Genomics has transformed the way we identify and understand rare conditions, which are often difficult to diagnose due to their complexity and rarity.
By analysing a person’s entire genetic code, genomics can pinpoint the exact genetic changes responsible for a rare disease, even when symptoms are unclear or overlap with other conditions. This is incredibly important for making diagnoses that were once impossible.
For those living with a rare condition, as well as their families, genomic testing presents numerous important advantages.
First and foremost, it can support earlier diagnosis, which is crucial for developing personalised treatment plans that can greatly enhance a patient’s quality of life. Identifying a rare condition early through genomic testing enables patients to access new therapies and have the opportunity to take part in clinical trials, which can be vital in addressing or managing their condition.
Ensuring fair access to genomic testing means that individuals with rare conditions are given the same chances for appropriate and effective care as those with more common diseases, to enhance patient outcomes and also drives research into new therapies and potential breakthroughs for the future.
In addition to potentially providing a diagnosis, genomic information can guide treatment decisions. By pinpointing the specific nature of a rare condition, healthcare providers can customise treatment and management approaches to help minimise symptoms and prevent complications. This access to testing can also significantly shorten the diagnostic process, providing families with clarity and direction sooner.
Ensuring fair access to genomic testing means that individuals with rare conditions are given the same chances for appropriate and effective care as those with more common diseases.
Genomics can be incredibly valuable for making diagnoses that were once impossible. However, there are still some challenges.
Unfortunately, not all rare conditions can be diagnosed through genomics, though it has significantly improved the chances of finding a diagnosis for many patients. For some individuals, a genomic test may come back inconclusive or negative, meaning no clear genetic cause for their symptoms is found. ​
Even when a diagnosis cannot be made immediately, ongoing research and the rapid evolution of genomic technologies mean that some patients may receive answers later as new discoveries are made.
Ultimately, genomics offers individuals with rare conditions a clearer path forward, providing answers, connecting them with the right care, and offering hope for improved treatment options​.
NHS Rare and inherited disease Genomic Network of Excellence
Launched in April 2024, there is now a national NHS Rare and inherited disease Genomic Network of Excellence, whose primary aim is to help patients get a diagnosis faster; reduce genomic health inequalities; develop new testing approaches, especially for those patients with a suspected rare disease that remain undiagnosed using current genomic testing in the NHS GMS; increase the efficiency of analysis; and increase capacity for rare condition clinical trials.
The North West Genomic Medicine Service Alliance is a co-lead for this network. If you would like to know more than please click on the link below or email contactus@nw-gmsa.nhs.uk