However, by definition, the market for such treatments is limited, so the business case for a drug developer is often, at best, unclear; without government intervention it would be untenable. Having said that, new technologies and a deeper understanding of the mechanisms of rare diseases is driving investment in the sector.

Patient advocacy groups have played a key role in raising awareness and investment, and are increasingly involved in the design and implementation of clinical trials.

In this article we explore the rare disease landscape, focusing on the emerging and hugely promising technology of ‘gene silencing’. Since around 80% of rare diseases are monogenic, caused by a mutation in a single gene, the ability to stop that mutation from forming toxic proteins is a game-changer.

We will discuss in some detail one form of gene silencing technology, antisense oligonucleotides (ASOs), which is proving to be particularly effective; ASOs are currently being trialled for treating a wide range of conditions, from Alzheimer’s and Parkinson’s to Motor Neurone Disease.

Finally, we speculate on what 2025 might bring for the biotech industry. Will AI advance rare disease diagnosis, drug research and clinical trial design?

Landscape painting

According to the European Commission, there are between 6,000 and 8,000 known rare diseases, with new conditions being discovered regularly.

And according to a report from May 2024 by Global Market Insights (GMI), the market for ASOs was worth $4.4 billion in 2023 and is predicted to grow at a Compound Annual Growth Rate (CAGR) off 18% to reach $19.7 billion in 2032.

GMI cites the increasing prevalence (and diagnosis) of neurodegenerative and genetic disorders, growing investments in research related to gene expression and delivery technologies, and the growth in regulatory approvals for antisense therapeutics as the key drivers behind this growth.

Rare diseases are rare individually but collectively add up to a significant number; up to 400 million people worldwide are affected, and about 90% of those have no current treatment.

But bespoke ASO therapies can be very expensive. For example, a five-year treatment of the ASO drug ‘nusinersen’ costs over $2 million for one patient.

The cost for healthcare systems is also very high; over the last ten years the cost to NHS England of rare disease patients up to the point of a diagnosis was greater than £3.4bn, according to a report from 2018 by Imperial College Health Partners.

Familiar Stories

Getting the right diagnosis, early, is widely agreed to be the most serious challenge faced by those affected by a rare disease. On average, it takes over four years to get an accurate diagnosis, according to Rare Disease UK.

Rare diseases often exhibit a wide variety of symptoms that can overlap with more common conditions, making them difficult to distinguish.

A major challenge in getting the right diagnosis is simply the limited knowledge of rare diseases, especially at primary care level. Clinical knowledge is often lacking, being available only at specialist centres.

The critical problem of a delayed diagnosis is made more acute as the impact of ASOs is greater the earlier they are administered; as time goes on some symptoms may cause irreversible damage. For some the hope may only go as far as delayed progression, though there is some evidence starting to emerge of symptoms being reversed and patients recovering capacities.

For perhaps obvious reasons, the rarer the condition, the less chance of diagnosis and the longer that can take.

Cell out

Messenger RNA (mRNA) is a copy of DNA that leaves the cell nucleus for the ribosomes, where mRNA genetic code is translated into amino acids. These then grow into long chains that fold to form proteins.

ASOs are short, single sequences of nucleotides, designed to bind to mRNA – stopping it from completing its function. It is the ‘sense’ part of mRNA that results in a protein. ASOs are called antisense because they bind to the sense part of mRNA in a complementary manner.

If a gene is known to have a specific mutation that leads to the production of a toxic protein, then the associated mRNA can be targeted by an ASO, leading to a reduction in the volume of toxic protein produced.

‘Gene silencing’ is different from gene editing in that the gene itself in untouched; only its expression as a protein is affected. ASOs are highly targeted and produces much fewer side effects than gene editing.

In trials at University College London Hospitals an ASO is being used to target the mutated gene that results in the Tau protein, one of the two proteins (the other is Amyloid) that are known to be prevalent in patients with Alzheimer’s. The trials have recently been extended after initial success.

Trials are also now underway for gene silencing ASOs that treat Parkinson’s and Motor Neuron Disease. ASOs have shown particular benefits in the treatment of neurodegenerative diseases, including Duchenne muscular dystrophy.

Perhaps most importantly, ASOs target the molecular causes of disease, rather than just treating the symptoms. This is what makes them game-changing.

Patient voice

Patient advocacy groups have historically played a vital role in lobbying for change; in the US in the 1980’s it was advocacy by the National Organization for Rare Disorders (NORD) that resulted in the passage of the Orphan Drug Act (ODA) in 1983, a seminal moment in the history of rare disease drug development.

