Identifying patients with rare diseases is one thing. Getting them into a pathway of care is something different.
The diagnostic odyssey of those suffering from rare disease is wellknown. The causes range from hidden symptoms to symptoms that mimic more common conditions. Fortunately, many are working to shorten the odyssey and lessen the burden on the patient. With increased awareness and education, the use of genetic testing, AI analysis of longitudinal signals, pattern recognition, etc., more patients are being correctly diagnosed earlier. But then what?
Typically, diagnosis is just one point in time and determining an effective treatment and accessing that treatment typically follow. In more common diseases, those next steps are as wellestablished as knowing that lunch follows breakfast. But in rare diseases, the next steps after diagnosis are often unstructured, underdeveloped, or even unknown creating unique and different challenges from more common diseases.
Some of those challenges include a lack of standardization in diagnosis, whom to consult to secure/support a diagnosis, where care can be accessed and provided, treatment considerations,
therapeutic management and evaluation, and even agreement on outcomes that matter. While there is a best practice methodology in developing clinical practice guidelines, there isn’t a best practice methodology in developing care pathways. This is mostly because of the diversity in how care is organized, practiced, and financed.
Even if there may be functional care pathways, new innovations may require those pathways to adapt and change. This was seen recently with changes to the Sickle Cell Disease care pathways. According to the National Alliance of Sickle Cell Centers, there are approximately 104 locations where patients with sickle cell can be appropriately treated and managed. New advances in gene therapy upended that number. Recently approved treatments from bluebird bio and Vertex require specialized collection training at Qualified Treatment Centers (QTC’s) before patients can start receiving those fundamentally different, paradigmshifting treatments.
A recent report titled “Designing rare disease care pathways in the Republic of Ireland” documented an effort in identifying the many considerations which go into developing rare disease
care pathways, including the frequency of treatment, testing, and monitoring. There will almost certainly be a need for multi-disciplinary teams. This Irish effort developed 29 different rare disease pathways and from there, identified common components across the different pathways.
The common elements include:
• The identification of a clinical lead, particularly in child-onset rare diseases that transition into adulthood
• Creation and endorsement of clinical practice guidelines
• Recommendations on core components, including diagnostic standards and “red flags,” care delivery including required medical disciplines and referral triggers, educational and resources for HCP, staff, and patients
• Delineation between “core” and “as required” disciplines
• Identification of multidisciplinary care team members
• The presence of a care coordinator
• Address the holistic care of the patient/caregiver, including psychosocial needs
While each rare disease is different, these commonalities help in establishing and structuring a care pathway to achieve desired outcomes in human terms. After all, those suffering from rare diseases often didn’t go to medical school. They became experts in their condition because of their experiences in living with it. The diagnostic odyssey may have concluded but receiving care is just beginning.
