Last fall, to great fanfare, US regulators approved two gene therapies for sickle cell disease, and the European Union and UK soon followed. Many people hope that these treatments will provide a “functional cure” for the genetic condition, which causes rigid, misshapen red blood cells that lead to anemia, episodes of extreme pain, blood vessel and organ damage, stroke risk and lower life expectancy. These sickle cell therapies also bring us closer to an age of “CRISPR medicine” in which new gene-editing tools could be used to fix a range of debilitating genetic diseases, including Duchenne muscular dystrophy and cancer.
For the eight million people across the world, including the 100,000 in the U.S., who have sickle cell disease, these gene therapies could be life-changers. Yet immediately after the approvals, attention turned to the prohibitive cost of the treatments. One company sells its therapy for $2.2 million, and the other does so for $3.1 million. Other gene-based treatments have similar price tags.
Reducing costs for these therapies is important. It is unlikely to make life much better for most people with sickle cell and those with other genetic diseases, however. Many will simply be unable or unwilling to take these treatments, which require multiple hospital visits (and often overnight stays) over the course of many months. Indeed, we already know that many people aren’t getting what treatments already exist in the U.S. for sickle cell for a variety of reasons. Of the people with the disease who have multiple pain episodes related to blood-flow blockage per year, only 35 percent receive the most common and cheapest medication, hydroxyurea, and the majority of them receive this medication by itself. Only 13.2 percent of people with multiple pain episodes receive one or more of any of the newer medications approved since 2017, either in combination with hydroxyurea or alone.
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People already struggle to get treatment for sickle cell disease, so reducing the cost of gene therapies will not make treatment any more accessible.
Understanding this, what if we were to treat barriers to care other than cost as innovation problems? What if the best way for technology to serve society, and particularly to advance equity, is for governments and innovators to focus on more than creating potentially lifesaving treatments? Some might argue that social and health challenges are simply not the responsibility of scientists or biotechnology companies. But if the goal is for people to be healthy rather than to simply put inaccessible products on the market, these challenges must be.
Currently, many scientists, physicians and people with the disease view the treatments as an important step toward racial equity after generations of discrimination and mistreatment—sickle cell disease mostly affects people of African, South Asian and Middle Eastern descent.
Yet many people with sickle cell disease have limited incomes and are unlikely to pay for the therapies out-of-pocket; 50 percent of people with the disease are on Medicaid. In response, both private insurers and the Centers for Medicare & Medicaid Services (CMS) are developing “outcomes-based” reimbursement plans for cell and gene therapies in general. Under these plans, drug companies would reimburse payers if a treatment is less successful than expected over a prespecified number of years.
But this is only part of the equation: many people with sickle cell simply do not have the care infrastructure—including a primary care physician or access to a specialist hematologist—needed to participate in the full course of the gene-therapy treatment. This absence of care infrastructure may be the result of precarities, including a lack of employment, housing, or health care or wariness of the scientific and medical institutions where people have experienced racism for decades. People working service jobs and receiving hourly wages cannot leave work easily or frequently. People who want to have children may not want to participate either because the new treatments involve chemotherapies that can affect fertility.
Beyond the idea of a functional cure, for most people with sickle cell, their immediate priority is to alleviate the extreme pain they experience. In fact, as described by Ghanian sickle cell expert Felix Israel Domeno Konotey-Ahulu in a 1975 article, the names for the disease in several West African languages—chwechweechwe (Ga), nwiiwii (Fante), nuidudui (Ewe) and ahotutuo (Twi)—are onomatopoetic representations of the relentless and repetitive gnawing pain people with sickle cell experience.
Because sickle cell disease is considered a blood disorder, however, scientists and industry have focused their attention on correcting the blood cell dysfunction. Little scientific effort is focused on developing new pain treatments for this population or studying the efficacy of existing therapies for managing pain. Instead, when people with this disease visit emergency departments seeking pain relief, they are often assumed to have a substance use disorder.
So how might we trigger innovation that responds to public needs and takes people’s lived experiences seriously? First, governments must change who sets research agendas and how. Technical experts, including high-level advisory committees, currently set priorities for most funding agencies. This leads to prioritizing scientific and industrial priorities, such as attention to novelty and efficiency, over the needs of the individuals affected by a disease.
People with sickle cell disease, for example, and other experts who understand the impacts of disease in society rarely play a role; of the members of the U.S. National Health, Lung and Blood Institute’s Sickle Cell Disease Advisory Committee, only two are grassroots advocates for people with the disease. This is the case for many underserved illnesses in society.
What if people who understand sickle cell disease historically, psychologically and socially sat on this committee? They might steer more attention toward pain and addressing racism in science, technology and medicine. They might also encourage collaborations across the clinical, social and basic research arms of the National Institutes of Health rather than defining research projects according to scientific or medical specialty.
Second, governments can steer funding toward interdisciplinary research projects that focus on more immediate benefits. They could encourage true collaborations among biomedical scientists, social scientists and people with the disease so that knowledge about the technology’s likely effects inform its design and development. (The National Science Foundation is trying to pioneer this approach through its new Responsible Design, Development and Deployment of Technologies program.) People with sickle cell disease and social scientists with relevant expertise could also sit on grant review committees to ensure that the portfolio of funded projects fits with their knowledge and concerns and doesn’t just focus on the molecular determinants of the disease.
Third, the private sector must also take responsibility. One way to create an incentive is through indexes, such as those that exist for environmental sustainability, that publicly assess the social and equity impacts of a company. These indexes would evaluate the real social consequences of a company’s products, including whether and how it included people with a disease in its innovation processes, rather than force people to simply trust claims about a technology’s transformative potential.
To develop technologies that successfully solve serious health and social problems and to ensure that people benefit from innovation, we need the public and private sectors to invest in high-impact interdisciplinary projects early in the innovation process and—above all—to value the expertise of individuals with a disease. Otherwise treatments that cost billions to create and cost millions to administer will continue to be out of reach for those who need them the most.
This is an opinion and analysis article, and the views expressed by the author or authors are not necessarily those of Scientific American.