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Swii.ch Health - Digital evolution in rare disease a call for collaboration

Digital Evolution in Rare Disease- A Call for Collaboration

It is well established that both the non-specific symptoms of rare diseases and the lack of overall awareness among physicians contribute to the diagnostic challenges that patients face. The net result is that it can take more than 6 years and visits to 7 different specialists for a patient with a rare disease to receive a final diagnosis. And still, the majority of patients with rare diseases remain undiagnosed regardless of the nature of the therapeutic area.

Despite these well documented challenges, it is surprising to note that up until now there has been very little focus on meeting them head on through digital innovation. In contrast to more common conditions where we have seen considerable activity to encourage innovation with well- funded and highly publicised activities. One of these saw Pfizer open up its Healthcare Hub in London in 2017 which is a part of a global network of Pfizer innovation hubs located in Berlin, Stockholm, Sydney, North America and Tel Aviv2,3

Similar initiatives have been driven by Leo with their Leo Innovation Lab4the GSK digital innovation initiative5  and the Novartis digital health labto name a few.

A Wake- up Call for Rare Diseases

Whilst numerous funds have been in existence within the area of chronic, more prevalent conditions until recently there has been a dearth of funding to address the challenges of rare conditions by using technology solutions and or a blend of these with behavioural and social changes.

However, there is now a growing awareness that there is a genuine need to change which is driven by rare diseasehealthcare goals:

Rare Disease Healthcare Goals

Patients and Caregivers

How do we empower and enable patients and caregivers to reduce the length of their diagnostic journey and speed up their correct diagnosis?


Physicians & Providers

How do we enhance the front-line medical professional’s ability and training to identify patients with rare diseases and enhance communications between the two parties?


Health System Tools

How do we derive insights from the wealth of knowledge in existing systems and share data from multiple registries?

But attitudes to change move quickly in the rare space, they have to! And it would appear that 2019 and beyond could be the year for picking up the gauntlet in digital innovation for Rare diseases with a number of innovations which may even supersede those more embedded in chronic, more traditional medicine. Swii.ch Health uncover some below.

Pfizer RxRE event

RxRE was an exciting new event, which aimed to bring together global innovators in medicine, technology and the healthcare industry to tackle some of the important challenges in diagnosing rare diseases.


Collectively rare diseases are quite common, but individually they are rare,” says Nolan Townsend, Pfizer’s regional president for rare diseases in international developed markets. Physicians are trained to recognise patterns, and unfortunately for patients, rare diseases don’t come up that often. This is one of the big challenges not only for treating these diseases but also for studying them.”


With a focus on collaboration between scientists, drugs manufacturers, policymakers, health technology companies, clinicians and patients, the initiative aimed to unlock the potential of emerging diagnostic, digital and data technologies to accelerate patient diagnosis. RxRE aims to encourage connections between participants that could improve the lives of patients with rare diseases.


And whilst the biology behind the various diseases may be quite different, the experiences of rare disease patients are often generically very similar. Pfizer’s big idea in bringing all the parties together is to enable them to learn from each other and to share success stories that they can all learn from.  At the time of writing, outputs from RxRE are unknown but Swii.ch look forward to reviewing the emerging findings when they hit the public domain.


Chiesi Farmaceutici + StartUp Health Initiative – Health Moonshots!

<span”>In 2019, Chiesi signed a strategic deal with StartUp Health, a global health innovation company focused on achieving “Health Moonshots”. For the uninitiated, health moonshots are defined by StartUp Health as a series of health themes which are all interconnected with one another. The Moonshots are illustrated in the diagram below:

StartUp Health – Health Moonshots

The number of patients affected by rare diseases doesn’t matter to us. What matters is the patient and increasing disease awareness,”says Giacomo Chiesi and this partnership with StartUp Health is a significant step forward in Chiesi’s technology & digital health strategy. Chiesi plans to combine its deep expertise in respiratory care, neonatology, speciality care and rare diseases with StartUp Health’s extensive global network of innovative companies and partners, stimulating research and the availability of therapeutic solutions for all patients.


