Patient-centricity in pharma is of the moment, but in the rare disease space it has been a reality for many years

Rare cancers are a paradoxically common problem, representing about a fifth of all cases of cancer in the UK.

But median survival time for patients with rare cancer is typically poor and, unlike most common cancers, is not improving. The challenge is that we simply don’t know as much about rare cancers.

By their nature they affect fewer people, which has a knock-on effect for the progress and funding of clinical research. However, this is slowly changing – patients are being empowered to take control of their health and the digital landscape is enabling them to advocate for and participate in rare cancer research.

The growing role of patient-centricity

Over time, healthcare has evolved from being ‘reactive’ to care that follows the P4 medicine structure – predictive, preventive, personalised and participatory. The final P, participatory, means that patients are being included and empowered to take control of their own health in conjunction with clinicians, researchers and funders.

Patient-centricity in pharma is of the moment, but in the rare disease space it has been a reality for many years. For research into rare cancers, true patient engagement is critical for every step of treatment development, from clinical trials and regulatory approval to patient diagnosis and treatment adherence.

The heterogeneity of rare cancer makes it complex to assess in a one-size-fits-all way. The limitations of available therapeutic options justify an individualistic, patient-centric approach. Patients are effectively ambassadors for their rare disease and can help to prioritise their unmet needs, including symptoms of pain, affected mobility or the impact on their mental health.

The challenge with rare cancer research

There are more than 200 types of cancer and, worldwide, rare cancers make up 22% of cancers that are diagnosed each year. Yet, I think it is fair to say that rare cancers represent the greatest inequality in cancer research and treatment in the developed world.

Overall, patients with rare forms of cancer respond less well to treatment and have a lower chance of living five years from the time of their diagnosis than patients with common cancers. However, the prognosis is very variable between types ranging from over 90% for some forms of skin and testicular cancer, to less than 20% for cancers of the liver and gallbladder .

To complicate matters further, genetic differences between cancers in the same histological group can have a profound influence on response to treatment. A good example is provided by the gastrointestinal stromal tumours. Many respond extremely well to treatment with Imatinib due to the presence of a mutation in the gene which drives the tumour- c-KIT or PDGFR . Unfortunately, the outcome for the 15% of patients who have tumours without this mutation is far less certain, leading to intensive efforts by patient advocate organisations, such as GIST Cancer UK, to promote and support research into finding new treatment options.

Operationalising a study in a rare cancer has many challenges, and the feasibility is often viewed as a barrier for decision-making. Historically, finding enough people with rare cancer who are willing to take part in research and trials of new drugs has been difficult. This reduces the attractiveness of researching rarer forms of cancer for academic researchers and the pharmaceutical industry. Which in turn means there is less research completed and fewer treatments available.

However, we are starting to see a shift. Today there are 740 global life sciences companies investing in 950 products that include a rare cancer target. This translates into an accelerating number of clinical trials taking place, all requiring access to consenting patients. Despite a challenging diagnosis, through my work at RareCan, I am coming across more and more individuals living with rare cancers who are well informed about their condition, and have a desire to be involved when it comes to potential advances in the area.

Digitally empowered patients

The internet has radically enhanced capabilities for collecting, integrating, storing, analysing and communicating health data and information. Throughout the pandemic, we’ve seen this bring benefits to the research community. The NHS DigiTrials are a great example, providing University of Oxford researchers with data on trial participants from hospitals across England from a single source, leading to the finding that the steroid dexamethasone helps patients with severe COVID-19. We’ve also seen its impacts on the public, with the UK vaccines registry offering people from all corners of the UK the opportunity to participate in landmark vaccine trials.

But can we translate this into the rare cancer community? The answer is an emphatic yes. The future of rare cancer research relies on individuals with a rare cancer diagnosis becoming digitally empowered, enabling them to discover trials, expertise, and communities, just like RareCan or those more specific to their condition, like GIST Cancer UK – a network of patients and carers offering advice, knowledge and opportunities.

There are now websites, such as GiveMySample, that provide patients with impartial, basic information about the use of samples in medical research which can help to inform their decision regarding consent to tissue donation. This includes possible areas of concern such as the analysis of genetic information, the export of tissues overseas, studies involving commercial partners and the use of animals in research procedures. The process of linked anonymisation is explained alongside a description of the way in which measures are taken to protect their confidentiality.

Rare cancer research can also leverage new developments in electronic consent processes or use digital innovations to help decentralise trials, which allow patients to stay local rather than travel to larger, urban locations where trials are traditionally based. I am hopeful that the step change needed in the rare cancer community to connect researchers with consenting patients and data can be reached, bringing us closer to improvements in the prevention, diagnosis and treatment of these diseases.

What the future looks like

Working together as a diverse community of patients, researchers and funders is now an important and expected component of cancer research. The digital landscape is making it easier for patients to get involved in their own care. However, even with our evolving infrastructure and systems, there are still research barriers to overcome. We must ensure everyone with a rare cancer can explore research opportunities and make informed decisions about participating in the research that is relevant to their diagnosis.

We need to integrate research into day-to-day care and make use of new technologies to recruit people – making participation as easy as possible. Rare cancer patients must also be routinely involved in the design of clinical research, to ensure outcomes match their needs and studies are designed with the realities of their daily lives in mind.

We are at a pivotal time where people with rare cancers are finding virtual communities. They are able to share their clinical, tumour and genetic data with researchers, and researchers can access and connect these data sets and samples to speed up discovery of diagnostics and treatments – this is the exciting and promising future of rare cancer research.

Professor Andy Hall is co-founder and chief scientific officer of RareCan