Advancements in rare disease support systems
Rare diseases affect a fair amount of people around the world. Around 300 million people are affected by a rare disease and approximately 36 million of them reside in Europe. The vast majority of rare diseases, around 80%, are of genetic origin and, of those, 70% already start in childhood. At this stage, about 6000 rare diseases have been recognised within Europe. The management of these diseases has been difficult and has only recently popped into the spotlight for medical health systems across Europe. Now, we find ourselves at the cusp of change, technological advancements that will improve the lives of those dealing with a rare disease. Ultimately opening up new challenges and opportunities for this community to face. We as a society have never before been so prepared to take on this monumental task. Before we get too carried away here, let’s take a look at a bit of the history, what has already been done and then what new advancements in rare disease support systems the future has to offer.
Key Points:
A brief history of rare disease
Before we jump into the advancements in rare disease systems, let’s take a look at some history. Rare disease as a term has not always been used and in all fairness is actually rather new in the world of medicine. It was only in the late 1980s that it started to gain popularity as a term in North America and Europe. The term rare disease follows the Orphan Drug Act in the USA sometime in the early 1980s.?
At first, the term orphan drug referred to medication that had not been reviewed by the FDA and remained in pharmacies in hospitals in the USA. Over time the term broadened its meaning to include “all categories of drugs that were poorly addressed by the pharmaceutical industry. In the mid-1970s, drugs for single usage, drugs for chronic diseases, drugs with anticipated legal liability, drugs for use in diseases endemic to third world countries, and unpatentable drugs were considered orphan (Asbury 1985) and non-profitable, a view later adopted in the first version of the Orphan Drug Act, in 1983, that defined orphan drugs as non-profitable drugs (Haffner 1991).”?
Following the recognition of orphan drugs and the correlating ailments, it became clear that rare diseases were quite prevalent among those affected. Though, at the time rare disease was not used as a category but rather a defining characteristic of a particular patient and tended to remain a note for the physician treating the patient. An example would be something like “a rare spinal disease”. This was meant to assist the physician in managing treatment but had no bearing on the patient and most were not even aware of this distinction. And by no means to alienate the patient, there was no malice intended. It was in retrospect that we began to see the value of sharing pertinent details with patients. In the early 1980s, this was all new to medical professionals and lawmakers. After a second iteration of the Orphan Drug Act, the definition for an orphan drug changed from including all neglected medication to all non-profitable medication for a disease if it (1) affects less than 200,000 persons in the United States of America; or (2) affect more than 200,000 persons but be unlikely to be profitable in the US. However, the second criterion never rang true and so the term orphan drug was forever linked to the term rare disease.?
Rare disease became its own thing which gave a whole community of people the opportunity to unite under one banner. It started to create a platform for patients who wanted to understand their diseases and speak out for those suffering in a similar way. It was the first time that the rare disease community had a voice that could be heard across the world. Europe quickly took to this new term and trend of using it to categorise a patient and be able to relate to them the difficulties of having a rare disease. By the late 1980s, the majority of first-world countries had made the shift to recognising and subsidising orphan drugs. This allowed patients to have access to much-needed treatment and make it profitable for the pharmaceutical manufacturers. There was still much to take into consideration and it would be years before a true change in the public domain would occur.?
What has been done in the EU already?
Well, the years have been kind to the rare disease community. The platforms for patient advocates have grown through hard work and dedication, while policies and programmes have evolved to allow for better care of people suffering from rare diseases and improving tools for medical professionals. The biggest growth started around the early 2000s after more patients started to share their experiences and even take up important roles in the push for policy reform.
Let’s take a look at the European Joint Programme on Rare Diseases (EJP RD). The EJD RD assist in four main areas of rare disease diagnostics and management. Those are:
All in an effort to create an efficient multinational ecosystem for patients and professionals. Through events and networking, they have been able to connect 130 organisations across over 30 countries to ensure that the information is shared ethically and with speed. The EJD RD tackle the issues that affect all countries and institutions in the pursuit of proper care for people with rare diseases. Mainly delayed diagnosis, few medications and difficulty accessing proper care.
