Scrappy tech, high-quality experience

How rare disease therapy manufacturers can deliver

By Mathias Cousin and Jadie Rendon

Rare diseases pose unique challenges that demand greater engagement and orchestration across a small population. Their onset marks the start of a very long, complex, and burdensome journey for the patient, their family, specialists and allied health care providers (HCPs), and the rare disease therapy manufacturer.

  • Approximately 80% of rare diseases are genetic in nature1 and 83% of them have a pediatric onset.2
  • It takes an average of 4-9 years to accurately diagnosis a rare disease after the onset of symptoms.3
  • Forty percent of individuals are initially misdiagnosed4 with an average of three misdiagnoses.Patients, on average, consult seven to eight HCPs before receiving a final diagnosis.6

Shared challenges in rare disease markets

Supporting and engaging patients and caregivers at key moments that matter through each stage of the rare disease journey—symptom onset, diagnostic odyssey and referral, treatment, and long-term follow-up—can be quite challenging for a therapy manufacturer. The hypothesis is that understanding and engaging patients and key stakeholders as early as possible (ideally, prediagnosis) can provide distinct clinical, financial, and market advantages. Yet despite numerous opportunities to intervene, both manufacturers of first-to-market products and those with products in existing rare disease markets face shared challenges; among them:

  • Identifying and locating patients who meet criteria for clinical trials due to small populations and barriers in access to care in rare diseases.
  • Engaging with individual patients, patient communities, and patient advocacy groups in ways that are meaningful and executed in a manner that fosters trust.
  • Engaging with key opinion leaders (KOLs) and other medical stakeholders due to a limited number of centers of excellence (CoE)/academic medical centers (AMCs) per disease.
  • Operationalizing real-world evidence (RWE) to generate meaningful evidence in a less burdensome way in complex disease areas with a small population size.

Building a patient engagement infrastructure and designing programs to support rare disease patients beginning at the earliest stages of their treatment journey can help manufacturers solve these and other market challenges and develop a more meaningful relationship with patients and stakeholders.

Many therapy manufacturers operating in the rare disease space are early-stage, small, and mid-cap pharmaceutical manufacturers. These organizations have a lot going on: They could be launching their first product and focusing on branding, clinical messaging, and building an organization. It’s likely they lack time to build an enterprise architecture to drive patient services and engagement. It’s also likely that they lack the capital for such a large endeavor.

When these companies build a product or solution, they don't splurge. Some call it being lean and agile, but that's tech-speak. We call it being “scrappy.” These companies try to de-risk their clinical, technology, and talent investments as much as possible by making the most of the technology and talent capabilities they can afford to bring to the table. This approach can be successfully applied to patient engagement by implementing a “lean digital core” that is cost-efficient, fit for purpose, appropriately sized to match what’s needed at product launch, and that provides a platform for growth as the company’s patient engagement process evolves over time and the brand establishes its position in the competitive marketplace.

Scrappy technology: A lean digital core

The rare diseases therapy market is continuously innovating; therapy manufacturers need a nimble, flexible, and extensible architecture to integrate with third parties, manage the data and insights that drive personalized care, and enable differentiated patient experiences. Future-focused companies are implementing a lean digital core to own the process, own the insights, and own the engagement (figure 1), even when using vendors to deliver select services.

A lean digital core is a centrally owned technology ecosystem that acts as the system of record for all patient journey interactions and engagement workflows. The ConvergeHEALTH Lean Digital Core provides essential capabilities—care coordination, digital experiences, process automation, AI and advanced analytics, device integrations, and real-world evidence (RWE) generation—to drive patient engagement and deliver a human experience.

Figure 1. The lean digital core: Scrappy technology, high quality experience

As the data and analytics backbone to drive insights across the patient landscape, the lean digital core is a cost-efficient, scalable, central aggregator of all digital health data to leverage across the organization, as well as a patient relationship management system to facilitate tailored patient experiences. Its regulated software infrastructure can create an end-to-end patient engagement solution for a rare disease therapy launch by:

  • Enabling multichannel engagement so manufacturers can meet the patient where they are and personalize services to the patient’s needs and preferences.
  • Streamlining the patient journey with inbuilt workflows and automation, and providing traceability starting at the top of the patient engagement funnel and extending through leading indicators of patient adherence.
  • Enabling self-service to empower patients and caregivers to own parts of their journey while feeling supported by human-to-human interactions.
  • Orchestrating proactive and reactive care team interventions by leveraging timely data synchronization through the connected ecosystem.
  • Generating insights into the patient support and digital experience process to drive efficiencies internally while providing a meaningful experience to patients and caregivers and keeping physicians and staff engaged.
  • Providing technology to help manufacturers scale their patient support programs for first launch (rollout services in phases for a drug) and ongoing launches (rollout services for multiple drugs).
  • Enabling regulatory compliance out-of-the-box.

Importantly, the lean digital core not only enables improved patient engagement; it supports therapy companies’ investments—which can be considerable—in marketing and field efforts more broadly.

Delivering on rare disease product launches

Rare disease product launches are very complex; in part because of the typically smaller size of the organizations that launch them. These manufacturers need to be scrappy to accomplish everything within budget and take care not to overspend/overbuild as they go through launch. Also, rare disease communities are tight-knit and trust is their currency, so therapy companies contemplating an entry or expansion should consider the following:

  • Keep engagement and experience top of mind when designing the patient services program. Rare disease patients require a differentiated diagnosis and a more frequent and extended series of touchpoints during their treatment journey. In addition, the level of commitment and intensity placed on every interaction between therapy manufacturer and patient is incredibly high. We’ve seen our clients’ patient services organizations working day-in, day-out on behalf of patients, fighting to get the therapy covered and fighting again to get it renewed.
  • Carefully calibrate the manufacturer’s role in the engagement process. Among important questions to ask: How do we increase disease awareness and education to inform patients and other stakeholders and accelerate diagnosis? How do we ensure that we support each patient who has been diagnosed with this disease and has decided to move forward with treatment? How can we make it easier for them to get on and stay on their therapy? How do we create a seamless experience along the different touchpoints and among the different players—HCPs, health plans, family members, and support community?
  • Develop credibility with stakeholders by demonstrating why the manufacturer is willing to investigate these particular diseases and invest in therapies. There's usually a very strong, closely connected relationship between the manufacturer and disease advocacy groups to deeply understand what the patient needs throughout therapy development, rollout, and treatment. The manufacturer should carefully assess where it is appropriate to take the lead in supporting the patient and when to have a lighter touch and let the advocacy group do so.
  • Look to the future when designing the lean digital core’s patient services capabilities. Identify any gaps in offerings that may be needed to truly own the process, own the insights, and own the engagement in key moments that matter across the challenging journeys of rare disease patients.


1 NIH.
2 Rare Genetic Diseases: Nature’s Experiments on Human Development,” iScience, vol. 23, 2020.
3 Global Rare Disease Commission – Report, 2021.
4 World Economic Forum, 2020.
5 The Lancet Diabetes & Endocrinology, 7(2):75, 2019.
6 Shire, Rare Disease Impact Report, 2013.

Get in touch

Mathias Cousin
Managing Director
Deloitte Consulting LLP

Jadie Rendon
Senior Manager
Deloitte Consulting LLP

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