Patients with rare diseases are anxious to find a cure, yet roughly only half ever receive a proper diagnosis. Many of these patients return to their primary care providers (PCPs) frustrated. There has often been little support available to PCPs looking to help these patients. That’s why the National Organization for Rare Disorders (NORD) recently partnered with Children’s National Hospital and PlatformQ Health to produce a four-part educational series to aid these providers with:

  • Rare disease diagnosis and testing strategies
  • Culturally competent care in communities
  • Creation of a patient-centered, medical rare disease home
  • Support mechanisms for providers of rare disease care

“There’s a perception that doctors are supposed to be perfect and know everything, like you see on TV,” explains Debra S. Regier, MD PhD, Director of the Medical Genetics Residency Program Children’s National Hospital. “What we’ve found is that providers really love their patients and want to do right by them, but it can be overwhelming dealing with the complexities of rare disorders and figuring out how to handle so many unknowns. We wanted to develop a program to help them be better equipped to ‘stand in the gap’ of these unknowns with their patients. This is an opportunity for providers to hear from specialists so they don’t feel so alone in this journey.”

“The program empowers primary healthcare professionals who may be the frontline clinicians to encounter patients with rare conditions,” says National Organization for Rare Disorders Associate Director of Education Katie Kowalski, MPH. “It provides valuable and accessible education on appropriate screening for rare diseases and appropriate referrals to specialists. Primary healthcare professionals can play a critical role by collaborating with specialists while continuing to monitor and care for the overall health and well-being of people living with rare diseases.” 

Primary care providers, advanced practice providers, pharmacists, and dietitians who care for rare disease patients participated in the live program to increase their knowledge of genetic and non-genetic testing for patients undergoing a diagnostic odyssey. Building on this foundational knowledge, learners then had the opportunity to explore related issues, such as understanding the unique medical and psychosocial needs of patients with rare diseases, and understanding the needs of underrepresented populations in rare disease care. The program is now available on-demand through 

Program details

In the first session, Dr. Regier sought to demystify the process of using genetic testing to diagnose a patient with a complex set of symptoms. There’s no simple one-size-fits-all when it comes to these tests. The provider needs to understand why they’re doing the test and what the potential results may be. Discussing these ahead of time with a genomics specialist is often valuable.

Having an open dialogue between the PCP and specialist can be quite meaningful. “You can send as many records as you want but sometimes a five-minute conversation with a specialist is so much more effective,” says Dr. Regier. 

Another key part of the program addressed physician burnout. “There’s beauty and importance in medicine to have time away from patients,” explains Dr. Regier. “It can be scary to step away, especially in really complex cases, but you can’t care for others well if you don’t set boundaries and care for yourself. That may mean having time that is just yours to take a nap on a Sunday or get a break from email.”

During the session about culturally competent care, program faculty also discussed perceptions of rare disease in different cultures, and how providers can best work with patients and their families to understand their individual beliefs and concerns. “What’s most important is that we listen to the family and hear where they’re coming from,” said Dr. Reiger. “There may be cultural differences in how they perceive a disease. For some people, knowing the exact genetic change is meaningful and for others, they really care most about how to improve their child’s quality of life.”

Valuable resources

Recognizing the time pressures PCPs face, Dr. Regier and her colleagues created what they refer to as “fingertip” resources. This includes GeneReviews, which are point-of-care resources that provide actionable information to help guide providers in diagnosis and management of genetic disorders. “If a provider has just three minutes before seeing a patient, we want to give them access to credible, easy-to-access information that will help them in that scenario,” she says.

Program outcomes

262 learners participated in the program, 56 percent of whom were MDs, NPS, or PAs. Through post-session polling, 96 percent of learners stated the education will improve their practice knowledge while 89 percent said it will change their practice behavior. Outcome results and participant questions suggest there will be added value to ongoing education focused on topics such as the benefits and risks of genetic testing,working with genetic specialists, and establishing boundaries when working with rare disease patients.

NORD will continue to promote the four-part accredited series through July 2025 and will work to expand foundational professional education about diagnosis and treatment of rare disorders. Building on this work, Dr. Regier is working with the NORD Rare Disease Centers of Excellence program to enable these centers to serve as information hubs where more of these conversations between providers and specialists can occur. Ultimately, this will help support both providers and patients in the diagnostic and treatment odyssey of rare diseases.

“Providing rare disease education for primary and family healthcare professionals can help relieve the often long and arduous diagnostic odyssey and improve care for patients closer to home through a collaborative care model with rare disease specialists,” says Kowakski.

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