Volv Global Blog

Posts by

Christopher M de M Rudolf

Christopher is the founder & CEO of Volv Global SA based in Lausanne, an applied data science company, that creates cutting edge approaches to solving difficult problems in healthcare and life sciences. He is passionate about innovation, thinking aloud/allowed and entrepreneurship and applying it in the healthcare and life sciences industry to help improve the patient experience of living with disease. He has over 30 years of experience as a technology entrepreneur and independent business advisor, having worked for many Blue-Chip organisations helping solve their critical global scale data problems. Interested in: Like-minded curious people, collaborative cross-disciplinary thinking, rare diseases, and next generation healthcare.

Bernd and Ben's Experience: Alström Syndrome and their intertwined journey on how to live their best lives.

Painting called 'The Rain' by Ben Rosenbichler

Rare disease patients and the journey to diagnosis, treatment, and support

For patients with rare diseases and their families, the journey from dealing with symptoms to diagnosis and eventually – where possible – to treatment is often a painfully slow one. Most find their conditions are unknown or poorly understood, that the effect on their lives is not properly recognised or sometimes even dismissed, and that the support they receive is woefully inadequate.

Better patient care, diagnosis and treatment depends on improving knowledge about the more than 9,000 rare diseases and conditions that have been catalogued (at last count on Orphanet, the number was 9,332 unique rare diseases and 21,582 synonyms). Since the human brain cannot keep track of that many conditions and heterogenous symptoms, Volv Global SA believes its inTrigue methodology using AI is another way to profoundly change the patient experience for the better. Alongside this highly scientific approach, it is also vital to understand and record the patient voice.

Over the next three months leading up to the World Orphan Drug Congress Europe 15 - 18 November 2021, Volv Global SA will share the personal journey of some individual patients to specifically highlight the profound knowledge that they have about their rare disease and the wide-ranging impacts such a disease can have on them and their families. These patients and thousands of others like them are the people best placed to help us to make our organisations truly patient-centric.

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Tamsyn's Experience: Poland Syndrome and the problems beyond diagnosis

Rare disease patients and the journey to diagnosis, treatment, and support

For patients with rare diseases, the journey from dealing with symptoms to diagnosis and eventually – where possible – to treatment is a painfully slow one. Most find their conditions are unknown or poorly understood, that the effect on their lives is not properly recognised or sometimes even dismissed and that the support they receive is woefully inadequate.

Better patient care, diagnosis and treatment depends on improving knowledge about the more than 9,000 rare diseases and conditions that have been catalogued (at last count on Orphanet, the number was 9,332 unique rare diseases and 21,582 synonyms). Since the human brain cannot keep track of that many conditions and heterogenous symptoms, Volv Global SA believes its inTrigue methodology using AI is another way to profoundly change the patient experience for the better. Alongside this highly scientific approach, it is also vital to understand and record the patient voice.

Over the next three months leading up to the World Orphan Drug Congress Europe 15 - 18 November 2021, Volv Global SA will share the personal journey of some individual patients to specifically highlight the profound knowledge that they have about their rare disease and the wide-ranging impacts such a disease can have on them and their families. These patients and thousands of others like them are the people best placed to help us to make our organisations truly patient-centric.

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Accurate patient cohort identification

2021 08 WODC USA Presentation

How we find the 50% of undiagnosed patients

An AI-based approach to drive earlier disease diagnosis and a case study

  1. Understand the burden of diagnosis for rare and heterogenous diseases from the clinician’s point of view.
  2. How we can make a difference with AI, to help ease the burden of misdiagnosis for all stakeholders, clinicians, and patients alike.
  3. Case study summary: presented at The International Society for Pharmacoepidemiology (ISPE), for Fabry disease in the Netherlands

Download the Presentation here:

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The maze of rare disease diagnosis

Paul's Experience: Narcolepsy and diagnosis - an 8 year odyssey

Photo by Dan Asaki on Unsplash

Rare disease patients and the journey to diagnosis, treatment, and support

For patients with rare diseases, the journey from dealing with symptoms to diagnosis and eventually – where possible – to treatment is a painfully slow one. Most find their conditions are unknown or poorly understood, that the effect on their lives is not properly recognised or sometimes even dismissed and that the support they receive is woefully inadequate.