The ODA included provisions for 7‐year market exclusivity for orphan drugs, tax credits, development grants, fast‐track approval, and the waiving of some fees. These incentives help offset the high costs and risks associated with developing therapies for diseases with small patient populations, making it more feasible for smaller biotech companies to undertake such projects.

In the UK, to take one example, the H-ABC Foundation supports patients and families affected by the disease, advocates on their behalf, and raises money to help fund vital research. They also maintain a map of patients and their specific symptoms, disease progression and more – all vital input to clinical trial design.

Rare disease drug development in 2025

What will this year bring? In a world controlled by economic mantras, rare disease drug development would likely never occur; so government intervention has, in this case, proved vital to the life-chances of millions of patients worldwide.

In 2025, advances in gene therapies will accelerate the pace of drug development; treatments will be developed that are highly targeted and easier to deliver.

But perhaps most encouragingly there is the promise that rapid advances in AI for data analysis, pattern recognition, decision-support systems, genomic analysis, image analysis, and much more, will mean that rare disease identification is much more rapid.

AI tools could help distinguish rare disease symptoms from more common ones, getting to the very heart of the challenge – early identification.

A key factor is learning from real-world data. In a typical consultation, it may be near-impossible to research historical records to look for patterns, tell-tale signs and other data-based clues – precisely what ‘trained’ AI tools can do.

There are issues of course, not least around patient confidentiality and data security. These are paramount in any health system, so the use of powerful algorithms to search vast (real -world) data sets inevitably causes concern.

Ethical and legal issues include questions around accountability; who gets the blame if an AI diagnosis turns out to be wrong?

By Dan Williams, PhD CEO SynaptixBio

About the author

Dan Williams is CEO of SynaptixBio. He has spent over 20 years in the industry after studying at the University of Dundee for a degree in biochemistry and physiology, and a PhD. After his PhD he entered the industry, where he worked his way up to senior scientist. Dan then took over management of a cell research group, initially running a cell biology research and then preclinical development.

Following this he moved to drug development, focusing on the organisation and management of both manufacturing and clinical trials. After that particular therapy went into the clinic and was progressing within clinical trials, he moved to Adaptimmune and switched from biologics to developing cell therapies. He set up the development groups within Adaptimmune, while project managing some of the preclinical research and the move from the partnership with an academic group for their clinical trials, to taking on those clinical trials as a company.

He then managed the larger research group, and moved from that position to the VP of Research Operations. From there, Dan moved to Meatable as the Chief Product Officer. Dan co-founded SynaptixBio Ltd. in 2021 with the aim to push leukodystrophy therapies through to clinical trials.

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“The only thing that was impossible was to do nothing.” These are the words of Terry Pirovolakis, CEO of Elpida Therapeutics, and father to Michael who was diagnosed as an infant in 2019 with an ultra-rare neurological condition, SPG50. Despite being told there was no cure, Terry moved mountains over four years to find a breakthrough gene therapy that his son and other affected children all over the world could benefit from.

Michael, Terry, and their family are not alone in facing a long, daunting journey to access life-enhancing therapy for a disease with no cure. In the European Union, less than five percent of rare diseases have at least one approved treatment.[1] It can take up to five years for adults to receive a diagnosis, and half of patients will receive a misdiagnosis first.

By 2030, the goal is to support the development of 1,000 new therapies in Europe.[2] However, rare diseases challenge traditional ways of doing business. Once a medicine is approved, organizations must launch and scale quickly, often across multiple markets. Field medical teams must keep track of complex science at a time when the volume of medical knowledge is doubling every 73 days.[3] They need to identify, engage, and provide education to relevant healthcare professionals (HCPs) and experts even though they’re harder to reach via traditional methods (Veeva Pulse data shows that in-person meetings with physicians have declined in Europe in the last 12 months).

Despite these difficulties, life sciences organizations are improving how their teams organize market access and educate prescribing doctors on new medicines. Companies with comprehensive, accurate healthcare ecosystem data and insights relating to medical experts can prepare the market pre-launch and hit the ground running to accelerate execution after launch. This helps all customer-facing teams to deliver a consistently high-value scientific exchange in which every interaction builds off the last.

Greater agility during launch

Emerging biopharmas play a key role in delivering treatments for affected patients. Of the 192 orphan medicinal products (OMPs) authorized by the European Medicines Agency (EMA) between 2010 and 2022, one in ten successful applicants was designated an ‘SME’.[4] Facing more resource constraints than their competitors (which may have sales organizations multiple times their size), early-stage companies are increasingly seeking the best customer reference data and key opinion leader (KOL) insights to become more nimble when launching new treatments.

