Gene and cell therapies represent a fundamental shift in how rare diseases are treated. Rather than managing symptoms, these therapies target the underlying genetic causes of disease, with the potential for durable, long-term correction. However, the pace of scientific progress has outstripped the infrastructure needed to deliver these treatments equitably. For these therapies to reach the patients who need them, development programs must account for patient understanding, access constraints, and the practical realities of engagement.
Our latest whitepaper, Gene and cell therapies in rare diseases: Aligning innovation with patient needs, examines the current landscape of gene and cell therapy development, with a focus on patient perceptions, access barriers, and strategies for more inclusive trial design. The science continues to advance, but significant structural challenges remain: high treatment costs, inconsistent patient understanding, and unequal access across geographies and populations.
Gene and cell therapies are transforming rare disease treatment by targeting underlying genetic causes rather than managing symptoms alone. Gene therapy modifies a person's genes to treat or cure disease. It can work through several mechanisms: replacing a disease-causing gene with a healthy copy, inactivating a gene that is not functioning properly, or introducing a new or modified gene to help treat a disease. Cell therapy replaces or repairs damaged cells, often using genetically modified cells derived from the patient. These approaches are particularly relevant for diseases caused by single gene mutations, where correcting the root cause can produce durable outcomes.
The way these therapies are delivered varies significantly. Some use modified viruses, known as viral vectors, to carry therapeutic genes into human cells. Others rely on gene editing technology to disrupt or repair specific mutations directly. In ex vivo approaches, cells are removed from the patient, genetically modified in a laboratory, and then returned. Each method carries distinct risk profiles, procedural requirements, and implications for patient experience. For patients and their families, understanding these differences is an important part of informed decision-making, and a frequent source of confusion when information is not communicated clearly.
For these therapies to succeed, development programs must account for patient experience at every stage. Patients need clear, accessible information about treatment benefits, risks, and long-term effects. Without it, engagement and retention suffer.
Access remains a significant barrier. High treatment costs restrict availability, particularly in lower-income regions where conditions like sickle cell disease are most prevalent. Reducing the operational burden on patients, for example through at-home testing and remote engagement models, can help extend the reach of these programs and improve the likelihood that eligible patients participate."
The whitepaper expands on the following recommendations for relevant stakeholders.
For pharma and biotech:
For policymakers:
For patient advocacy groups:
Gene and cell therapies are redefining what is possible for patients with rare genetic diseases. Many of these therapies are designed as one-time treatments, which means the window for patient engagement, education, and access is narrow and consequential. Getting it right requires more than scientific innovation. It requires deliberate program design that accounts for affordability, accessibility, and patient understanding from the earliest stages. The full whitepaper outlines how researchers, policymakers, and advocacy groups can work together to close these gaps and deliver on the promise of precision medicine.
Involving patients early in therapy design, through flexible trial formats, at-home testing options, and patient-reported outcome measures, produces evidence that is more relevant to lived experience. It also supports development of therapies that are more likely to reach the people who need them most.