The Association for Comprehensive Care in Rare Diseases (ACCORD) recently conducted a novel survey around primary care in patients with rare diseases. To better understand physicians’ viewpoint on the topic, the team at ACCORD conducted a survey of 536 clinicians who reported having at least one patient in their practice who received care from a specialist for a rare disease. These clinicians were asked questions relating to their knowledge and confidence level in providing routine medical care for patients with rare diseases, and results were summarized in a white paper that included input from faculty members representing physicians, nurses, nurse practitioners, physician assistants, and pharmacists.

Overall, the clinicians surveyed felt there was a knowledge gap surrounding best practices for routine care of patients with rare diseases. Seventy-one percent of those responding stated they had no standardized protocols for managing patients living with a rare disease.  When asked to rate their confidence levels in providing care for unrelated health issues, vaccines, interpreting lab results, refilling prescriptions recommended by a specialist, or managing medication side effects, almost half of respondents rated their confidence level as 3 or lower on a scale of 1 to 5 (1 = not at all confident; 5 = highly confident).

ACCORD is hosting a two-day conference, “Optimizing Primary Care for Patients with Rare Diseases,” June 9th and 10th in Las Vegas.

Of note, 27 percent of clinicians who chose to respond to this survey identified themselves as specialists: rheumatologists, pulmonologists, oncologists/hematologists, gastroenterologists, or dermatologists (an additional 17 percent identified themselves as “other”). Specialists are typically perceived as those with a solid handle on managing all aspects of rare disease, but survey results indicate that rare diseases pose a challenge in this subgroup as well.

Primary Care Providers and Rare Diseases

While practice guidelines exist to address primary care in patients with common chronic conditions, there is little published evidence addressing the everyday health care of those with comorbid complex rare conditions. This could be because the populations affected by each rare disease are small (<200,000 per US definition). However, there are 7,000 rare diseases recognized by the National Institutes of Health, and when rare diseases are viewed as a whole, their prevalence rate is 10 percent. A 2013 study by Engel et al assessing patient and physician perceptions regarding physician training in rare diseases included 246 PCPs, and these practitioners reported seeing an average of 12.7 patients diagnosed with a rare disease and another 1.6 with a rare disease in the process of being diagnosed. With the trend toward patient-centered medical homes and accountable care organizations focusing on the role of the PCP, PCPs can safely assume they will be called on to treat patients with an underlying rare disease at some point in their careers.

Understandably, PCPs in the Engel study were likely to refer patients with rare disease symptoms to a specialist (64.6%) or to consult with a “disease expert” (23.1%) to diagnose and treat, but ACCORD recognized that each of these patients would likely need to return to their PCP for routine health care matters such as vaccines, common infections, preventive health screenings, or management of a chronic condition such as hypertension. It is also likely they will require urgent care or emergency care for an acute illness or trauma at some point. Once these patients have been diagnosed with a rare disease, how comfortable are their PCPs or emergency care/urgent care clinicians in providing care? Are the common, but by no means inconsequential, health needs of these patients being optimally managed? Who should a patient with a rare disease call if they need treatment for otitis media or a prescription for an oral contraceptive? ACCORD survey results suggest that health care providers struggle with these questions, and most would like to dive deeper into the solutions.

With rare diseases being common in primary care, an avenue is needed for professionals to achieve the same confidence in treating patients with comorbid rare disease that they have when treating the general population. While all faculty members reviewing the ACCORD survey data agreed that collaboration with specialists is vital to treating patients with rare diseases, only 34% of survey respondents cited communication with specialists as their main source of current information; 29% cited online medical publications, and 23% cited “websites” in general. Over two-thirds of those surveyed expressed interest in training specific to rare disease topics. ACCORD hopes to raise awareness of this educational gap and encourage all rare disease stakeholders to focus on coordinated care of the whole patient to ensure optimal outcomes.

There is much conversation around the Institute for Healthcare Improvement’s Triple Aim of providing the best experience of care for health populations at the lowest cost. The rare disease community can be viewed as one large patient population, and IHI stresses the need to “ensure a seamless journey through the whole system of care throughout a person’s life.” Primary care is at the heart of this, and to effectively address the needs of this large population, it is time to recognize and implement what can be done to optimize primary care in rare disease. ACCORD is holding a first-of-its-kind CME conference in in Las Vegas in June to begin this important discussion.

Learn more about how we’re preparing primary care physicians to address rare diseases.