Rich information on experts, available in CRM, supported Sweden-headquartered Sobi to launch the first and only medicine for hemophagocytic lymphohistiocytosis (HLH) — a rare, hyperinflammatory condition affecting one in 50,000 resulting in a two-month life expectancy. In the U.S., MSLs at the company now routinely use real-time intelligence to find the right KOLs, understand their interests, priorities, and activities, and consolidate scientific information and updates. “90% of MSLs found new insights for their next engagements, which is critical for a rare disease company with lean teams,” says Rich Palizzolo, executive director of CX and advanced commercial capabilities at Sobi.

An added complexity is that rare diseases often involve several specialties. MSL teams have to get up to speed quickly on multiple areas before meeting experts — while also being responsible for other (more mainstream) therapeutic areas. ADVANZ PHARMA, which focuses on specialty, hospital, and rare disease medicine, found having scientific resources and activity data in one place helped MSLs use their time efficiently. Head of CRM and Digital Solutions for Global Commercial Excellence, Andy Eeckhout, notes: “Our customer-facing teams need to be agile communicators and effectively switch to a more patient-oriented, in-depth scientific discussion than with generics. Pre-call planning is crucial for MSLs before and after launch. The more data they can find, including on past interactions, the better.”

Other companies use customer reference and patient data to improve operational agility as they launch and scale their first products across Europe. For example, one late-stage biotech leveraged its data on the healthcare ecosystem to get a head start on launch by identifying market access roles in Spain, Benelux, and the Nordic countries.

One voice to the physician

After identifying the right experts, teams can engage them more effectively by ensuring that each HCP interaction builds off the previous one. However, sales, marketing, and medical teams often use disconnected technology. As a result, 65% of HCP engagements are not synchronized.

When these teams are connected in the same system handovers are smoother, and HCPs can find answers quickly or connect with MSLs if needed. ADVANZ PHARMA introduced a pre-launch module in its CRM to help market access, medical, and commercial teams share information compliantly. Eeckhout explains: “Physicians need a direct line to the industry, so they know who to contact when they have questions. Medical and commercial teams need to talk to each other and remain agile across customer conversations.”

ANI Pharmaceuticals, which delivers treatments for certain rare autoimmune and inflammatory conditions, only had 75 days to commercialize following swifter-than-expected regulatory approval. By using an industry-specific CRM with master data management, it consolidated its view of each HCP to include interactions with medical and sales reps. “Having this information accessible within the CRM system facilitates more thoughtful and helpful conversations with providers, as well as sales teams’ success and high click-through email rates,” explains Bob Acropolis, executive director of operations and analytics at ANI.

The foundation of successful interactions is accurate reference data — on physicians, healthcare organizations (HCOs), or affiliations. If applied across functions as part of a complete life sciences-specific CRM, it helps companies speak with one voice. In most cases, data change requests (DCRs) can now be made (and resolved) in hours, so reps and field medical don’t duplicate attempts to modify account information and instead work from the same database. With greater trust and confidence in reference data, teams save time so they can focus on high-value scientific exchange.

Sharing medical content that engages

Europe’s fragmented regulatory landscape and evolving local requirements intensify the pressure on marketing teams: they must provide highly personalized, compliant medical content that field teams can share at scale with scientific experts and physicians. With a single view across the entire content lifecycle, biopharmas can streamline and speed up medical, legal, and regulatory (MLR) reviews.

To deliver highly personalized content across a large rare disease portfolio, marketing teams need clarity on which content to recommend, and when. One global biopharma uses data analytics on its global repository of promotional and medical engagement tools to support content use across 17 areas of focus (and a growing global footprint). As its head of marketing and customer engagement noted, “How we engage with HCPs is critical. We need to know what percentage of our content is being developed and relevant to support different HCPs, whose patients rely on them for their rare disease diagnosis and management.”

As a new generation of digitally-savvy HCPs comes through, companies are considering the most effective tactics to engage them. More scientifically active than their peers and four times more likely to adopt a new treatment, younger HCPs require a different mix of scientific channels and content. They seek medical insights to inform their clinical and commercial decisions, which requires close coordination between medical affairs and field medical. “Gone are the days when medical could just focus on the top-tier scientific thought leaders. The range of stakeholders has broadened, and it’s imperative to expand our engagement strategies beyond traditional experts,” says Angela Smart, director of global medical excellence and operations at ADVANZ PHARMA.

