Helping Rare Disease Patients: A Conversation with Dr. Neilan about the Rare Disease Centers of Excellence Program

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In November, NORD announced the launch of its Rare Disease Centers of Excellence program, which aims to improve medical care for people living with rare diseases. The program has ambitious goals, including to help to shorten the time to diagnosis, to inform and establish treatment protocols where they do not currently exist, to facilitate more equitable access to medical specialists, to advance research, and more.

The below is a conversation with Dr. Ed Neilan, Chief Medical and Scientific Officer at NORD, who oversees the program. The interview has been edited for length and clarity.

1. What is the goal behind NORD’s Rare Disease Centers of Excellence network?

The program is a game-changer for rare diseases and has the potential to transform the rare disease patient journey as we know it. When you look at the state of rare disease care today, it often takes years for patients to be accurately diagnosed, after visiting numerous specialists and sometimes receiving misdiagnoses, all while their illnesses progress, sometimes past the point of helpful intervention. The current health care system is not well designed to recognize and diagnose rare diseases. NORD wants to change that.

2. How does the program work?

This is the first and only designation program for centers serving the larger rare disease community, which includes approximately 7,000 rare diseases. The Centers of Excellence program offers patients access to cutting-edge health technologies and actively promotes interdisciplinary collaboration under one roof. Patients can be referred to a Rare Disease Center of Excellence when they need help with diagnosis, for treatment recommendations, or to have the center serve as multispecialty “medical home for their rare disease care, while maintaining communication and coordination with their local physician(s). There is also a multiplying effect, because the centers work together as a network to share expertise and collaborate on difficult cases and learning opportunities. Because of the commitment of everyone involved in this exciting program, we believe we are creating a national network that can offer rare disease patients access to the best possible medical care, no matter where they live in the United States.

As someone who has treated rare disease patients and run rare disease research for many years, I see how much potential this program has to address unmet needs in the rare disease community. First, for patients who feel they are not getting the answers they need, I see NORD’s designation of a nationwide network of Rare Disease Centers of Excellence as a powerful step toward helping those patients find high-capability institutions where it may be appropriate for them to seek second opinions, expert consultations, specialized treatment teams, or engagement with researchers working on their specific conditions. Second, these Centers of Excellence are going to work together on collaborative projects to advance the state of rare disease care and research, to move the field forward. We are honored to be leading this program on behalf of everyone involved as they work to improve rare disease patients’ health.

3. Let’s pause there for a minute. Explain how NORD’s Center of Excellence program seeks to change the field of rare disease care.

One of the reasons that NORD developed this program is that most of the approximately 7,000 rare diseases lack formal treatment guidelines or protocols, leaving millions of rare disease patients and their clinicians without access to definitive information about how to best manage patient health. We want to change that by pooling the expertise of specialists across the network to identify the best existing treatment guidelines or develop new guidelines where there are currently none. Similarly, we will facilitate the sharing of diagnostic expertise across the Centers of Excellence to help solve difficult cases and shorten the “diagnostic odyssey” of these patients. Part of the uncertainty in the diagnosis and treatment of rare diseases comes from the lack of a full understanding of the features and progression of rare diseases. This calls for more collaboration and research to learn the extent and natural history of these disorders.

Our approach isimilar to the philosophy behind patient-driven research and natural history studies, where we are systematically capturing patient data and applying science to each person’s rare disease experience. This type of information is powerful. When you collect and aggregate this data, you can change what we know and move science forward at a rapid pace. We are taking this same concept and applying it to improving what we know about rare disease medical care. The best diagnostic algorithms and treatment protocols that come out of our Centers of Excellence program will eventually be used around the country and the world and will inform both clinical education and awareness of rare diseases.

4. How does NORD’s program differ from existing centers of excellence for specific rare diseases, such as cystic fibrosis, muscular dystrophy, ALS and certain cancers?

