Why Diagnosis Changes Everything in Rare Disease

Reflections from our Rare Is Real fireside discussion

Rare disease may affect small populations individually, but for patients and families it is a daily reality. That perspective sits at the heart of Rare Is Real, our initiative to elevate meaningful conversations around rare disease. As part of this commitment, we recently hosted Dr Nayana Lahiri, Clinical Geneticist at the SW Thames Centre for Genomic Medicine, to explore a central question: why does diagnosis change everything in rare disease?

From uncertainty to clarity

In Huntington’s disease, Dr Lahiri described how symptoms can vary widely and may at first be mistaken for mental health disorders, cognitive decline, or even behavioural issues. For individuals without a known family history, the journey to diagnosis can take years.

That period of uncertainty can be deeply destabilising. As Dr Lahiri explained, symptoms may “creep up over a period of time,” leaving people second-guessing themselves and unsure why changes are happening. When a genetic diagnosis is made, it does not necessarily bring easy answers, particularly where disease-modifying treatments are not yet available, but it does provide clarity. It connects patients and families to specialist clinics, support groups, and in some cases, provides avenues to clinical trials.

Rare disease is a family experience

A powerful theme from the discussion was that rare genetic conditions often affect entire families. When a rare condition emerges without a known family history, the path to diagnosis can be long and frustrating, with profound implications for siblings and the entire family dynamic. In Huntington’s disease, children may grow up witnessing a parent’s deterioration, and later face decisions around predictive testing themselves. The decision to undergo predictive testing is deeply personal, with family planning, life stage, and emotional readiness all playing a role. These realities reinforce the importance of careful, patient-centred counselling.

Inequities in genetic diagnosis

The discussion also examined the UK’s Genomic Medicine Service and the infrastructure supporting genetic testing nationwide. The UK’s Genomic Medicine Service provides a harmonised structure for genetic testing, supported by regional genetic services and laboratory hubs. This national infrastructure allows variant data to be compared across centres and supports rare disease registries that can accelerate research and clinical trial readiness.

In principle, this enables equitable access and data sharing across the country. However, as Dr Lahiri emphasised, infrastructure alone does not guarantee equity.

Patients from certain ethnic minority backgrounds may be less likely to seek healthcare or may face cultural barriers and fears around genetic conditions. Socioeconomic factors can also influence engagement with services and the ability to navigate complex healthcare systems.

Access to genetic testing also depends heavily on clinician awareness. Some specialists may question the utility of testing if it does not immediately change management. Mainstreaming genetic literacy across specialties is essential if patients are to benefit consistently from advances in genomic medicine.

Entering a new therapeutic era

Perhaps the most hopeful aspect of the conversation was the recognition that rare disease is entering a new phase. Dr Lahiri reflected that we are moving from an era defined by diagnosis alone to one increasingly shaped by therapeutic possibility. Advances in antisense oligonucleotides, gene-targeted approaches, and even “n-of-1” therapies are reshaping expectations in rare and ultra-rare conditions.

Yet progress brings challenges, from defining clinical meaningful endpoints and managing expectations around early trial data, to ensuring healthcare systems are equipped to deliver advanced therapies. Collaboration across clinicians, researchers, patient communities, and industry will be critical.

The role of partnership and communication

Throughout the discussion, a recurring theme was the importance of engaging patient communities early and meaningfully in research and clinical trial design. There was also a clear call to mainstream genetic literacy across specialties, enabling clinicians to integrate genetic testing into routine care. For industry, mapping natural history, understanding meaningful endpoints, and anticipating service redesign are critical to successful therapy introduction. Rare disease cannot be addressed in isolation; it requires coordinated, cross-sector effort.

Looking ahead

The fireside conversation underscored both the complexity and the opportunity within rare disease. Earlier diagnosis, stronger genomic testing infrastructure, and accelerating therapeutic pipelines are reshaping what is achievable.

At ApotheCom, we are committed to rare disease. Because Rare Is Real, we will continue to elevate informed dialogue, champion equitable access to diagnosis, and support collaboration across the rare disease ecosystem.

If you are seeking a strategic communications partner to navigate the complexity of rare disease, contact our specialist team at rareisreal@apothecom.com