Defying the odds, then beating them

Scientific discovery continues to bring hope to patients affected by rare diseases and their families. Life-changing conditions will eventually become chronic illnesses, thanks to the efforts of organizations willing to launch in a high-risk commercial environment. Companies ranging from emerging biotechs to global biopharma are using high-quality customer reference data, deep data on scientific experts, and connected technology to identify, engage, and provide medical education to the most relevant HCPs and KOLs.

Every rare disease patient faces a daunting journey. When Terry Pirovolakis’ son, Michael, was diagnosed, his family was told he was the only child in Canada with SPG50. Life sciences will do its part to help patients defy overwhelming odds — and eventually beat them.

By Chris Moore, President, Veeva Systems Europe

References

[1] “The building blocks to make rare disease treatments more common,” European Commission, February 2022

[2] “What is Rare Disease,” EURODIS, 2024

[3] “Challenges and Opportunities Facing Medical Education,” American Clinical and Climatological Association, 2011

[4] “Trends in orphan medicinal products approvals in the European Union between 2010–2022,” Orphanet Journal of Rare Diseases, 2024

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For many patients, this diagnostic odyssey spans years, leaving them without proper treatment while health care providers struggle to identify the underlying cause. Artificial intelligence (AI) is transforming this arduous process — offering a faster, more accurate route to diagnosis. AI tools, capable of processing immense volumes of data and detecting patterns invisible to human eyes, can potentially revolutionize rare disease diagnosis.

Explore the challenges in detecting these cases and how AI is reshaping the rare diseases landscape for health care professionals.

Why Are Rare Diseases Hard to Detect?

One of the primary reasons rare diseases are difficult to diagnose is their complexity. They are sometimes called orphan diseases and earned their name since they only affect fewer than 200,000 people in the United States at a given time.

There are over 6,000 of these diseases today, and many share common symptoms with more frequently encountered conditions. This makes it easy for physicians to misdiagnose or overlook them.

For example, a patient with Gaucher disease, which affects how the body processes fats, might present with fatigue, bone pain and anemia. These symptoms could be mistaken for more common disorders like arthritis or anemia itself.

It’s not uncommon for patients with rare diseases to see multiple specialists, undergo extensive testing and endure years of trial-and-error treatments before the correct diagnosis is made. The process is often a frustrating experience for patients and physicians, particularly when standard diagnostic approaches fail to provide clear answers.

A lack of awareness also complicates the diagnostic process. Physicians may rarely encounter rare diseases in their practice, and the limited availability of research further hinders the ability to recognize and treat these conditions effectively.

With rare diseases being — by definition — uncommon, many health care providers might not even consider them as a potential diagnosis. This limited exposure contributes to prolonged diagnostic times, leading to delayed or ineffective treatments for the patient.

AI’s Role in Revolutionizing Diagnosis

AI is proving to be a powerful tool in addressing diagnostic challenges. Through its capacity to analyze vast amounts of data, recognize patterns and learn from previous cases, AI can assist health care professionals in diagnosing rare diseases with greater speed and accuracy.

AI excels in genetic data analysis, which is especially valuable in diagnosing rare disorders. Many of these diseases are caused by mutations in a person’s DNA, but manually identifying them is time-consuming and prone to error.

AI-driven platforms can rapidly scan a patient’s genetic sequence, comparing it to databases of known mutations associated with specific rare cases. This is useful for conditions like cystic fibrosis or muscular dystrophy, where identifying the genetic mutation is crucial to diagnosis.

Aside from genomics, AI is making strides in medical imaging. AI algorithms can be trained to analyze medical images — such as MRI or CT scans — to identify markers of rare diseases that human eyes might miss.

For instance, in rare conditions like multiple system atrophy, AI can detect subtle changes in brain structures that may not be apparent to radiologists — leading to earlier diagnosis and intervention. These AI-enhanced diagnostic tools improve accuracy and reduce the time it takes to make a determination, benefiting patients and health care professionals.

Another significant application of AI is in natural language processing (NLP). This allows AI to parse through electronic health records (EHRs), extracting relevant information and comparing it to symptoms associated with rare disorders.

AI can suggest possible diagnoses based on data correlations by scanning patient histories, physician notes and test results. This technology is a valuable assistant to physicians, helping them identify potential diagnoses that may have been overlooked or never considered.

AI in Action: Diagnostic Tools for Rare Diseases

Several AI-driven tools are already making a tangible difference in diagnosing rare diseases. One such tool is DeepGestalt, a facial recognition software that assists in diagnosing genetic disorders by analyzing a patient’s features.