Collaborations with Technology companies

As Pharma companies seek to explore what Artifical Intelligence, Machine Learning and Blockchain technologies can offer to solve the aforementioned challenges of rare disease, a Microsoft, Takeda and Eurordis initiative has recently unveiled an actionable recommendation report and three new digital health pilots. The report focuses on three main ideas, including empowering patients and families, equipping frontline providers and reimagining genetic consultations.



The initiative uses these pathways to guide many digital health pilot programs. The first pilot uses multifunctional machine learning to recognize symptom patterns, with the goal of faster diagnosis, the companies employed machine learning algorithms to link subtle symptoms together. The pilot, based at four medical centers in Spain, is specifically aimed at helping doctors who may not have seen a patient with this type of condition before.


The second pilot, based in Washington DC, is a smart triage system and is designed as a collaboration tool to let genetic specialists give assessments and counselling remotely. It will also include a facial recognition component.


The last pilot, which will be conducted in Switzerland, is focused on using blockchain technology to help patients and their care providers control personal data. The platform lets patients join a “global patient registry for rare disease patients.” And this pilot will hopefully enable patients to be able to share and access data more easily.


Digital Investment Funds for Rare Disease

This isn’t the first- time companies have sought to use digital health to help with rare disease research. August RDMD, is a San Fransisco based start -up that leverages personal health records to accelerate clinical research of rare diseases and it has raised $3 million in seed funding.


And in Europe a London-based data platform, Raremark, (with a focus on rare disease via engagement with patients and researchers) announced a $3.9 million funding round in October.


Also in the UK, Mendelian, a UK healthtech startup, has received a £500,000 grant from Innovate UK to build platforms that will help GPs to identify NHS patients with potentially rare or hard-to-diagnose conditions and diseases more quickly.

This two-year £940,000 project is based on Mendelian’s specialised screening system, which provides augmented and automated data analysis to assist with the accurate identification of patients who may fit specific categories at general practice level – the start of the diagnostic odyssey. Once the technology has analysed symptoms, they are flagged to the GP with various options, including specialist referral and recommendation for further tests and analysis. The first trial is already underway in partnership with the Eastern Academic Health Science Network (EAHSN) and NHS East and North Hertfordshire Clinical Commissioning Group

Mendelian aims to make significant inroads in the time taken to diagnose rare conditions and according to Mendelian’s own research, undiagnosed rare disease patients have cost the NHS more than £3.4bn during the last decade.


Final Thoughts and Challenges

It is clear that the area of rare disease could address many of its challenges in diagnosis, recognition, awareness and evidence gathering using both evolving and traditional technologies. Whilst many of the projects described above may offer hope to patients’ families and others who are impacted by orphan conditions, the downstream impacts of these initiatives both in terms of QOL gains, ROI and true human impact on lives has yet to be documented and shared widely at peer review.


We strongly support the sharing and collaboration of data and learning from individual projects so that any silo type innovation can be avoided. Patient First initiatives are only true to their word if they collaborate and provide scalable access to innovations across borders and therapy areas.


For Pharma and all collaborators to truly share their experience and data is surely the ultimate measure of patient centricity?


Swii.ch look forward to bringing you interviews with key Stakeholders from some of the aforementioned initiatives during 2019.



1 – Diagnosing a Rare Disease. Available at https://www.raredr.com/resource-guide/2017/diagnosis.

2- https://www.digitalhealth.net/2018/04/pharma-giant-pfizer-seeks-to-invest-in-uk-health-tech/

3 – https://www.pfizer.co.uk/pfizer-healthcare-hub-london

4 – https://leoinnovationlab.com

5 – https://innovation.gsk.com/new-product-ideas/digital-health

6 – https://www.novartis.com/our-science/novartis-biome