Sickle cell disease (SCD) is an inherited blood disorder affecting more than 120,000 people in the U.S. and at least 70,000 more across Europe and Canada. While SCD was one of the first genetic diseases to be biologically understood and clinically characterized, those characterizations have only scratched the surface of what it is like to live with this disease. For those touched by SCD, the true lived experiences and impacts on day-to-day life extend far beyond what can be found in a textbook.
As new therapies emerge, health-care decision-makers are seeking effective methods to evaluate their value. Robust data analysis and evidence synthesis are required to inform evidence-based decisions. That’s where health economics and outcomes research (HEOR) plays a crucial role.
Nick Li is global HEOR lead for hemoglobinopathies at Vertex Pharmaceuticals. Below he explains why this type of research is essential to help understand the lived experience of SCD and ultimately to support modern health-care decision-making.
Nick Li, global HEOR lead for hemoglobinopathies at Vertex Pharmaceuticals.
Vertex Pharmaceuticals
Why would a pharmaceutical company conduct health economics and outcomes research?
Health economics and outcomes research is a multidisciplinary field in which we use rigorous methodology to better understand and articulate the burden of disease. We can describe unmet needs and eventually communicate the value of a treatment. Embedding the patient perspective in our research and conducting studies to specifically document and quantify the patient experience is paramount to supporting patient communities. This way we can ensure these perspectives are considered in the evaluation of therapies.
How can HEOR help with sickle cell disease?
Over the past few years, we have been doing HEOR studies with the SCD community; gathering qualitative and quantitative data on the humanistic burden, health inequities and economic burden of the disease. Our findings have been eye-opening: we learned about stigma, prejudice and systemic racism in SCD care and highlighted the multifaceted physical and mental toll on sickle cell warriors and their families. In-depth HEOR analyses can often help translate patients’ experience into data that can inform health-care decision-making.
What is Vertex learning about sickle cell disease from HEOR?
While SCD can affect a person of any race or ethnicity, the disease disproportionately impacts non-Hispanic Black or African American people, comprising more than 90% of all those living with the disease. Systemic racism and stigma surrounding the disease further exacerbate these inequities.
For people with SCD, the struggle with excruciating pain is real and part of everyday life. As a result, individuals frequently visit the emergency department seeking relief from their pain. However, health-care providers do not always take these complaints seriously. Instead, they may suspect drug-seeking behaviour, label them as drug addicts and even deny them pain medication.
Besides the health inequities, we would say the next biggest challenge is the sheer magnitude of impact on a patient's day- to-day life. Even on a typical day, SCD symptoms can be unpredictable, and patients report limits on basic daily activities such as cooking, walking and showering.
These challenges restrict participation in family and social life and can be detrimental to psychological well-being.
And the impacts go beyond health?
Unfortunately, yes. The need for ongoing medical care, including visits to the doctor, medications and specialized treatments, means costs can add up quickly. Emergency department visits and hospitalizations are often unavoidable for individuals with SCD, and they can lead to unforeseen medical expenses and potential loss of income. This can become a vicious cycle: job pressure drives health issues and costs, but missed work reduces income and leads to financial instability.
What about school and higher education?
Managing a chronic disease such as SCD can severely interfere with a person’s academic progress. This can lead to them falling behind in coursework and having difficulty keeping up with their peers, ultimately affecting educational attainment. The challenges only increase when pursuing higher education. The unpredictable nature of SCD can make it challenging to meet attendance requirements and sustain consistent academic performance. As a result, pursuing a degree may take longer or even be impossible, affecting career prospects and financial stability. The stress associated with all those challenges may also result in health issues and an increased likelihood of pain crises. So the vicious cycle continues.
What more do we need to find out about life with SCD?
It's time to look at the adolescent and pediatric patient population and understand how the disease impacts them. Another important area is to bring in the caregivers’ perspective, because they play an instrumental role in the day-to-day management of SCD.
Anything else?
The work of our HEOR team is only one small aspect of Vertex’s commitment to the SCD community. We’ve committed $50 million through Vertex and the Vertex Foundation towards health equity initiatives, including support for the Massachusetts General Hospital Comprehensive SCD Treatment Center. We also provide support through grants and other funding opportunities that empower SCD advocacy groups globally, facilitate community gatherings, enhance medical education and support conferences. Our most recent funding supported a variety of programs and engagements, including community gatherings, disease awareness activities and continuing medical education. Together, we will work towards a more equitable future for every person living with this disease.