This AI-based system is particularly effective for rare genetic conditions like Noonan syndrome and Williams syndrome, where specific facial characteristics are a key diagnostic indicator. Analyzing images of patients enables DeepGestalt to suggest possible diagnoses with a high degree of accuracy, helping clinicians identify conditions that may otherwise go undetected.

Another promising tool is IBM Watson for Genomics, an AI platform that aids health care professionals in interpreting genomic data. Watson analyzes a patient’s genetic information and compares it to a database of known mutations and associated diseases.

The system can then recommend a diagnosis, providing a valuable second opinion for physicians. This capability is especially advantageous in cases where a patient’s symptoms don’t clearly align with a particular disease, helping to narrow down potential diagnoses from a vast array of possibilities.

These AI tools are not just theoretical concepts — they have been tested and validated in real-world settings. In some cases, AI systems have been shown to diagnose certain rare conditions more accurately than human physicians. This level of precision offers hope for improving patient outcomes, particularly for those who have spent years searching for answers.

The Role of Health Care IT Professionals

Successfully implementing AI in diagnosing rare diseases depends heavily on the work of health care IT professionals. AI systems require vast amounts of data to function effectively, and IT teams are responsible for managing the infrastructure that supports these systems. From integrating AI tools into existing EHR systems to ensuring data security and privacy, these professionals are crucial in enabling AI to deliver accurate and timely diagnoses.

Moreover, the potential for bias in AI algorithms is a significant concern. If the data used to train AI models is not representative of diverse populations, the resulting algorithms may produce biased outcomes, particularly for underrepresented groups. Health care IT professionals must work closely with data scientists and clinicians to ensure systems are trained on diverse datasets, minimizing the risk of bias and promoting equitable outcomes.

A New Frontier for Rare Disease Diagnosis

AI is changing how rare diseases are diagnosed, offering new hope to patients and health care providers alike. It analyzes large volumes of data, recognizes complex patterns and identifies genetic mutations with unprecedented speed. AI is providing health care professionals with the tools they need to diagnose rare diseases more efficiently and accurately.

AI represents both a challenge and an opportunity for health care IT professionals. As AI-driven diagnostics become more prevalent, IT teams will play a vital role in ensuring these tools are integrated seamlessly into health care systems. The future of rare disease diagnosis looks promising due to continued advancements in AI technology, offering the potential for faster diagnoses and improved patient care.

By Zac Amos, rehack.com

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Rare diseases are no longer rare. Every year, people’s lives are upended by a diagnosis of one of 6,000-8,000 identified rare conditions, which collectively affect one in 17 people. Because a majority are genetic and appear early, more than half of these patients are children, and many are not expected to reach their fifth birthday.

For patients left waiting, the stakes for new medicines are high. Yet, less than five percent of rare diseases have at least one approved treatment. Even when effective therapies and medicines exist, reaching the right patients in need is challenging. Survey data depicts a long and emotionally grueling journey for those awaiting a diagnosis. For adults, it can take up to five years, and half will receive a misdiagnosis.^[1]

Rare diseases challenge traditional ways of doing business. They require the industry to better identify target patient populations for trials and then keep them engaged during the course of the study, even across geographies. Once a medicine is approved, it is crucial to seamlessly transition from trials to treatment given the smaller patient cohort, as the physicians who conduct the trials often become prescribers.

The good news is that the industry is making great progress in how medicines for rare diseases are developed and brought to market. From delivering better site support during clinical studies to greater connectivity between medical and commercial teams, companies are breaking down historic silos and cutting the time to treatment. Along with richer healthcare data and effective medical education for physicians on symptoms and treatment options, these advances will help those undergoing complex patient journeys.

Greater focus on patient experience during studies

Over half of orphan drug trials are eventually discontinued or fail to publish results after completion.^[2] Often, studies can’t recruit or lead to inconclusive results. When a trial gets off the ground, sites have to invest significant time in keeping a small number of participants engaged.

Removing excessive system and process complexity will improve their efforts. For years, sites have voiced their concerns about the multiple disconnected tools they must navigate just to keep a study going. As one site leader explains, navigating unintuitive technology absorbs time from trial activities, and can make them feel like they’re asking too much from patients: “The technology shouldn’t be the trial itself, it should support the trial. It’s taking time away from what we want to do, which is taking care of our patients.” Simplifying the technology experience and reducing the admin burden will better meet sites’ and patients’ needs.

