Based on a survey conducted in January 2016, the Association for Comprehensive Care in Rare Diseases (ACCORD) published two white papers on primary care medicine for patients living with a rare disease. The first paper, based on a survey of 536 primary care providers (PCPs), and described in a previous blog post, concluded PCPs lacked confidence in providing routine care to the rare disease population.

The second paper, titled “How Do Primary Care Clinicians Get Information on Rare Diseases” (available at is based on a follow-up survey of 672 PCPs and specifically characterizes the educational and resource needs around the management of patients with rare disease. The paper demonstrates that although PCPs may lack confidence in managing patients with rare disease, most recognize the importance of improving care and are looking for additional education and tools.

In a 2004 descriptive study published in the Journal of the American Board of Family Medicine, Dr. William Phillips looked at 100 patients with rare diseases in his own family practice to determine the role primary care played. He found in 89% of cases, the PCP was the first to identify the problem, emphasizing the important role PCPs play in recognizing something out of the ordinary and initiating the diagnostic process. The second ACCORD survey showed that PCPs understand the importance of that role: three-quarters of the 672 primary care clinicians surveyed indicated they were interested in learning more about identifying rare diseases. It was the topic most often cited as being relevant to their practice.

Where do Primary Care Practitioners Go For Rare Disease Information?

Once a rare disease is diagnosed, PCPs continue to manage the patient’s everyday medical needs and are increasingly becoming the main point of contact for all patient health issues. So, where do PCPs go to learn about managing primary care in a patient with a rare disease? Survey results showed the majority go online—73% use online medical publications and 72% use online search engines or specific online tools. When questioned further about specific online search methods, clinicians overwhelmingly reported Google as their starting point (86%), with scientific resources such as Medscape and PubMed lagging behind, with 60% and 56% of respondents stating they use these sources most frequently. Search strategies typically began with a search of the suspected or diagnosed rare condition, though some clinicians preferred searching by presenting symptoms. Ninety percent of those surveyed stated the information they obtain from the internet impacts patient management.

It is well recognized that successful communication among health care providers (HCPs) can improve overall patient care. In a perfect world with effective patient-centered medical homes, integrated delivery networks, and smooth transitions of care, a PCP could talk with a specialist when questions arise around the primary care of a patient with a rare disease. In fact, 69% of those surveyed by ACCORD cited communication with specialists as one source of information on primary care in rare diseases. However, ACCORD saw in its first survey that only one-third of HCPs (n=452) define communication with specialists as their primary source of information when treating patients with rare diseases. Over 40% of HCPs from the most recent survey would like to see improved communication with other physicians, institutions, patients, and caregivers. This aligns with the 2013 Shire Rare Disease Impact Report, which found half of HCPs don’t believe there is ample opportunity to network with rare disease specialists, and the majority find it difficult to coordinate care with these specialists.

PCPs were also questioned about patient and caregiver educational resources directed at primary care in rare diseases. Only 41% of those surveyed offer these types of resources for their patients, and of those that do, most use websites or printed materials. Seventy-three percent of those surveyed were satisfied with the websites that they share with their patients, while only about half were satisfied with print materials or advocacy/support group information. Two scenarios are possible: quality resources exist but PCPs aren’t sure how to access them, or resources around primary care in rare disease are lacking and need to be developed.

In this age of information, it is easy to assume that all the data a PCP needs is readily available with the click of a mouse; however, survey data suggests otherwise. PCPs are likely to encounter patients with rare diseases in their practice, and need to be able to access reliable information to make safe and effective treatment decisions around preventive health, managing comorbid chronic conditions, and treating acute conditions. ACCORD used the data presented in both white papers to identify resource gaps that PCPs encounter and to develop content for their upcoming conference: RD1°: Optimizing Primary Care for Patients with Rare Diseases. Taking place June 9-10, 2016, at The Cosmopolitan in Las Vegas, the conference assembles a distinguished faculty of primary health care professionals to address topics such as “Identification of Rare Diseases in the Primary Care, Urgent Care, and Emergency Care Settings,” “Successful Referral Networks,” “Utilizing Tools and Resources to Manage the Whole Patient,” and “Resources for Your Practice: Where to Find the Information and Support You Need.” By encouraging discussion around the best practices for management of primary care in rare diseases, ACCORD hopes to improve the quality of overall care for this large patient population. Additional conference information is available at

Gain a better understanding of how we’re preparing primary care providers to diagnose rare disease in daily practice.