The hunt for accurate, expeditious diagnoses for people with rare diseases

Rare diseases are challenging before and after they are diagnosed; however, the burden posed on patients, caregivers and healthcare providers while searching for a diagnosis may be even more significant. In fact, a recent study determined that an average of 17 interactions with the U.S. healthcare system are needed to arrive at a proper diagnosis for a person with a rare disease.¹ This is not sustainable for patients, caregivers or healthcare providers, and solutions must be found.

We spoke with one patient who faced a multi-year path to diagnosis of their rare condition. While the patient was quickly diagnosed with chronic lymphocytic leukemia (CLL), a rare cancer, their troubles truly began a few years into treatment when they began to suffer recurring infections as a result of their CLL. The patient faced the constant worry of a new infection or sickness arising, and as a result avoided things like public transportation and travel. After five difficult years spent not understanding what was happening within their body, why it was happening or how to manage their symptoms, the patient was diagnosed with an immunodeficiency disorder. Upon diagnosis, the patient worked with their doctors to find a treatment plan that worked for them and felt a sense of normalcy return.

While this patient eventually received a diagnosis, not all patients have the same experience when learning of their rare disease. In the U.S, it takes an average of six years after symptom onset for a patient to receive an accurate diagnosis, often leading to delayed treatment or even ineffective treatment plans in cases where their care teams believe they are suffering from a different condition.²

Patients like this, as well as their care teams, are the reason why Takeda, along with leaders and experts at Amyloidosis Research Consortium (ARC), EveryLife Foundation for Rare Diseases (EveryLife), National Organization for Rare Disorders (NORD) and Parent Project Muscular Dystrophy (PPMD), are committed to new policy solutions designed to address persistent and long-standing barriers that contribute to an ongoing cycle of missed or delayed diagnosis and treatment for patients. These efforts focus on three main opportunities:

• Widespread and equitable access to genetic screening, including newborn screening and genomic sequencing: Expanded access to genetic screening can speed diagnosis for people living with a rare disease, securing a better window of opportunity to intervene before irreversible when possible damage to health occurs and reducing the economic burden on our health care system.
• Investment in centralized and specialized rare disease care through Centers of Excellence (Centers) and Networks of Care (Networks): Centers and Networks, whether specializing in rare diseases generally or in a subset of disorders, offer undiagnosed patients a direct pathway into the health care system, where targeted testing and expert medical staff help identify rare conditions more readily.³
• Improvement in the data landscape through standardization, centralization and appropriate sharing and collaboration: Given the small number of individuals affected by any one rare disease, as well as the lack of centralization and standardization of the limited data that do exist, there is a dearth of high quality data to support disease diagnosis. Data centralization and sharing expand the value of existing data on rare diseases, helping to overcome these challenges.

While these opportunities are currently focused on U.S. policy change, we hope to expand our efforts around the world to collaborate with patients, caregivers and advocates as well as medical communities, academic, private and public institutions to improve health outcomes for people living with rare diseases. Teamwork among these groups is possible, and will be essential to make a lasting, meaningful impact.

Read more of our Rare Disease Day 2022 stories here.