Cheryl Schwartz, SVP of Takeda U.S. Rare Disease Business Unit, discusses Takeda’s report that calls for enhanced health equity and timely diagnosis for rare disease patients. She also talks about Takeda’s main focuses and their partnership with NORD, as well as outline additional details about this call to action for the industry.
Transcription:
My name is Cheryl Schwartz, and I am the senior vice president for Takeda’s U.S. Rare Disease Business and our commercial operations group, and I’m also a member of Takeda’s U.S. Executive leadership team.
This U. S. Rare Disease Business unit that I speak of is comprised of a very large and diverse portfolio of about 15 different therapeutics that span a wide variety of rare disease areas, including hemophilia and rare bleeding disorders, lysosomal storage disorders, hereditary angioedema and rare endocrine disorders, and our transplant business. So, we have long been working with NORD on a variety of different initiatives, and we’ve also long been working on issues related to accelerating time to diagnosis and treatment for communities that are living with rare disease. So, this initiative that we did with NORD is building off of a previous white paper that we did that looked at reducing time to diagnosis for people that are living with rare diseases, focused on policy initiatives.
But as we were going through that initiative and that discussion, what we realized is that we needed to do a better job as a broader rare disease community, on also focusing on how the diagnostic journey is complicated by health inequities that exist. So, we know that being diagnosed with a rare disease is no small undertaking for any patient. That diagnostic process can take six to nine years, and in some cases, it can take decades, but that is also compounded and complicated by health inequities. So whether that is things that are driven by systemic issues, things like structural bias, institutional racism, or broader issues surrounding social determinants of health, what we have found is that we, as a joint community, need to make sure that we’re thinking through, how do we really support all patients to ensure that they get the resources that they need to be able to get the diagnosis and the treatment for their rare disease. And that’s really what precipitated this collaboration with NORD on this policy initiative as well.
It’s a very complicated undertaking. I think that there’s a variety of different issues here in terms of diagnosis for rare disease. I mean, first and foremost is the horse zebra analogy that we also often hear about, and that is that many treating physicians just don’t have experience with rare diseases to recognize something when they see it. Many of these diagnoses can be very complicated and can require a great deal of exploration to understand what is driving the symptoms that you’re seeing in these patients. But that’s further compounded by some very specific issues in terms of access to care.
So some of the key issues that we focus in across all populations, but also focused on more equitable access for treatment, are areas like increasing equitable access to genomic screening. So we now have access to really great tools for full genome and exome sequencing. But not everyone has availability and access to those resources in the same way.
Because so many of these patients are seen by a primary care physician or a pediatrician or a specialist that might not have expertise in rare disease, we need to make sure that we have greater support and access to both centralized and specialized rare disease centers of excellence, people that really have experience treating and identifying rare diseases. And how do we create more connectivity between the treating physician and those centers of excellence. Also, we really need to think about how we can break down some of the silos that exist with regard to the data landscape for rare disease populations. Because these patients are so few and far between, we don’t have the same access to data as we do in other more mainstream areas of health. So we really need to make sure that we are partnering across different constituents that work in the rare disease space to really improve the data landscape and make sure that we have access to this data to better inform treatment paradigms.
And then we also really need to make sure that we have the appropriate and accessible, culturally relevant rare disease resources for patients as well. So I think it’s very easy to go onto your computer and sort of Google something about diabetes or heart disease. It’s not so simple if you have a very rare or ultra rare condition, and that’s also compounded by if you have certain barriers to accessing information. So whether that is access to something as simple as broadband access, to be able to get access to virtual information all the way to translation.
To stay up to date on rare diseases, visit https://checkrare.com/
