In a textbook, sickle cell disease (SCD) and transfusion-dependent beta thalassemia (TDT) are biologically understood and characterized genetic diseases. In real life, many of those characterizations merely scratch the surface of the true lived experiences and real-world impacts of what it’s like to live with these diseases. Our Health Economics and Outcomes Research (HEOR) team conducts research with the goal of better understanding and quantifying the effects of these serious diseases. 

The role of HEOR in biotech

HEOR is a multidisciplinary field encompassing health economics, outcomes research, patient-reported outcomes, epidemiology, biostatistics, health policy, medical science and more — and plays a pivotal role in evaluating and communicating the value of treatments across the health care systems and societies. We use rigorous methodology, across a range of disciplines, to provide evidence-based insights that highlight the unmet need and holistic potential value of therapies. From conducting research studies to developing modeling techniques to generating compelling data packages for different stakeholders, we play a pivotal role in ensuring the potential value of a therapy is well understood.

In HEOR, much of our research relies on datasets to quantify the clinical and economic burden of disease, elucidate the unmet need and ultimately help evaluate real-world product effectiveness. Embedding the patient perspective in our research and conducting research with the specific purpose of documenting and where possible, quantifying the patient experience, is paramount to supporting patient communities and ensuring these perspectives are considered in the evaluation of therapies. As Vertex continues to work on targeting the underlying cause of serious diseases like SCD and TDT, our team continues to execute research that both includes and highlights the patient perspective. 

Our HEOR research on sickle cell disease and beta thalassemia

To understand how a disease truly impacts a patient’s life, we must hear from them directly. While we often hear perspectives from those living with SCD and TDT in a variety of blogs, the impacts many describe are not always well measured in the scientific literature. Our teams have been working to change that. Over the last two years, we have been engaging with the SCD and TDT patient communities and gathering qualitative and quantitative data on the quality-of-life impacts of these diseases. In HEOR we refer to these impacts on patients, families and society as the “humanistic burden.” 

To better understand the humanistic burden, we developed a multinational study that invited those living with SCD or TDT in the US, UK, France, Germany and Italy to participate in interviews, focus groups and/or surveys. Nearly 140 individuals with TDT and over 200 individuals with SCD participated in a survey to quantify humanistic burden using common survey tools, as well as interviews and focus groups to capture their lived experience on additional topics. 

Our findings have been eye-opening.
 

• There is a substantial humanistic burden for those living with SCD and TDT, despite current treatments. People with SCD and TDT report significant impacts on their health-related quality of life across all domains such as physical health, emotional health and social functioning, with patient-reported outcome scores consistently lower than the U.S. general population. 

• Pain and fatigue were the top two most burdensome symptoms described by people with SCD and TDT.

  • Why it matters: Severe fatigue impacts so many facets of these individuals’ lives — from limiting the ability to spend time with friends and family, to disrupting activities of daily living like cooking or cleaning.  

• We quantified limitations on work and career abilities — where 61% of people with SCD and 32% of people with TDT report being unemployed or unable to work due to their condition.

  • Why it matters: As we heard from an adult living with TDT, “we can’t work, or you go through a lot of jobs because they get sick of you missing dedicated days…”

• Our findings highlighted the impact of health care inequities on the ability for people living with SCD to receive optimal care. Sixty-eight percent of SCD survey participants felt unfairly treated while seeking care due to their race (67%) and/or when requesting more pain medicine (65%).  

  • Why it matters: Those living with SCD continue to highlight the systemic racism and prejudice they experience in the health care system due to the color of their skin and their need for ongoing pain management. “Unfortunately, that’s the kind of care that so many Sickle Cell Warriors are faced with, not being believed that they’re in pain, not being believed that they have sickle cell…they often think that we are drug seeking,” said one Sickle Cell Warrior upon describing the challenges they’ve faced in receiving care in the hospital.

• Finally, our research quantified the time burden for those living with TDT, as their lives depend on receiving blood transfusions every 2-5 weeks. Our global survey showed 62% of adults living with TDT reported spending more than six hours a month at medical appointments, and over a third (36%) needed more than six hours of care each month from family members and caregivers to manage their disease.

What’s next?

Our research has helped us better understand and communicate the day-to-day impacts of SCD and TDT, better quantify the patient experience, and highlight areas of importance that are currently under-reported and/or under-appreciated. We continue to present our research at scientific congresses in the U.S. and Europe, and they have been received with great interest. Our 2022 presentation received “Best of ASH” at the 2022 American Society of Hematology (ASH) Annual Meeting. The data gathered on health equity was the result of working closely with patient advocacy leaders to create thoughtful, patient-friendly questions to gather insights on this important topic, and the findings highlight unmet needs and health inequity concerns for this under-served patient population. In May 2023, our team won Best General Podium Research Presentation Award at the Professional Society for Health Economics and Outcomes Research (ISPOR), the annual congress for professionals in HEOR, for our work on the limitations of certain survey tools in the TDT community.  

As we continue to share our outcomes at various global medical congresses, we have two goals:

1. Inspire change and help improve standards of care by better informing the health care community about the lived experiences of people with SCD or TDT.

2. Shine a light on the needs and burden of disease that patients and families face. 

Stay tuned for more stories that will dive deeper into the HEOR team’s research, from career impacts of the disease to measured outcomes on health inequities.