That is a great question! For some specific rare diseases, as your question implies, there are already some networks of centers of excellence that have been designated by other, disease-specific organizations. Those centers are doing great things to help their patients, and we do not intend to duplicate or “compete” with those programs. In fact, we are very pleased that many of the institutions where we are establishing generalized NORD Rare Disease Centers of Excellence are already home to clinics recognized as centers of excellence for specific diseases; we hope to continue to learn from those programs, in synergy, without detracting from them. Our network is designed to provide a medical resource for patients whose rare diseases do not yet have a designated care center.

5. Will genetic testing be offered at NORD’s Centers of Excellences?

Approximately 70-80% of rare diseases are genetic in origin, so certainly there is an opportunity to focus on genetic testing in our diagnostic protocols. Each center has genetic testing capabilities, on site or through local relationships, which will facilitate access to genetic testing. This was important to NORD as we set the criteria for what would constitute a Rare Disease Center of Excellence. Currently in the United States, there are widespread barriers to patients being able to access genetic testing in a timely manner, which included but are not limited to gaps in insurance coverage, shortages of medical geneticists and other healthcare providers trained in genetics, long wait times for appointments, and gaps in our knowledge as new genetic disorders continue to be discovered. The Rare Disease Centers of Excellence program aims to address those barriers for patients. I am really excited for the potential insights we could uncover when it comes to rare diseases and genetic testing. This could have implications for helping to advance the state of rare disease care and may also inform the work that NORD’s policy team undertakes regarding patient access to genetic testing, such as advocating for broader and easier health insurance coverage for appropriate genetic testing.

In addition to genetic testing, the network will also strive to leverage other new technologies, such as artificial intelligence, or AI, to recognize symptoms based on medical records, patient-reported data and genetics data, to offer the best diagnostic opportunities for rare diseases.

6. Are the Rare Disease Centers of Excellence planning to conduct research?

Conducting and producing research is a goal of the program. By cataloging the special areas of clinical expertise and the individual research interests of the many highly skilled and multidisciplinary faculty working with rare diseases across our centers, as a whole, we aim to spark and to facilitate collaborations between likeminded faculty across the network and between those who may already be treating patients with the same very rare, and often poorly understood diseases, without knowing how many such patients are being seen, or where they are being seen, and therefore not being able to share information and accelerate progress in the field.

There is also a tremendous potential to conduct clinical trials across the network. We intend to lower the current barriers to establishing multicenter clinical trials by building collaborative connections between the institutions hosting the NORD Rare Disease Centers of Excellence, to coordinate (through NORD when appropriate) funding for such research, and to implement best practices including patient-focused and flexible study designs. In particular, we’ve seen during the pandemic an increased interest in pharmaceutical companies and other sponsors running fully or partialized decentralized clinical trials, and with the NORD Rare Disease Centers of Excellence acting as hubs across the country, we should, through a variety of means, be able to increase access for patients to participate in research.

7. What are your goals for the program in its first year?

 Our first work will be to interconnect NORD and the newly designated NORD Rare Disease Centers of Excellence in a shared culture that is strongly collaborative and is supported by critical resources for coordination of work across institutions, such as a well-organized schedule of case conferences, advisory meetings, and an IT infrastructure that enables easy collaboration amongst busy experts at multiple sites. We also expect to involve rare disease patient advocates in advisory roles, alongside academics, to ensure effective attention to the multiple and broad unmet needs in the rare disease community. Undoubtedly then, we’ll also start to see real advances in rare disease clinical care and research. So, a year from now, I also hope and expect to tell you stories and share case studies of how we have helped patients on their rare disease journey, that we are starting to identify ways to diagnose rare diseases faster and with greater accuracy, and show data on how the Rare Disease Centers of Excellence network is breaking down barriers that patients face. For example, too often rare disease patients face geographical barriers, or financial barriers due to travel expenses and missing work, for appointments with experts.  Let’s make sure we break down those barriers. Let’s have clinicians across the country coming together to solve some of the persistent medical challenges that we have seen in rare diseases. Let’s put together care standards and help as many rare disease patients as we can.

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