Making a big impact in small patient populations

Ankita Pai | 15 March 2021

One of the most challenging aspects of developing a therapy for a rare disease is identifying patients. Consultant Ankita Pai shares her advice for finding the right patients at the point in their journey and explores how life science companies can stand out from the crowd in competitive markets.

Approximately 85% of rare diseases are genetic, offering significant opportunities to develop better treatments as our understanding of the human genome improves1. Advances in next-generation sequencing have shown that sequencing the whole genomes of large numbers of individuals in a standardized way can improve the diagnosis and treatment of patients with rare diseases.

Scientists have identified responsible genes for approximately 50% of the estimated 7000 rare diseases2. Pharmaceutical companies have long taken notice of this opportunity, developing a wave of therapies that are now entering the market.

FDA data indicates that while the number of orphan designations has been increasing over the last half-decade, the number of unique indications has been decreasing3. Competition has become fiercer, with several companies moving into or doubling down in this space. Smaller biotechs, including Cerecor and Leadiant Biosciences, have also shown interest in niche ultra-rare diseases, defined as impacting fewer than one patient per 50,000 people4,5.

However, often rare disease patients are ignored by doctors, researchers, and the general public. Patients lack support across multiple points in their journey, including diagnosis, misdiagnosis, limited treatment options, lack of comprehensive information, and the absence of support groups.

Empowered patients taking control

The journey from symptom onset to diagnosis takes approximately 4.8 years for a rare disease6. Rare disease patients visit approximately seven healthcare professionals before receiving an accurate diagnosis6. Around 15% of patients seek a second opinion, and 5% have had unnecessary management and care2.

People affected by rare diseases are also impacted socio-economically due to the loss of jobs or having to leave education early, which then impacts their future career prospects.

As competition increases and patient populations become smaller, there is truly no better time than now to upskill in patient identification and acquisition

Patients, their families, and caregivers often face a sense of isolation and neglect, and this drives them to take charge of their conditions. As a result, they tend to handle their own care, form patient support groups, and self-identify funding and engagement opportunities7 – this makes them unique.

As competition increases and patient populations become smaller, there is truly no better time than now to upskill in patient identification and acquisition.

How do you find rare disease patients?

Concentrating on patient identification early in the clinical phases can drive brand loyalty and develop more effective tactics, to address unmet patient needs. It helps ensure that when the patient makes a treatment choice, they choose your brand.

Unlike other better-understood indications, rare disease referral pathways are convoluted. These illnesses are often more challenging to diagnose as the patient can present with multiple symptoms. A different physician will treat each symptom – as these physicians do not work together, it is harder to see the bigger picture, and connections can be missed.7  In many cases, the symptoms can also mimic other diseases, some of which are more common, and this leads to misdiagnoses.

Referral triggers may also be different. As rare diseases are often genetic, triggers can include the diagnosis of a family member, a family member’s suggestion, or even the patient’s self-referral. Mapping the extended stakeholder ecosystem will make it easier to determine drivers for a referral. Life science companies should use a systematic top-down approach, starting with centers of excellence and cascading to primary care physicians. By developing a visual journey map, brands can identify unmet needs and opportunities to make an impact.

With the right predictive model and data resources, it is possible to identify patients hidden in healthcare databases and diagnose certain rare diseases in weeks compared to years

The power of the electronic health record

Although the life sciences industry has traditionally been slow to take up new technology, this has drastically changed during the COVID-19 pandemic. Now, there is increasing interest in developing prediction models capable of identifying rare disease patients in population-scale databases such as electronic health records (EHRs)8.

With the right predictive model and data resources, it is possible to identify patients hidden in healthcare databases and diagnose certain rare diseases in weeks compared to years9. Early collaboration with upcoming technology start-ups to identify patients will ensure life sciences capitalize on this emerging opportunity.

A single source of truth

Patient acquisition focuses on initiating patients on a therapy and addressing patient and stakeholder support needs beyond therapy initiation. The latter is vital in rare diseases.

Rare disease patients and caregivers often require more information about therapy indications. Although many patients and caregivers look for online resources to support their information gathering, they find it difficult to verify the quality of information10. Often, they sift through numerous sources across several channels and piece together the information to educate themselves and the other people in their lives, including primary care physicians in many cases.

As a result, life science companies have the opportunity to act as a single source of truth. One approach is to identify patients’ and stakeholders’ information needs and consolidate high-quality information into a central portal. The portal becomes even more beneficial if it also enables patients to get in touch with additional support, such as healthcare professionals or advocacy groups. In turn, the patient begins to see the brand as a committed partner in their journey.

Support at the right time

Rare disease patients typically have a much closer relationship with the manufacturers of their preferred therapy. Most patients are comfortable with their existing treatment, and it is not easy to convince them to switch11.

Life sciences companies entering into a crowded rare disease market with a therapy that is not clinically differentiated should take a more granular approach to patient segmentation. Identifying specific subgroups who are dissatisfied with not just the treatment but also the company will help you develop a more focused campaign with a better chance of success.

Add real value by developing patient-centric support services. When done correctly, these services should fill a gap in the patient journey, triggering patients to switch to your medication.

Gene therapies are brimming with logistical challenges, so patients and caregivers will need greater handholding across the treatment journey and in post-treatment follow-up

Support services are even more important when treating patients with complex therapies, such as gene therapies. Here the primary concerns for patients are anxieties about access, convenience, and the customer experience12.

Gene therapies are brimming with logistical challenges, so patients and caregivers will need greater handholding across the treatment journey and in post-treatment follow-up. Services can help manage expectations and provide a smooth customer experience, which is crucial during this stressful time for patients and their families.

As patient populations get smaller, differentiation becomes more difficult, so take a laser-focused approach to patient identification and acquisition to reduce barriers to entry. Investing in programs that reduce pain points, particularly in the orphan drug prescription and fulfilment phases, enables a smoother patient experience, so life science companies can become a powerful partner in ensuring rare disease patients feel in control of their condition. But be warned, these initiatives will only work if they fulfill the patient’s unmet needs.


  1. https://www.news-medical.net/news/20200624/Whole-genome-sequencing-can-improve-diagnosis-and-treatment-of-patients-with-rare-diseases.aspx
  2. https://www.intechopen.com/books/rare-diseases/introductory-chapter-advances-in-the-diagnosis-and-management-of-rare-diseases
  3. https://www.accessdata.fda.gov/scripts/opdlisting/oopd/index.cfm
  4. https://ir.alexion.com/static-files/e07be2fa-fb02-43d7-ad00-844e3c66e86f
  5. https://biobuzz.io/five-biotechs-poised-to-advance-their-rare-disease-programs-in-2020/
  6. https://www.shire.com/-/media/shire/shireglobal/shirecom/pdffiles/patient/shire-diagnosis-initiative-pag-leaflet.pdf
  7. https://www.findacure.org.uk/rare-diseases/
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371307/
  9. https://www.physicianspractice.com/view/diagnosing-rare-diseases-ai-and-machine-learning
  10. https://raredisorders.imedpub.com/information-needs-of-people-with-rare-diseases–what-information-do-patients-and-their-relatives-require.php?aid=8837
  11. https://www.proactiveinvestors.co.uk/upload/SponsorFile/File/2019_02/1551350521_Turning-zebras-to-horses—bringing-the-rare-patient-journey-into-sharper-focus—Cello-Health-.pdf
  12. https://www.cellandgene.com/doc/how-cell-and-gene-therapy-is-transforming-healthcare-0001

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