For many rare diseases, progress towards the development of new therapies and cures is stymied by several factors, including a lack of disease understanding compounded by small patient populations, challenges to correctly diagnose and identify patients for trials, a lack of clearly defined clinical endpoints, and difficulties in leveraging real world data due to poor data standardization for key rare disease characteristics.

Thankfully, patient advocacy organizations can play a critical role overcoming these obstacles. In this series of blog posts, we will dive into each of these challenges in turn and examine the ways in which patient organizations can and have used their unique position as conveners, advocates, and data stewards to help elevate the voice of the patient and accelerate the development of new therapies that meet patients’ needs.

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In this article, we will focus on the role rare disease patient organizations can play in the development of data standards and the adoption of these standards within clinical practice.

The Problem

There is considerable variability in the type of data and specific variables collected within rare diseases, due in part to the lack of specific data standards and disease heterogeneity, which complicates diagnosis, categorization, and data collection.

Often with rare diseases certain valuable data might not be collected as standard of care due to the diversity and limited understanding of rare diseases. The capture of comprehensive clinical summaries for rare disease patients is important, because patients typically receive care from many providers and move frequently within health care settings. The insufficient capture and transmission of information after diagnosis for rare diseases contributes to gaps in care during transitions.

The downstream implications of missing data, unstructured data and variability of data captured impacts the availability of high-quality data for real-world evidence in clinical research and regulatory submissions. The absence of standardized data, results in the need for retrospective quality review through manual methods such as chart review, or by extracting unstructured data metrics and transforming them into discrete variables using artificial intelligence and/or machine learning. However, these methods of data extraction are resource-intensive development efforts that can be costly for many organizations.

Common data elements (CDEs) were introduced to enable better data standardization. Common data elements include several attributes, and may include a question (e.g., “What is the patient’s age?), data type, unit of measure and for some a list of allowable values. CDEs may be general, and broadly used across disease or therapeutic areas, or they can be disease specific. CDEs are one type of health data standard. There are many types of data standards that structure, organize and exchange health data. The Office of the National Coordinator (ONC) adopted the U.S. Core Data for Interoperability (USCDI) as the content standard for the 21st Century Cures Act. Since then, the NIH has encouraged clinical research programs and researchers to adopt the USCDI standards. The USCDI is a standardized set of health data elements that all modern health IT systems are expected to support. However, these clinical data standards might not have established datasets or only cover a fraction of a dataset necessary for the relevant rare disease.

How Patient Advocacy Organizations Can Support

Patient organizations can play an important role in the development and adoption of data standards. Patient organizations can pilot a continuous improvement approach for the development, implementation, and adoption of disease-specific data standards. As these disease-specific data standards are put in use, it benefits the research community by reducing the cost and time needed for chart reviews and the manual extraction of clinical data to answer key research questions. This will later enhance the value of the data being collected by patient registries.

The Development of Data Standards

Standards development can be a big undertaking for patient organizations, due to the high costs and resource time needed. In addition, the transition to a new standard can require a large investment of time and resources on behalf of the patient advocacy organization to map a registry’s existing data elements to the new ones. Before developing new data element standards, organizations should consider existing standards efforts within their disease area and use these as a starting point. If data element standards are not readily available for a disease area, there is the opportunity for patient organizations to form partnerships and collaborations within their respective disease area for the development of new standards. When developing data standards, patient organizations and multiple stakeholders (e.g., life sciences partners, clinical key opinion leaders, researchers, medical specialty societies and independent standard development organizations) should align on key use cases, identify the data elements needed to support these use cases and agree on the best way to capture these elements in a usable and user-friendly way. Patient organizations can facilitate consensus-building by acting as a convener of different stakeholders, by focusing on use cases of shared interest, and by encouraging the use of existing standards wherever possible to avoid re-inventing the wheel.

The Adoption of Data Standards

Once the standard data elements are developed, they then need to be shared and adopted within the provider community. Eventually, the goal is to have standards adopted into future versions of USCDI guidelines, so that providers are mandated to collect these data elements in a structured format. This requires considerable time and proven adoption within the community. Patient organizations can leverage their provider networks to encourage the adoption of data standards within clinical practice and to disseminate relevant publications and other information about the standards. Outside of training, communications, and outreach there is the recommendation to have prompts in real time to let providers know what data they need to capture.

