From One-Size to Custom-Fit: The Transition from Blockbuster Drugs to Personalized Medicine in Rare Disease Care

blockbuster drugs versus personalized medicine in rare diseases

From One-Size to Custom-Fit: The Transition from Blockbuster Drugs to Personalized Medicine in Rare Disease Care

In the dynamic world of pharmaceuticals, a pivotal transformation is underway, transitioning from the one-size-fits-all blockbuster drug model to the nuanced, patient-centric approach of personalized medicine. This shift is particularly significant in the realm of rare diseases, where the promise of tailored treatments heralds a new era of hope and challenges. The journey from broad-spectrum blockbusters to genetically informed, personalized therapies reflects not just scientific progress but a fundamental rethinking of drug development and patient care.

From Universal Solutions to Targeted Therapies

Historically, the pharmaceutical industry’s focus on blockbuster drugs aimed at large patient populations has been both lucrative and limiting. Challenges such as rising developmental costs and the complexities of market access have eroded the profitability of this model (Olafenwa et al., 2021). In contrast, personalized medicine offers a revolutionary perspective, emphasizing treatments designed around the individual’s genetic makeup, especially for those facing rare diseases. This approach leverages cutting-edge genetic and genomic insights to create therapies that are more effective and carry fewer side effects, marking a significant advancement in medical science and patient welfare (Lee & Choi, 2016).

Harnessing Precision Medicine in Rare Disease Care

Central to this evolution towards personalized medicine is the utilization of precision medicine techniques, as demonstrated by the insights derived from TrialHub’s intelligent data analysis tool, TrialHub IQ. Precision medicine techniques operate by tailoring medical treatment to the individual characteristics of each patient, focusing on how a person’s unique molecular and genetic profile can inform their susceptibility to certain diseases and responses to treatment. This is particularly transformative in the realm of rare diseases, where:

  • Precision medicine ends the diagnostic odyssey for patients by pinpointing the genetic cause of their condition, opening the door to targeted therapeutic strategies.
  • It facilitates the identification of therapies for rare patients, whose collective experience and genetic data can, in turn, benefit the broader patient population.
  • Through genomic analysis, particularly in rare cancers, precision medicine selects treatments with higher efficacy and lower toxicity, identifies high-risk patients, and reveals actionable therapeutic targets.

Notably, Next-Generation Sequencing (NGS) has been a cornerstone of precision medicine, leading to breakthroughs in diagnosing and treating rare genetic diseases. NGS enables the molecular diagnosis and treatment with personalized therapies as shown on Image 1, overcoming challenges like limited disease understanding, scarce clinical trials, and the high cost of specialized drugs. Moreover, precision medicine’s impact is already evident in oncology and is rapidly being integrated into ongoing drug discovery efforts, resulting in the approval of novel treatments for rare diseases and innovative delivery methods in cell and gene therapy.

Trialhub IQ answers the question about statistical results in NGS studies for precision medicine

Image 1. TrialHub’s answer to a question regarding statistical results for NGS results in rare disease studies. 
Source: TrialHub, pre-mortem analysis platfrom for clinical trial researchers

However, broader application of precision medicine faces hurdles such as high sequencing costs, challenges in variant sensitivity, practical complexities, and a lack of treatment options. Despite these obstacles, the potential of precision medicine and intelligent platforms like TrialHub, with a track record of creating efficient clinical trials for rare disease studies,  light the path for better future treatments.

The Role of Orphan Drugs and Regulatory Incentives

The orphan drug movement has facilitated the pivot towards personalized medicine, which focuses on addressing the needs of rare disease populations. These drugs, supported by legislative incentives to encourage research and development, as seen on Image 2, represent a key strategy in overcoming the limitations of the blockbuster model. The success of orphan drug legislation in promoting the development of rare disease treatments highlights the industry’s capacity for innovation when adequately motivated (Logviss et al., 2016; Schey et al., 2011).

trialhub answering question regarding NGS in rare diseases

Image 2. TrialHub’s answer to a question related to the usage of orphan drugs in the present versus the past. 
Source: TrialHub, a pre-mortem analysis platfrom for clinical trial researchers

Nonetheless, the path to bringing these drugs to market is fraught with challenges, particularly in pricing and reimbursement negotiations, underscoring the need for policies that balance innovation with affordability.

Towards a Future of Precision and Accessibility

The transition to personalized medicine in rare diseases is emblematic of a broader shift in healthcare, focusing on the unique genetic profiles of individual patients. This shift represents a significant departure from the blockbuster paradigm, promising improved outcomes through customized therapy. The industry stands at a crossroads where the potential for groundbreaking treatments for rare diseases through personalized medicine is immense. However, realizing this potential requires a concerted effort to ensure innovation does not come at the expense of patient access and affordability.

In conclusion, as the pharmaceutical industry moves beyond the era of blockbuster drugs to embrace the possibilities of personalized medicine, it faces both opportunities and obstacles. The future of rare disease treatment lies in the ability to harness genetic insights for the development of targeted therapies, ensuring that advancements in medical science translate into accessible, effective care for all patients. This shift not only signifies a transformation in drug development but also a recommitment to patient-centric healthcare, where treatments are as unique as the individuals they aim to heal.


Lee, S. and Choi, M. (2016). Ultra-rare disease and genomics-driven precision medicine. Genomics & Informatics, 14(2), 42.

Logviss, K., Krievins, D., & Purvina, S. (2016). Impact of orphan drugs on Latvian budget. Orphanet Journal of Rare Diseases, 11(1).

Olafenwa, A., Ojikutu, A., & Owoeye, O. (2021). Managerial competencies and competitive advantage in pharmaceutical blockbusters. International Journal of Business Management and Economics, 2(1), 53-79.

Palau, F. (2018). Biomarkers and personalized medicine in rare diseases. Arbor, 194(789), 465.

Rosenberg, N., Berg, S., Stolwijk, N., Jacobs, B., Post, H., Pasmooij, A., … & Hollak, C. (2023). Access to medicines for rare diseases: a European regulatory roadmap for academia. Frontiers in Pharmacology, 14.


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