For many patients and families who, after a long sequence of investigations and referrals, have an eventual diagnosis of a rare disorder, the so-called ’diagnostic odyssey‘ is exactly that – a protracted and arduous journey to find answers about their condition. The 2013 UK Rare Disease Strategy from the Department of Health highlighted that in a survey of 8 rare diseases, 25% of patients identified a gap of between five and 30 years between getting their first symptoms and diagnosis. As rare diseases now affect approximately 3.5 million people in the UK – or one in 17 people, finding a way to expedite a diagnosis has never been more important. It is here that genomics is set to play an increasingly significant role: we have made vast advances in our understanding of genetic technologies and their potential applications. By facilitating a wider and more detailed examination of the genome, new sequencing technologies may be used to speed up diagnosis, tailor treatment and ultimately to end the diagnostic odyssey altogether. At the PHG Foundation, we believe that genomics should sit at the heart of any debate about diagnosis, prevention and treatment of rare diseases. We support the development of diagnostic genetic panel tests for a larger variety and number of rare conditions, and advocate using such tests much earlier in the clinical pathway and in a clinically appropriate manner. It is our view that in order to plan for a more widespread use of genomics in this context, the NHS must ensure that two specific issues are addressed:
- That the diagnostic algorithms focus on clinical utility.
- That the NHS has adequate specialised services, poised to react to a diagnosis – once the panel results come back to the generalist physician.
Investing time into planning these diagnostic and care pathways, and in facilitating appropriate specialised care will inevitably pay off, preventing a diagnostic odyssey and ultimately improving clinical care. We are committed to informing the discussion on genomics and diagnostics at national level: we have contributed to the National Screening Review, submitted a consultation to the Science and Technology Committee on Screening, sit on the Rare Diseases Stakeholder Forum, the NICE Diagnostics Advisory Committee and the Rare Disease Service Improvement Group at the UK Genetic Testing Network (UKGTN), to name but a few.
There is no better time to harness the potential benefits of genomics for rare disease and apply them to the healthcare context, and we look forward to the difference this will make to patients in the long run.