Better patient care, diagnosis and treatment depends on improving knowledge about the more than 9,000 rare diseases and conditions that have been catalogued (at last count on Orphanet, the number was 9,332 unique rare diseases and 21,582 synonyms). Since the human brain cannot keep track of that many conditions and heterogenous symptoms, Volv Global SA believes its inTrigue methodology using AI is another way to profoundly change the patient experience for the better. Alongside this highly scientific approach, it is also vital to understand and record the patient voice.

Over the next three months leading up to the World Orphan Drug Congress Europe 15 - 18 November 2021, Volv Global SA will share the personal journey of some individual patients to specifically highlight the profound knowledge that they have about their rare disease and the wide-ranging impacts such a disease can have on them and their families. These patients and thousands of others like them are the people best placed to help us to make our organisations truly patient-centric.

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One of Nightingale’s most significant innovations was a diagram which showed the causes of soldiers’ deaths over two successive years in the Crimea

Contextualising Clinical Challenges: The History of Medical Knowledge

When Florence Nightingale returned from the Crimea to London in 1856, she set about publicising her statistical findings as well as her proposed medical reforms. But she was aware of the limited effect one person could have on practices within the armed forces and the nursing profession.

The first year (shown on the right of the diagram) was 1854–5, following her arrival in the region. The second (on the left) was 1855–6, after she had implemented a series of reforms to the hospital and nursing practices.

In her diagram, each wedge represented a month, and the area of the wedge showed the number of soldiers who had died that month. The blue area showed deaths from preventable diseases picked up in the terrible conditions at the Crimea. Red sections showed deaths from battlefield wounds. Black areas were deaths from other causes.

Readers could see two things. The first was that the reforms Nightingale implemented and campaigned for had made a huge positive difference to mortality. The second, and more shocking result, was that more soldiers died from preventable diseases during the war than from injuries.

Today, we are used to seeing statistics presented in graphical form. Infographics are common in newspapers, magazines and online. However, in 1850s Britain, the approach was revolutionary.

Credit: Thanks to the Science Museum, London for the inspiring image above and content. 

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Picture of the World Orphan Drug Congress hosted a webinar titled, “How can AI impact industry?”

Driving patient centricity through real-world evidence

Executive Summary

To acknowledge Rare Disease Day and the struggles facing patients with rare diseases, the World Orphan Drug Congress hosted a webinar titled, “How can AI impact industry?” The session, which explores the role of real-world evidence (RWE) to improve orphan drug development and access, brought together leaders in their field with deep knowledge of rare diseases and the importance of RWE in helping to identify the right solutions for the right patient.

During the discussion, several important and often overlooked themes were brought to the fore. The purpose of this paper is to explore these in greater depth and share the unique insights from the panel. These include the integral role of the patient in owning, managing, and deciding when, how and where to share their data. Certainly, a patient-focused approach that safeguards the individual’s privacy and ensures consent, is paramount if researchers and drug developers are to make full use of RWE to find therapeutic approaches and cures for rare diseases. In addition, the industry will need to address data sharing issues and legislative barriers and ensure they fully engage the regulators to bring therapies to patients in need. The paper provides a thoughtful and balanced discussion of these topics and aims to seed further insights as drug developers, clinical research experts, regulators, artificial intelligence specialists and, crucially, patients and their carers, seek to leverage tools such as RWE to help the millions of rare disease patients in need worldwide.

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Improving the Rare Disease Diagnostic Journey with using AI. Using Volv's methodology inTrigue and Scailyte's single-cell data analysis platform ScaiVision

Improving the Rare Disease Diagnostic Journey with Advanced AI

The journey from first symptoms to diagnosis is a long one for most patients with rare diseases. According to a survey from EURODIS, 25 per cent of patients with among the most common rare diseases waited between 5 and 30 years for a diagnosis and 40 per cent were misdiagnosed during that time.

