Accelerating Diagnosis in Rare Disease

Written by Gavin Jones on Monday 29th April 2019

Timely diagnosis in rare disease is one of the fundamental unmet needs for patients, Healthcare Professionals (HCPs) and BioPharma. Patients wait an average of 4.8 years and visit over seven physicians before an accurate diagnosis is made.1

Diagnosis of rare diseases is challenging; physicians may only see a handful of cases in their career and information surrounding them is often lacking or difficult to access. Clearly defined diagnosis and referral pathways are either dysfunctional or non-existent. This leads to patients living with undiagnosed conditions, which can lead to confusion, frustration and emotional distress. A diagnosis at least provides an answer as to why the patient has been suffering, often leading to relief, and offers a focal point for accessing treatments (licenced or in clinical development) and supportive services.

Recognition of this issue has led to a number of initiatives, most recently the alliance between EURORDIS, Shire and Microsoft. Despite progress in this area, there is still more than can be done. With the emergence of an increasing number of therapies in rare disease, biopharmaceutical companies have a real opportunity to work in true partnership with HCPs, payers and healthcare systems to accelerate diagnosis and increase uptake of innovative treatments.

Companies can help raise disease awareness by engaging with key opinion leaders (KOLs) and driving impactful campaigns using a multi-channel communication approach. Scientific meetings are a valued source of learning among HCPs as they allow for updates on the latest research and interaction with KOLs. Companies can support these by ensuring that content is memorable, engaging and leaves the audience with key messages that will positively affect their clinical practice. Meetings, whether local or international, allow HCPs to interact with experts and facilitate knowledge transfer regarding best practice in diagnosis and referral. Involving patients in these meetings can provide their perspective and help the HCP better understand the patient experience.

However, as referring and prescribing doctors in rare disease can be small in number and geographically spread, companies can also look to digital initiatives. In addition to activities such as educational and topical webinars, ‘virtual multidisciplinary teams (MDTs)’ are often a way of bringing together both experts and interested HCPs from disparate geographies to discuss learnings from challenging cases. Online learning platforms with interactive and engaging content can quickly provide audiences with key information, and Independent Medical Education activities offer a route to inform HCPs on broad aspects of rare diseases in a balanced, non-promotional manner.

Companies can also help produce practical materials that summarise key information in a succinct way, to serve as a reference for instructing physicians on how to manage or refer patients as appropriate. Patients themselves can also be empowered to become ‘experts in their disease’, and utilise information developed by the patient advocacy groups, often in collaboration with biopharmaceutical companies. Companies can help here through appropriate engagement of these groups and facilitation with KOLs and other MDT members to ensure the information is complete and relevant.

On top of communicating effectively with KOLs, the wider MDT, and patient advocacy groups, companies can have a positive impact by helping improve patient pathways. Healthcare systems recognise this unmet need, but may not have the capacity or available skills to make the change alone. Through effective and appropriate collaboration, companies can be involved in each stage of the pathway improvement process. For example, companies could help healthcare systems understand their current pathway through tools like health resource utilisation analysis and time and motion studies. This will provide a baseline and create a ‘case for change’ by highlighting blocks and inefficiencies within the current referral and diagnostic pathway. In terms of generating impactful change, companies can assist by developing KOL/payer consensus on what an optimal pathway looks like and communicating this across the MDT to ensure everyone is aware of the role they have to play in its delivery. Following this, further analysis can be undertaken to assess impact, and toolkits can be developed to facilitate other sites in implementing similar changes.

By utilising the initiatives above, biopharmaceutical companies can drive effective partnerships and improve outcomes for all stakeholders and patients in the area of rare disease.


1. Patti A et al. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger education initiative for physicians. Journal of Rare Disorders 2013:1:1–15.


For more information on how your company can support accelerated diagnosis, please get in touch.


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