After decades of limited progress in the treatment of sickle cell disease (SCD), both patients and physicians are on the verge of monumental change. On Friday, the Food and Drug Administration approved Vertex/CRISPR Therapeutics’ Casgevy and Bluebird Bio’s Lyfgenia, the first one-time gene therapies that will treat the underlying cause of SCD rather than just the symptoms. They are the first therapeutic treatments using CRISPR gene editing technology approved by the FDA for any medical condition.
And yet, this still won’t be enough for most people living with SCD.
The reason is simple: Any treatment patients can’t access will fail to live up to its promised clinical impact.
SCD is a lifelong, inherited blood disorder that severely impairs the quality of life for approximately 100,000 people in the U.S. and 20 million worldwide. A person with SCD has misshapen red blood cells, restricting the flow of blood in the body and resulting in infections, severe pain episodes, eye issues, stroke, organ damage, and early death.
SCD has been historically neglected by the research community. Because of this, the standard treatment for SCD has involved interventions — including blood transfusions, pain medications, and hydroxyurea — that focus only on symptom relief. Even then, the stigma associated with the use of pain medications has kept treatments out of reach during pain crises and hydroxyurea is drastically underused. Bone marrow transplants, a potentially curative treatment for SCD, rely on finding suitable donor — though recent research suggests that it may be feasible to expand that donor pool with half-match transplants.
People living with SCD have long awaited more treatment options, and while we can celebrate scientific progress, the reality is that these new potential treatments will likely not reach most of the SCD community. Cost is one factor behind this reality: Casgevy will cost $2.2 million per treatment, and Lyfgenia $3.1 million. But the challenge of access is more than financial.
Underlying the issue is the lack of adult hematologists. A 2019 survey of U.S. hematologists found that 46% reported a shortage of classical hematology specialists. Without a strong pipeline of trained specialists in the U.S to help people with SCD, patients often fall through the cracks when transitioning from pediatric care. This is especially apparent in rural communities, where patients may need to travel unreasonable distances to find a health care provider who can treat them.
Existing therapies and the specialists trained to administer them must be more broadly and readily available to people living with SCD. This requires several fundamental changes — from critical policy priorities to how we approach the practice of medicine.
First, Congress must pass the Sickle Cell Disease Comprehensive Care Act, which would establish a demonstration program in up to 10 states to ensure people living with SCD who receive benefits through Medicaid have better access to comprehensive, high-quality outpatient care. The bill would help Medicaid beneficiaries with SCD receive a tailored care plan with support from a multidisciplinary care team that includes subspecialists such as hematologists.
Moreover, the bill establishes full federal reimbursement for services and care coordination provided under the demonstration program. Ultimately, if passed, the legislation would reduce emergency department visits and hospital stays, providing savings to the states that participate while improving the quality of care for individuals with SCD.
Second, while the Centers for Medicare and Medicaid Services has recently released an action plan on SCD, the plan needs expansion to include comprehensive care as a core component — a central element that is desperately needed to change the current SCD landscape.
Finally, as the president of the American Society of Hematology (ASH), it is important for me to stress that the hematology community, from practitioners to educators to organizations, must nurture hematology as a viable career path for medical students. Unfortunately, we have been headed in the wrong direction. In 1995, there were 74 accredited U.S. hematology training programs and 75 hematology-oncology programs in existence. By 2018, there were only two single-specialty hematology programs compared with 146 combined hematology-oncology programs. We need to trend back to a greater equilibrium.
We’ve seen that students who engaged in relevant mentorships, fellowships, and residencies in their schooling were more likely to be interested in and pursue careers in hematology. To that end, ASH has established a program offering physicians the opportunity to pair comprehensive classical hematology training with career-enhancing education in transfusion medicine and sickle cell disease, among other classical hematology fields. Early intervention and exposure to hematology will help ensure the next generation of specialists is well equipped to provide the best care for people living with SCD.
We are all excited about scientific advancement, but we must address the critical need for accessible, comprehensive care options for people living with SCD to make those advancements clinically relevant. It’s up to us to put the same effort into improving access to treatments — and care providers — as we do to finding better treatments. Because the SCD community deserves more.
Robert Brodsky is president of the American Society of Hematology and professor of Medicine and Oncology at the Johns Hopkins University School of Medicine.