Other organisations follow a similar path when it comes to the approach of creating and maintaining an ecosystem that promotes diagnosis, treatment and education on rare diseases. EURODIS is one of the most prominent non-profit organisations focused on the advancement of findable, interoperable, accessible and reusable data to benefit professionals and patients. They are focused on ensuring a future for all dealing with rare diseases to have sustainable and fruitful lives. Essentially, to be able to function within society without having to remain an outsider. It takes more than a village to make this shift in mindset and it affects the entire global community of people with rare diseases.?
Another programme I found to be an excellent way of supporting the community while getting the word out about rare diseases is the Rare Bear Project in South Africa. This organisation works with and for the community in ways that many others do not. Making them unique on the global stage for rare disease awareness. In conjunction with Rare Disease South Africa (RDSA) they have worked towards providing skills to communities in need and giving back to the rare disease network. They work with ladies in the Kya Sands area to create crocheted rare disease bears that can be bought or donated. The ladies learn a new skill and make a living from creating bears that bring a whole lot of joy to people, mostly children, suffering from a rare disease.?
Then you have programmes that are part of the government's push towards healthcare for all. The European Commission is the most prominent example. Where they have been focused on the following key aspects of rare disease care (as stated on the website):
The intent is that all patients will have access to healthcare services even if that means having virtual consultations with specialists in other countries.
Where is the future taking rare diseases?
What does the rare disease action plan hold for the future? How will rare diseases be treated and managed in the years to follow? Considering how new the term is and how most people are unaware of the difficulties these communities face, it does not really sit in the spotlight. Yet there are millions of people who need assistance and access to care that is not invasive or triggers flare-ups. The future is in the hands of technological developments, medical manufacturers and policymakers. This is driven by the need for substantial care and the voices of the many patient advocates getting their stories out there. Being heard, being seen, and taking action.?
领英推荐
The first thing to point out is the function of artificial intelligence (A.I.). Along with machine learning, this technology has the potential to reduce the time taken to get to diagnosis through advanced symptom checker apps or chatbots. Though there are currently apps like that available they are limited in the offering and the results they can source. For the best results from such systems, you would need to seamlessly incorporate ethical ecosystems that can request consent to access data of all kinds. This will give the A.I. a chance to weigh out the possibilities and deliver an accurate assessment properly. Also allowing the patient to go down the right path and speak with the right specialists from the beginning of their journey. Simply put, if you do not have access to a doctor with the right knowledge base for your particular disease you won’t get results. A.I. on the other hand will be able to connect you with the right specialist, even if they are 100s of kilometres away. A true system for finding the disease that matches your symptoms and getting you in touch with the right people. In the future, people with rare diseases will be better equipped to advocate for their healthcare and doctors will have access to data that might not have come up during the initial consultation.?
Clinical trials are also among the approaches to receiving a facelift. Historically, clinical trials have been very difficult for rare diseases as you have to recruit from all around the world and comply with a number of different regulatory boards which could slow progress or even completely end the study altogether. Much like patients having the assistance of A.I. in the search for a diagnosis, so can researchers needing participants. The options will include completely virtual trials with virtual participants and/or using an online platform, bringing participants closer to the researchers. Meaning, that we are looking at testing new drugs entirely virtually and then bringing them to the patients who volunteer. Providing a much greater chance for success in the real world.
Lastly, improvements in lab equipment, testing facilities and testing/monitoring equipment will provide a safer space emotionally for both doctors and patients. At the same time delivering accurate results. Something such as an MRI scanner that is standing the patient upwards instead of lying down immediately creates a sense of control and is far less suffocating. A patient that is relaxed will be able to do the tests with fewer interruptions and anxiety. The next few years will see a big push towards interesting equipment better adapted to make the process of testing much easier and less invasive. But let’s save that for a later article where we can go into the topic more deeply.
What to take away
Rare diseases are complicated and it will take time before we can confidently help those in need of accessible healthcare services. The good news is that we are on the right track, with more and more organisations giving a voice to a community that has struggled to be heard. I look forward to a future where children and adults suffering from rare diseases that can be managed find better alternatives to the current availability. Advancements in rare disease support systems mean that the standard healthcare systems will improve for us all.
__________________________________________________________________________
Author notes:?
My name is Damien and I am inquisitive, curious and many times stupefied, about all that tech has to offer the world. Most recently around the areas of AI, ML, and UX/CX? in e-Health and Digital Health Journeys. All of my views expressed here are those of my own and do not represent the views of the ZurRose Group. Follow me on a journey through e-Health and tech in the healthcare industry.
Sources: