Rare Disease Focus

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Earlier in September, BlueBee sponsored a Cambridge-based Rare Disease summit organised by a philanthropic-oriented non-for-profit organisation called Cambridge Rare Disease Network (CRDN).

The one-day event was held at the Cambridge Judge Business School and featured 35 speakers and over 130 attendees. The summit attracted all active stake holders in the rare disease space including relatives of rare disease patients, clinicians, industry experts, heads of charities and fund raisers. The legendary Cambridge academic, Stephen Hawking added his intellectual weight in the closing notes via a video specifically made for the summit.

The event was successful and it generated great media coverage. This article aims at highlighting some of the key drivers of the success of the initiative.

For decades, rare diseases has not been an area of focus for the pharmaceutical industry. The root cause does not solely rely within the complex economics associated with rare diseases, but also in the fact that research and development is seriously hampered due to their extreme complex biological origins. For example, some combinations of known, but extremely rare mutations, make it very difficult to classify the disease.

However, things changed for the good. Due to the advancements of genomics research, a notable change happened. Rare and ultra-rare conditions, suffered by roughly 1 patient per 50,000 people, became a prime focus for drug development: drugs known as Orphan drugs.

THE DISEASE RANGE FROM:

Out of this new research and new medicine there will be new treatments for the future.

Prof. Steve Jackson
Gurdon Institute Cancer Research UK

The change happened so rapidly that 17 out of 41 new drugs approved by the FDA have been for rare diseases. Without a doubt this is immensely benefiting for patients, their families and hospitals. When scientific advancement meets technological innovation the unimaginable becomes possible.

Below are a few reasons why the pharma industry has shifted its view about rare disease and started concentrating its efforts and resources:

SCIENTIFIC ADVANCES

A project initiated a decade ago, the Human Genome project, paved the way for the development of personalised medicine.

The Human Genome project enabled scientists to understand diseases from a molecular level. Imagine discovering a disease-causing mutation, its exact location and being able to highlight in future scans. Knowing this new information allowed scientists to develop medicines that could specifically break those blocks of mutations, or help other blocks to be able to break the problemed areas:

DIGITAL TECHNOLOGY ADVANCES

Digital technology advances also played a key part for advancing research. The ability to gather and analyse genetic data would not have been possible without a computer infrastructure that can collect, analyse and store the big genome data. Scientists are now empowered to identify genetic aberrations that could potentially trigger disease, which in turn concurrently helps medical doctors in providing more precise diagnosis. One of big issues with rare diseases is the lack of knowledge about the disease itself. Before a medical doctor can decide which treatment best applies, a correct diagnosis must be made. In the case of rare diseases this is the first crucial issue. Rare diseases are often not diagnosed at all, or even misdiagnosed.

When technology and scientific breakthroughs have a clear fit, governments can initiate programmes to accelerate research on the possibilities.

The UK government, for example, backed up the 100,000 Genomes project. This project was set to sequence 100,000 paricipant samples from NHS patients with cancer and rare disease. Elsewhere in the world, similar projects are being developed to focus on cancer and rare disorders:

The IRDiRC is fully focused on rare disease consortium producing annual reports on advances in Rare disease initiatives.

Other initiatives that are developed to keep track and catalogue rare disease variants databases:

The advances of technology and science on their own could not have actually fostered the results we see today. With social media and ease of access to the internet, crowd-supported resources and charities with a rare disease focus, it became faster to find blogs about a given condition. It is even now possible to get in touch with doctors ,around the world, who are working on similar patient cases and to lobby drug companies and regulators for action. In the past when a doctor was faced with a patient with a rare condition, the only way to know whether treatment was available for that condition was to read or write a medical article on that specific condition. This, you can imagine, would take prolonged amount of time.

SOCIAL TRENDS

At the same time the pharma industry shifted away from the one-size fits all model to a more personalised approach, which had an impact. Interestingly, a comparable shift has already been done in other industries, where a personalised approach has had a more positive effect than the mass approach. For example, personalised financial services and even banking cards, personalised education curriculum, personalised news subscriptions and even in the food and beverage industry with customised labels with names. Sports industry also facilitates custom-made sports equipment. Customers could easily choose their own look and feel of products they wanted to buy.

PATENT EXPIRATION AND REGULATION CHANGE

A non-technology aspect which contributed to this shift, is the expiration of patents for several multi-billion-dollar revenues drugs. Which led to more incentives for companies to focus on the rare diseases. Fast-track approvals led the acceleration path to market of these researched orphan drugs.

An economical aspect is also involved in the shift. The mere costs for the therapies for the unmet-disorders, especially where there is a misdiagnosis, can be very high. Let us set a perspective to understand how price is decided by the pharma industry. For block-buster drugs, pharma companies spend substantial budgets to get a drug through R&D, clinical trials, regulators, train sales people and come with marketing campaigns. The profits they generate are from volumes of sales of these drugs.

When it comes to pricing for rare disease drugs, the metrics are quite different: the medicines are typically the only therapeutic product for a specific condition, and can be sold with minimal overheads via the specialist channel. Companies can justify high prices because of the small number of patients and the fact the drugs can bring substantial medical benefit to the patients.

For example: a drug for a rare kidney condition, Haemolytic Uraemic Syndrome (aHUS), costs more than $400,000 (€353,563) per person per year in the States and in the UK the same drug is sold for £340,000(€464,610). This is a price paid by the national healthcare systems. A treatment for Lipoprotein Lipase Deficiency by a different pharma company is charged €780,000 per patient.

Drug companies are relying on the assumption that health systems will tolerate these high prices, because a minimal number of patients only will require those treatments. However as more drugs start to be approved, it can quickly become a burden on the health systems and notable changes will arise.

CURRENT TRENDS

Data generated from these rare disease studies is of extreme importance as it has research data for the disease pathways that also occur in more common diseases.

With the technological advancements it is now possible to give more precise molecular diagnosis by careful profiling of the genes responsible for the conditions. Knowing the causes puts clinicians in a better position to identify possible drug targets.

Companies like BlueBee are part of the diagnostics supply chain. Using latest advances in high-performance computing architecture, and scientifically approved algorithms for genome data processing, we can provide the support for faster processing of the patient genetic samples. In addition, the BlueBee service resolves other barriers, like the accessing and sharing stored data in a convenient, but highly secured, way. When those road blocks are removed, treating clinics are able to process genome samples from their patients quicker, and simultaneously get a clear picture of the possible genetic cause of the disease. This is a vital step towards delivering a right diagnosis and based on that start a treatment.

Marc Hogenbirk
Head of Product management, BlueBee

Currently we are in close partnership with several hospitals involved in cancer diagnosis and treatment. The accuracy of genomic data processing is validated and can be included during the diagnosis stage. Data can be easily shared securely among external experts for further validation and classification.

Sham Naal
Director of Business Development, BlueBee

BlueBee’s platform has been developed thanks to the advances in both research and digital technology. The service allows treating doctors to give quicker diagnosis and progress patients through more effective treatments.

Following down the chain, companies offering tertiary genome analysis are able to intelligently interpret the genome variations and their impacts on a person’s life.

An accurate diagnosis is just the start of delivering treatment to patients in rare diseases. With all the steps that contributed to the shift within the health industry, an increasing amount of rare disease patients will be treated. A few examples are available in CRDN’s LinkedIn group.

Rare disease patient and communities need our support.

Cambridge Rare Disease Summit 14.09.2015