Rare diseases and precision medicine: the science of specificity
Recently, I found myself back where it all started - supporting a targeted therapy in oncology. My career began medical writing for the world's first monoclonal therapy for breast cancer, over 20 years ago. Even then the term precision medicine was referenced, but as an ambition for the years to come, with this monoclonal antibody being a critical milestone to be celebrated across the world. Precision medicine is often considered more relevant when we think about oncology, and undoubtedly, oncology has seen impressive evolution and innovation. Today's precision medicine in oncology encompasses molecularly targeted therapies, antibody–drug conjugates, bispecific antibodies and increasingly sophisticated biomarker-driven approaches, and more is yet to come. But if we switch our focus to rare and ultra-rare diseases, where does precision medicine fit? Surely if every rare disease product targets a specific alteration, mutation, or dysfunction, then precision medicine belongs just as much to rare disease as it does to oncology.
The logic of targeting however does not and should not belong to oncology or rare disease alone, it belongs to any disease where the underlying biology is sufficiently understood to match a therapy to a patient, with precision.
The overlap in oncology and rare, nonetheless, is of interest. Many rare diseases are, at their core, diseases of a single gene or a defined molecular pathway. The same genomic tools that identified rare disease targetable mutations are now illuminating the mechanisms behind oncology that were, until recently for many tumour types, poorly characterised. Both are drawing on the same scientific infrastructure, the same platform technologies, similar regulatory frameworks for accelerated approval, and the same biomarker-driven trial designs. The boundaries are dissolving.
However, precision medicine is not simply about developing a treatment. It is about understanding disease biology sufficiently well to identify the right patients. The more we understand the biology, the more specific the opportunity becomes.
The science of precision medicine is genuinely complex. The patients, carers, and clinicians who need to understand it are not always equipped with the same technical vocabulary as the researchers who developed it. Bridging that gap, translating molecular precision into human meaning, is one of the defining communications challenges of this era.
In a world where the prevalence of some diseases is increasing while others decline, our focus will continue to evolve, shaped by patient needs and the demands of healthcare. There is still so much to achieve in both oncology and rare disease, where unmet patient need remains staggeringly high. Precision medicine brings us closer to the broader ambition of ensuring that every patient receives the best possible therapy. But greater precision inevitably means that individual therapies may benefit smaller, more defined patient populations. The challenge, therefore, is to continue exploring new therapies, combinations and treatment sequences, so that as many patients as possible can benefit from advances in science. For companies working across both oncology and rare diseases, the strategic challenge is to communicate specificity without sacrificing accessibility.
As the science of specificity advances, the strategy and communications infrastructure around it needs to keep pace. Precision medicine only delivers on its promise when the right patient can actually be found.