By Vence L. Bonham and Anitra Persaud
Scientific advancements in gene therapy and the implications of leveraging this technology to develop new curative therapies are at the forefront of medical research. Sickle cell disease (SCD), the most common genetic blood disorder, stands center stage. Last month, 60 Minutes aired a segment showcasing the story of a patient at the NIH Clinical Center who is on her journey to a cure of sickle cell disease (SCD) with the help of an experimental gene therapy.
Preliminary clinical trial findings suggest that gene therapy has an acceptable level of safety and can help individuals with the disease produce normal red blood cells instead of the sickle-shaped ones that underlie the physiological basis of the disease and its complications. Given these promising results, there is hope that gene therapy may catalyze a turning point for the SCD population, a community that has long suffered the debilitating effects of not only their disease, but of longstanding neglect within the medical system and research enterprise.
In the United States, an estimated 100,000 people are living with SCD. These individuals often need to manage their disease daily and are forced to interact with the health care system frequently. While the mortality rate of children born with SCD has declined in the United States, adults with SCD continue to die prematurely. Both gene therapy and genome editing are being explored as potential treatment modalities for SCD. While gene therapy entails adding a normal copy of the gene to compensate for the gene mutation, genome editing involves making changes to existing genes.
We conducted a qualitative study from 2017 to 2018 in order to examine the views of SCD adults, parents of individuals living with SCD, and physicians who care for this patient population, towards these new genetic therapies. Study findings were published in Genetics in Medicine, the official peer reviewed journal of the American College of Medical Genetics and Genomics (ACMG). Study participants expressed tempered hope that genome editing technology would rechart the course for SCD. Optimism was expressed within the context of reversing the severity of the disease and historical lack of available treatment options.
“With me sitting here in pain right now…if there’s something that can be done to heal that, then I’m for it.” (Patient). “I’m very optimistic. It’s another possible option for sickle cell patients and unfortunately we don’t have many.” (Patient).
However, concerns related to trial participation burden, uncertainty of clinical outcomes, equity in access, and cost were raised. While the cost of a genome editing treatment for SCD is currently unknown, it is estimated the price tag will be “upwards of $500,000 to $700,000 for sickle cell gene therapy”. It is worthwhile to consider this within the context of the average SCD person’s life expectancy and associated lifetime income loss. One study found, “The 22-year difference in life expectancy [compared to a matched non-SCD population] results in approximately $700,000 in lost lifetime income for each person born with SCD.”
It is important to note that while SCD affects millions worldwide, the burden of sickle cell disease does not disproportionately fall on the shoulders of high-income countries like the United States and other countries where the first clinical trials are being conducted; instead, most of the world’s SCD population resides in sub-Sahara Africa and India. Ethical principles of health equity and justice must be examined as these new therapies are developed and progress to first-in-human clinical trials.
A physician in the study remarked, “To have the sickle cell population move this forward and then not have this available for them equally would be extremely traumatic to the community.”
Who will benefit with sickle cell disease? Can new models of payment be developed so that individuals with sickle cell disease within the United States can access the therapy? How can equitable access be provided to the countries with the highest burden of disease and limited health care infrastructure? There is much work to be done by the scientists and policymakers in making this cure a reality to all in need.
Vence L. Bonham, JD, is Associate Investigator, Social and Behavioral Research Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health. Anitra Persaud is a First Year Medical Student at the Perelman School of Medicine University of Pennsylvania and former Postbaccalaureate Fellow, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health.
The opinions expressed in this blog are those of the authors. No statement in this blog should be construed as an official position of the National Human Genome Research Institute, National Institutes of Health, or Department of Health and Human Services.