What NORD’s RareInsights® 30-year comparative analysis means to us and our clients

Written by Gavin Jones, Jyoti Aggarwal and Dipen Patel on Tuesday 1st December 2020

How fantastic is it to see that the National Organisation for Rare Disorders (NORD) has followed up on a survey undertaken in the late 80’s to pressure test progress and identify key challenges still faced by the rare disease community in the US. This feels even more timely given the current impact of COVID-19 on health systems, families living with rare disease and the predicted future impact on healthcare budgets. In this article we will look at the findings and explain how they influence our solutions to drive better outcomes for patients and clients into the future.

Data collection methods in the surveys reflect the technology widely available at the time and were on roughly similar numbers of patients and proportions of female and male respondents. The results have been segmented into four key areas:

  • Time to diagnosis
  • Access to care and treatment
  • Access to research
  • Financial burden

Time to diagnosis

Despite scientific development, greater healthcare awareness and technological advancements, time to diagnosis remains a significant challenge for people living with rare disease. In 2019 28% of patients report that an accurate diagnosis took longer than seven years. In 1989 15% of respondents said that it took six plus years to get diagnosed. In addition, the recent survey reported that 38% of people surveyed said a misdiagnosis had been part of their odyssey. NORD rightfully points out that having a diagnosis (including genetic variations) opens up better support and access to clinical research. Accurate and early diagnosis, therefore remains the fundamental factor in achieving better outcomes for patients with rare disease. Progress is being made with initiatives like increased new-born screening, a Global Commission and better access to genetic testing but we need to go further and faster. In addition, we believe impact can be made by treatment innovators by:

  • Better connecting communities of physicians through education and hubs
  • Leveraging real-world data and patient experience data (e.g. social listening) to highlight the current diagnostic odyssey, identify best practices and inform predictive algorithms
  • Applying machine learning to drive diagnostic algorithms within healthcare data sources to identify ‘at-risk’ patients
  • Partnering with patient groups and supporting them as a platform to disseminate accurate and relevant information for patients and healthcare professionals
  • Identifying health system needs around testing and counselling inclusive of evidence to support the adoption and reimbursement of genetic and/or specific biomarker testing

Access to care and treatment

One striking part of the most recent survey is the growing prevalence of ‘healthcare migration’ in rare disease; likely driven by differential application by States of the Affordable Care Act (ACA) of 2010. In addition to this there has been a huge increase in the number of orphan treatments granted access by the US Food and Drug Administration (FDA) (862 vs 46) but this hasn’t always translated into access to treatments or specialists. 61% of respondents reported that they have been denied or experienced delays in treatment access and 18% were unable to access a specialist physician. It’s also clear that disparities widen in lower income groups. For innovators bringing orphan treatments to market, we recommend that they apply the following market access strategies to help enable broad and sustained patient access:

  • Partner with patient advocacy groups to understand and address potential disparities in healthcare delivery and challenges that patients and their caregivers might face
  • Support educational programs, platforms or collaborative networks that empower community physicians to engage with physician experts and clinical centers of excellence directly and provide care to patients at a distance
  • Generate and disseminate comparative effectiveness evidence, when available, to highlight the value of new therapies and raise awareness across stakeholders and support access and adoption
  • Generate evidence to inform the adoption and reimbursement of “supportive technologies” (e.g., digital health technologies and telemedicine) to improve the ability to provide patient care from a distance

Access to research

It is welcome to see a growing engagement with clinical research amongst the patient community. In 2019, 88% of patients reported being willing to take an investigational drug compared to 62% in 1989. An area positively highlighted by NORD is the growing awareness and participation in natural history and registry studies. It is noted that these programs drive greater disease and awareness and have the potential to accelerate treatment development. To maximise this constructive direction of travel we recommend innovators:

  • Engage the patient community as early as possible in drug discovery and development
  • Co-identify and develop the most appropriate patient reported outcomes tools through all research programs
  • Leverage real-world data to identify patients and facilitate clinical trial recruitment
  • Identify opportunities to facilitate data linkages and data aggregation to provide a comprehensive overview of disease burden
  • Enable patient engagement in registries with the application of technology and thoughtful communications reducing friction of participation

Financial Burden

This continues to be a key factor for families living with a rare disease. Extreme burden has reduced over the last 30 years but 76% of respondents report that they experience financial challenges. This looks to be exacerbated by a very high proportion of 2019 respondents indicating that they have missed work due to the impact of their rare disease. Proving long term value of new treatments will continue to grow in importance particularly as potential one-time treatments will encourage new payment plans for health insurers. We recommend innovators:

  • Collaborate closely with the rare disease community to fully establish the clinical, economic, and humanistic burden of disease
  • Engage with and educate payers early with respect to the condition and patient unmet needs using pre-approval communication channels such that payers can adequately plan for the availability of a new treatment
  • Support Patient and Copay Assistance Programs to ensure early and equal access to treatment and to minimize treatment disruption when clinical trials end
  • Consider alternative payment models and work in partnership with providers and payers to assure timely and uninterrupted access to care
  • Enable programs that facilitate effective long term outcomes follow up over many years

In conclusion

Its clear progress has been made in the last 30 years for people living with rare disease in the US but there is so much more work to be done. These efforts will commence within a post COVID landscape scarred by its brutal effects on health systems and the economy. However, we remain optimistic of significant progress in the next thirty years. This hope and expectation is driven by the further advancement of health technologies, including rapidly emerging gene therapies, but also far greater levels of stakeholder collaboration.

We are seeing many more examples of better connectivity and co-working between stakeholder groups in the rare disease community and this must continue to build in momentum. Given such unmet need in rare disease; this sector should lead the way in collaborative working with the joint objective of delivering better outcomes for patients and families living with rare disease. We must also effectively engage the younger community of advocates, researchers, physicians and executives and mobilise a brighter future and a far improved picture when this survey reaches the grand old age of ninety.

We are dedicated to playing our part in improving outcomes and are ready and equipped to effectively connect and collaborate with stakeholders across the rare disease community to make impact.


For information about OPEN Health’s services and how we could support you, please get in touch.


Visit our careers page to view opportunities at OPEN Health.