There are many reasons why diagnosis is so challenging. One is that most physicians have limited knowledge about rare or ultra-rare diseases. Another is that as many as 60% of rare diseases present with significant heterogeneity of symptoms, making it extremely difficult to diagnose patients early enough in their disease progression.

A third barrier to diagnosis can often be attributed to the complexity of the diagnostic test currently available. For some rare conditions, deep muscle biopsies are still used for diagnosis and for some rare heart conditions, stents are often the only commercial diagnostic tool available to accurately identify a condition.

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Determining patient prevalence with rare and ultra-rare diseases will help to build your gene therapy value story

Building Your Gene Therapy Value Story From Day One

Cell and gene therapies, also known as advanced therapy medicinal products (ATMPs), are potentially life changing. For patients with rare diseases, they extend the hope of a longer, healthier life and even of a cure. But these therapies are exceptionally expensive with up-front costs ranging from $500,000 to $2 million. Additionally, some incur heavy ongoing costs throughout the life of the patient.

For health technology assessment (HTA) organisations – which must balance clinical effectiveness, safety and efficacy with cost effectiveness, social outcomes and ethical considerations – the decision to support market access for ATMPs is a complex one. Budget constraints mean HTAs and insurers often must make tough decisions balancing the ATMP reimbursement with a reduction in spending elsewhere in the healthcare system. Consequently, therapies that are not viewed as compelling, face rejection. Moreover, the decision-making process can vary from region to region: vastly different decision criteria, for example, are adopted in the UK, the USA and China.

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Why can’t we find the 50% of people with rare diseases who remain undiagnosed?

Why can’t we find the 50% of people with rare diseases?

It might be said that picking out patterns to identify patients with rare diseases is a bit like distinguishing thousands of constellations of stars. Neither is within the scope of the human eye and both require extremely advanced technologies to even begin to decipher and separate patterns. Yet finding the 50 percent of undiagnosed patients with one of the approximately 7,000 rare diseases is a medical and clinical imperative.

Typically, the way clinicians diagnose patients is by taking what the broader healthcare industry knows about a disease – generally as described by key opinion leaders (KOL) – and correlating a patient’s symptoms to those definitions. The problem with this approach when it comes to rare and ultra-rare diseases is that it is subject to experiential bias. If the KOL has not observed a pattern of symptoms or the order in which those symptoms emerge differs significantly, the patient will likely remain undiagnosed.

There is so much we don’t know about rare disease, but what we do know is that there is enormous heterogeneity of symptoms – so much so that as many as 60% of rare diseases present with significant heterogeneity, according to genomics experts. Understanding this 60% variation in symptoms with rare diseases is undoubtedly the greatest challenge facing both healthcare professionals as well as the companies seeking to find and develop new treatment options. Even for those rare diseases where there are already treatments, the difficulty can be diagnosing patients early enough to limit the worst effects of the disease. For example, some symptoms may not be flagged as significant from a clinical perspective, despite the challenges they present to the patient on their journey to diagnosis, and by the time the patient’s symptoms escalate to correlate with recognised patterns, it’s often much later in the disease’s progression, on average, six years from the onset of symptoms.

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Quantifying Predictive Power of Features in Electronic Health Record Models – the Volv inTrigue way

From predictive to interpretable models

At Volv we provide the insights on our approaches and methodology 

Quantifying Predictive Power of Features in Electronic Health Record Models – the Volv inTrigue way


When we work on complex prediction models with our inTrigue methodology, we are often asked to help clinicians and others to interpret these models by listing the patient features (attributes) which are used by the model to form its predictions. And indeed, generating a list of predictors ranked by their ‘importance’ in a model can translate to improved interpretability and clinical impact. However, there is some work that needs to be carefully considered in order to produce tooling that is derived from complex models that can provide real benefit in a clinical situation. So Rich Colbaugh and I decided to discuss this for you, our audience.

Interpretability is a theme that often surfaces when considering data science model outputs, and the issue of a 'black-box' system is often cited 

as a challenge for customers and is discussed at many conferences. As it is important to deliver real world results, we discuss here what Volv does to create interpretable models of true utility. The journey from complex modelling to interpretable models is however not necessarily simple when dealing with real-world solutions involving highly dimensional messy data.

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