Adoption of these standards within provider workflow takes time, but in the interim patient organizations can provide simple tools and resources, such as ‘patient passports’, to empower patients to share with their provider what information should be captured. This can be particularly valuable for patients who are seen by providers that don’t have a sizeable number of patients with the same rare disease, and therefore are less likely to have awareness and knowledge within the disease area. While not intended to replace clinical assessment by the provider, the ‘patient passport’, as well as other types of patient support and education programs, can help serve as a helpful prompt to better facilitate data capture and ensure certain questions on the patient’s disease progression are being asked and documented.

There is also the availability of technology and tooling to support data capture. For example, patient organizations can support the selection of a few key sites with a concentrated patient population in the disease area (for example, centers of excellence and/or institutions connected with their external KOL leadership) to adopt and integrate the standard data elements into their EHR data and user interfaces. Smart Forms within a health system’s EHR can be developed to be disease-specific and can capture critical data elements for reporting and create a more intuitive experience for the provider, so that important data is not missed and is captured in a structured format.

Before moving to wider adoption, it is important to monitor the usage of the standards and gather provider feedback. If adoption of the tools and resources promoting the new standards are low, seek provider feedback and adjust if there are founded concerns. Please note that the process of standards development, refinement, and adoption is a time-intensive and iterative process that can span many years.

The Incorporation of Data Standards Within USCDI

After a proven level of existing standards adoption in the community, the desired outcome for patient advocacy organizations is the incorporation of developed data standards within future versions of the USCDI. While it is a long, time-consuming process from data standards conception to final publication, the benefits are well worth it to promote the widespread, nationwide adoption of data elements within clinical practice.

For more information on how patient advocacy organizations can support the development and adoption of data standards, please contact Alexandra Weiss, Director, Strategic Operations, Patient Advocacy at alexandra.weiss@iqvia.com.

About the Authors

Harvey Jenner, Principal, IQVIA Real World Networks

In his current role, Harvey leverages his scientific background and healthcare consulting experience to assist medical specialty societies and patient advocacy organizations to enhance their data-driven capabilities, provide sustainable registry value, develop research offerings, and navigate the complex data governance of multiple registries.
Harvey has been with IQVIA for 7 years, managing large, global projects for pharmaceutical companies, providers, and other healthcare organizations.  Prior roles include data and evidence strategy and implementation roles in Real World Analytics Solutions. He has a BSc in Biology from Imperial College London. Harvey is based in San Francisco, California.

Meggie Hotard, MPH, Manager, IQVIA Healthcare Solutions

Meggie recently joined the IQVIA Healthcare Solutions team to advise medical specialty societies and patient advocacy organizations in their registry operations, and support organizations in leveraging their registries to meet their wider data strategies. Prior to joining IQVIA, Meggie spent 6 years in healthcare and life sciences management consulting working with providers, payers, and medical specialty societies.
Meggie received a Master’s in Public Health from Boston University and a BS in Cell Biology and Molecular Genetics from the University of Maryland. She is currently based in Washington, D.C.

Alexandra Weiss, Director of Strategic Operations, Patient Advocacy, IQVIA Healthcare Solutions

Alexandra Weiss has extensive background in patient advocacy and is a patient and caregiver advocate herself. Alex leverages her insights and knowledge to strategize and implement solutions for clients, enabling mission-driven capabilities through advocacy-led health data and research initiatives. Prior to joining the IQVIA team, she spent over six years leading industry relations and engagement for an oncology patient advocacy organization. During that time, she worked closely on the organization’s Scientific & Medical Initiatives, raised significant funds to drive progress, and represented the patient voice for industry hosted initiatives. Alex serves as the chair of her local hospital’s cancer institute board where she has been an active member for five years. She has spent over a decade in philanthropic leadership roles.
Alex has a BA in Psychology from Southern Methodist University. She is currently based in Long Beach, California.

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³. DonFrancesco, Valaree. “CDISC and NORD Partner to Develop Data Standards for Rare Diseases.” National Organization for Rare Disorders (2021). https://rarediseases.org/cdisc-and-nord-partner-to-develop-data-standards-for-rare-diseases/

⁴. Gliklich RE, Leavy MB, Dreyer NA (sr eds). Registries for Evaluating Patient Outcomes: A User’s Guide. 4th ed. (Prepared by L&M Policy Research, LLC, under Contract No. 290-2014-00004-C with partners OM1 and IQVIA) AHRQ Publication No. 19(20)- EHC020. Rockville, MD: Agency for Healthcare Research and Quality; September 2020. Posted final reports are located on the Effective Health Care Program search page. DOI: https://doi.org/10.23970/AHRQEPCREGISTRIES4.