The knock-on effects could include better participant retention during rare disease trials. This may widen patient access to life-enhancing new treatments. Reflecting on her own experiences as a rare disease patient, Helen Shaw, co-founder of the virtual site VCTC, observes: “I see how hard it is to take part in a clinical trial for treatment. But patients do want that opportunity to be offered something that they wouldn’t get in their standard care, whether additional MRIs or new medicines.”

Data unlocks effective commercial execution

Data is core to understanding where the greatest patient needs are ahead of a launch. ADVANZ PHARMA is a global biopharma company focused on specialty, hospital, and rare disease medicines. Andy Eeckhout, head of CRM and digital solutions for global commercial excellence, explains: “It’s crucial to take a patient perspective. This means using real-time data to understand the patient journey and identify the two or three most influential key opinion leaders (KOLs) per country, so we can best communicate the product across markets.”

An added complexity is that rare diseases often involve multiple specialties. Medical science liaison (MSL) teams have to get up to speed quickly on complex science before meetings with relevant experts — while also being responsible for other (more mainstream) disease areas. “Our customer-facing teams need to be agile communicators and effectively switch to a more patient-oriented, in-depth scientific discussion than with generics,” Eeckhout explains. Access to scientific resources and activity data in one place leads to higher-quality conversations. “Pre-call planning is crucial for MSLs before and after launch. The more data they can find, including on past interactions, the better,” Eeckhout adds.

Depending on the disease, there could be a long gap before a patient presents with potential symptoms, at which point HCPs will want timely access to experts and resources. Smoother handovers between field medical and sales ensure HCPs can find answers quickly and connect to MSLs if needed. ADVANZ, for example, has launched a pre-launch module in its CRM so that market access, medical, and commercial teams can share information compliantly and effectively. Eeckhout notes: “Physicians need a direct line to the industry so they know who to contact when they have questions. Medical and commercial teams need to talk to each other and remain agile across customer conversations.”

Highly personalized content for HCPs is also key when targeting diseases with small patient populations. To be effective, marketing teams need clarity on the most impactful content to recommend for field visits across markets. For example, Recordati Rare Disease uses data analytics on its global repository of promotional and medical engagement tools, so it can support content use across a portfolio of 17 rare disease medicines of focus (and a growing global footprint). As its head of marketing and customer engagement, Gordon Daniels, notes, “How we engage with HCPs is critical. We need to know what percentage of our content is being developed and relevant to support different HCPs, whose patients rely on them for their rare disease diagnosis and management.”

Defy the odds, then beat them

Scientific breakthroughs that could bring hope to rare disease patients and their families come from organizations willing to embark on a long and risky trial-to-treatment pathway.

Companies are reducing the time to rare disease treatment through better support for sites, freeing them up to focus on patient recruitment and retention during trials. Once a drug is approved, connected technology and deep data can facilitate collaboration between functions that have not historically worked together so they can identify, engage, and provide medical education to relevant HCPs and KOLs.

Every rare disease patient faces a daunting journey. As one biotech leader points out: “Their diagnosis is with them every day. Often, they can’t pronounce the condition, and don’t know anyone else who has it.” Life sciences will do its part to help these patients defy the odds — and eventually beat them.

By Chris Moore, President, Veeva Europe

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The phrase ‘diagnostic odyssey’ is well known among those in the rare disease community, with a long and convoluted path to a definitive diagnosis being all too familiar. Figures show average waits of around seven years, but it’s much more than just a waiting game. Multiple referrals, rounds and rounds of testing, and potential misdiagnoses too. It’s no wonder that finally getting a diagnosis (remembering that there are some who may never get a diagnosis at all) can seem like the holy grail itself to patients and their families.

Sadly though, the moment that a diagnosis is made does not automatically alleviate the emotional burden on patients and their families. It is a psychologically complex event and can pose an equivalent ‘emotional odyssey’ all of its own. Initial feelings of relief at receiving a diagnosis can often dissipate quickly in exchange for feelings of loss, grief and anxiety. Parents and carers of children receiving a rare disease diagnosis are impacted in a unique way too. As Dr Tom Kenny, CEO of Rare Disease Research Partners, puts it: “Whatever their experience before a correct diagnosis, things change for individuals and their families irrevocably at the moment they are diagnosed with a rare disease. This moment stays with those affected for the rest of their lives”.

While this impact is recognised, there has been less focus on this part of the rare disease journey in both the research and practical guidance for professionals working in this space. Our recent project set out to change that, by zeroing in on the moment that a rare disease diagnosis is given. By looking at the available literature in conjunction with a panel of experts representing a range of different patient and professional perspectives, key themes were identified that were then taken into the development of a ‘Statement of Good Practice’.

