's no treatment or suffering for many years without a correct diagnosis so let me talk about what solutions could be on the horizon from a policy point of view to deal with diagnosis and treatment that patient Journey that we can all positively affect thankfully the science is moving rapidly and we're on the cusp of many through new breakthroughs there are about 700 products in development today including gene therapy they're on the cusp of getting approval and coming to the hands of the patients and the caregivers we need stronger policy and legislation to ensure that all patients have timely and accurate diagnoses and access to the treatment no patient should be left behind we can dramatically improve the diagnostic pathway through newborn screening I know this sounds basic but believe it or not this is not a common thing in the United States or consistently I should say every state has their own way of doing newborn screening and they do not all comply with the federal list so what happens is depending upon the ZIP code you're born in you may or may not have certain genetic screens done when you're born this leaves hundreds of babies undetected and without timely access to care every year it's hard to imagine but to ensure that babies born in every state in the United States have the same opportunity for a diagnosis it's really important to pass legislation at the local level requiring states to screen all newborn babies on for any disorder that is on the federal list and with that screening frankly we'll make a giant step forward into the consistency of helping those babies when they're born as I said there should be no more death by ZIP code let's also talk about driving Innovation to create new treatments and many people may have heard of the prescription drug user fee act or pedufa this is an incentive for regulatory Pathways and Drug development in rare diseases that is we believe is should be protected and even expanded and this will give the best chance for everybody who's diagnosed to gain access to the treatment that they need for example today in the United States the house and Center are actively working to pass pass legislation to reauthorize padufa which is already in existence this will accelerate drug development in so many ways it will allow us to provide resources for cell and gene therapy which is the most pioneering of Sciences that we have it will advance real world evidence which is an important factor we even saw that at play during covid this will also allow us to validate new rare disease endpoints because these diseases have never been studied in the way we're proposing to study them and it will protect the Integrity of the accelerated pathway which essentially gets medicines to the patients who need it as fast as possible so we are calling on Congress to reauthorize padufa in advance of the October 1st Sunset date so we can continue to incentivize and drive forward the scientific innovation for those new treatments the patients as I said are waiting and let me say yes Hope is on the horizon let me close where I started and that is with my daughter Asha my wife and I chose her name sorry it gets a little emotional my wife and I chose her name because Asha means hope in Sanskrit and that is the emotion we held on to when my wife was pregnant with her Asha was really born with that sense of hope and lived her childhood with that same sense of hope and by the way she still around today I just want to make sure you know that before I show um she still deals with some physical deficits but basically she's perfect in any other way every other way as you can see from this picture she leads a robust and happy life she's funny she's quirky and she's super social she's the one in the glasses in any picture that you see or red ear muffs those are two signature moves um she has a red belt in Taekwondo and she just finished a Broadway summer camp of a production of Beauty in the Beast she was a peasant in the ensemble cast but this is what I want for every rare disease patient we want them to be able to live their lives full of joy of laughter and most of all hope her name's sake I'm optimistic that we can make this happen if we keep pressing on the two fronts we have to prioritize Innovation to create new life-changing life-saving treatments to treat these patients and equally as important we have to make sure we advance the policy environment to make sure like newborn screening we have the most timely and accurate and proper diagnosis possible every patient should have access to the care that they need that they deserve that they want so because many rare disease patients can't afford to wait I think you would agree with me that they shouldn't have to so let's change their experience and let's change it together thank you very much for your time and attention [Music]

Channel: AtlanticLIVE

Views: 314

Keywords: Pfizer, disease, rare disease, diagnosis, health care, politics, atlantic event, health medicine, medical, access, oncology, atlanticLIVE, atlantic cover story, the atlantic festival, suneet varma

Id: m1yvnL9vPtI

Length: 10min 18sec (618 seconds)

Published: Thu Sep 22 2022