The scope for this project was diagnoses of rare diseases made in infancy and childhood, as the information and guidance for these patients and their families is particularly scarce, though the findings and their implications are likely to be more widely applicable too.

The evidence base

A systematic literature review using the electronic database PubMed and reference listing resulted in 35 relevant research papers being brought together. It explored each aspect of the diagnosis journey and the elements which contribute to an increased risk of negative mental health outcomes for the individual and their family. Besides the impact of a prolonged path to the point of diagnosis, these include:-

Poor diagnostic delivery & lack of psychosocial support or counselling

The tone in which a rare diagnosis is delivered to an individual or their family has a heavy influence on their prospective journey. Some families have reported traumatic experiences at diagnosis, citing rushed delivery, lack of empathy, being left alone, or being left in a crowded room of professionals and of those professionals leaving mid-way through the diagnosis. Individuals have shown signs akin to PTSD following diagnosis. While there is unavoidable trauma associated with a rare disease diagnosis, there is avoidable trauma linked to the tone and manner of the delivery.

Conversely, the diagnosis could be seen as a turning point that could enable families to start adjusting to their new normality if handled more appropriately. Assessing psychological risk factors, teaching coping techniques and specific psychological and psycho-social interventions should all be services that patients can benefit from, as the literature demonstrates. Remembering to address practical needs and the needs of family members as well as the patient is vital too.

Information provision & lack of specialist knowledge from healthcare professionals

Experiences immediately after diagnosis were described as overwhelming, scary, and lonely, with little information or support from health care providers. The lack of good-quality information was described as disappointing, and patients and their families voiced frustration at the lack of specialist knowledge.

Many describe turning to online communities for support, with some parents of children with rare conditions describing online forums as a lifeline when navigating a new diagnosis. However, this brings with it its own set of challenges, with large volumes of unmanaged information, particularly on social media, potentially triggering sorrow through negative information or information overload.

The need for managed (curated) information is not limited to patients either. Resources to help with clinical care would be especially valuable, such as clinical guidelines on diagnosis and treatment, educational modules, and referral pathways.

Navigation of the healthcare system

Parents in families affected by rare diseases have a near-ubiquitous experience of problematic navigation of health care systems. Families feel particularly vulnerable due to the fact that collaboration and communication between healthcare service providers are often fragmented and unsatisfactory.

Parents describe the current healthcare system as being like a revolving door, in which they repeatedly enter and exit, each time having to tell their story to a different professional.  Most health systems leave people to attempt this navigation alone, and few have formal resources in place to facilitate smooth navigation.

A Statement of Good Practice for Rare Disease Diagnosis

Currently there are no published consensus guidelines on the type and extent of psychological support needed by families and caregivers of children affected by a rare disease diagnosis, at the time of diagnosis.

The literature review, combined with the input of experts in the field through a series of meetings and online discussions to gain consensus, enabled the development of a Statement of Good Practice.

Recommendations (with graded evidence) have been put forward for:-

• The delivery of a diagnosis
• Information provision
• Access to disease expertise and psychosocial support
• Facilitation of support networks
• Co-ordination of care

What next?

In the recent UK Rare Disease Action Plan, published on Rare Disease Day 2022 by the Department for Health & Social Care, there is an acknowledgement that people living with rare diseases and their families often have very specific needs for mental health support. While different countries will have different challenges and solutions to addressing this, the hope is that this piece of work will provide a universal foundation to inform future development of services, initiatives, and programmes delivered by the wide range of organisations involved in the rare disease space. Of course, the potential for application of new technology and digital tools to contribute here is clear.

With the recommended safeguards and practices in place, the long shadow that is cast by a sub-optimal diagnosis experience can be removed and the entire relationship a patient and their family has with their health condition could be transformed. That’s a goal surely worthy of pursuing.

By Emma Thorp Chief Growth Officer, RBW Consulting

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I know from first-hand experience after my eldest daughter, Amelie, was diagnosed with Tay-Sachs disease at just 15 months. Amelie sadly passed away in 2017 at the age of 8 and at the time of her diagnosis we found it incredibly hard to find the right information or know which resources to trust. In her honour, my wife and I set up a charity, Cure and Action for Tay-Sachs (CATS), in June 2011 to help families going through the same experiences we did.

Though there are over 7,000 known rare diseases in the UK, and one in seventeen people are expected to be affected by one within their lifetime, there is a significant lack of support available. Many have to undergo gruelling medical tests as part of the diagnostic odyssey. Once they receive their diagnosis, it is often extremely difficult to find reliable information on treatments, symptom management and local support.

We struggled with this when we were trying to learn more about Tay-Sachs after Amelie’s diagnosis which is the primary reason why we decided to set up a charity to unite our rare disease community. I still remember when we were given her diagnosis and not having an idea what the disease was or what her future would be. We were told it was a lysosomal storage disorder (whatever that meant) and that she would probably die before her third birthday after losing the ability to function independently. On my lap at the time of being told this was a babbling, smiling, happy little girl eating her favourite snack and there was no way we could imagine that she’d end up in a wheelchair, unable to sit, walk, talk, hear, see and requiring a tube directly into her tummy to eat. On top of this, we were told not to google the disease as it would be too scary to read online and were handed a standard NHS style leaflet that was very technical talking about enzyme levels, genetic mutations and death. As a young family with our first child it was frightening, confusing and distressing.

In order to help promote accurate, well-researched information from professionals for CATS, I joined the Cognitant team. Cognitant is the company behind Healthinote, the go-to source for trusted health information which enables clinicians to share health information prescriptions with patients. The organisation has committed to helping the rare disease community and is creating and collating education and resources with partners to enhance the Healthinote database of information for rare diseases.

Doctors can use Healthinote to share personalised information such as prescriptions and treatments directly with patients, meaning families receive help from the very beginning of their rare disease diagnosis. It helps doctors to create a patient subscription which enables people to view personalised, relevant content including videos. By ensuring that people get the right medical information at the right time by trusted GPs, it gives them access to customised medical support. As Rare Disease Day reminds us, families need to feel supported when dealing with complex illnesses.

All of the information within Healthinote is from trusted partners including advocacy groups such as Nieman-Pick UK (NPUK), Pompe Support Network, the NCBRS Foundation and the AKU Society. These advocacy groups and well-known charities reiterate the importance of the role they play in helping to manage the care of people.

The platform, which currently, connects over 3,000 practices with over 30 million people in the UK, also integrates with commonly used patient messaging tools. This makes it easily accessible without the need for any extra clicks or searching, creating a seamless user experience for both clinicians and patients.

I teamed up with Cognitant as their aims align some of the reasons we started CATS – to make sure families coping with rare disease understand more, feel supported and have reliable education and information.   Much like Rare Disease Day hopes to create a global community for everyone impacted by these illnesses, we too want to build a strong support system for families who are forced to confront rare disease. There is so much we can do to improve the experiences of those affected by rare disease by helping patients and their families learn, access helpful education resources and become empowered partners with their healthcare professionals. I’m excited about what the future holds for the rare disease community as companies like Cognitant move forward with their patient centric initiatives.

By Dan Lewi, Head of Business Development – Rare Disease, Cognitant and Co-founder and Chief Executive, The Cure & Action for Tay Sachs (CATS) Foundation

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Raremark’s platform is the foundation for building research networks of rare disease patients and their families. Raremark provides biopharmaceutical companies with access to anonymized and aggregated patient data, helping to reduce the time and cost of clinical development.

Julie Walters, CEO and founder of Raremark, said: “Healthcare is becoming increasingly personalized, and precision medicine is enabling the right treatments to be delivered to the right patients. However, accessing credible and structured, real-world patient data remains one of the most acute challenges facing drug development in rare disease.”

The Raremark platform engages and retains patients, leveraging machine-learning technologies in novel ways. The approach is designed to raise health literacy and informed participation in medical research, to improve the quality of existing therapies and to find new ones.

Lennart Hergel, Partner at Ananda Ventures, explained Raremark’s approach to addressing challenges in drug development: “Raremark has built a technology platform using content algorithms to boost engagement and advanced data analytics to understand the mechanisms, symptoms and heterogeneity of rare diseases. The resulting high-quality insights will enable companies to develop more effective treatments that are tailored to patients’ profiles.”

Dr Christoph Ruedig, Partner at AlbionVC, said:“The low prevalence of rare diseases throws up some unique challenges. The paucity of clinical experience and data leads to poor trial design, making it more difficult to demonstrate an acceptable efficacy and safety profile for a drug, delaying or even preventing it from reaching the market.”

Commenting on the value proposition to the biopharmaceutical industry, Helen Reynolds, Investment Director at the Cass Entrepreneurship Fund, said: “Raremark gets to the root of the problems familiar to all pharmaceutical companies, by boosting the quality of trials and improving drug development with data-driven intelligence. We are very excited about the company’s potential to transform rare disease treatments.”

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