As you may imagine, I have a deeply personal interest in epilepsy. Inspired by my daughter’s battle with the condition, I moved to Congenica, a digital health company also on the Wellcome Genome Campus, in 2016 to align myself more closely with the patient. Congenica specialises in investigating the genomic basis for rare diseases and I am currently the company’s Patient Advocacy and Engagement lead.
I have been lucky to follow the journey of the human genome from its very early days to the present day when genomics is now being used increasingly in the clinic. I’ve also been able to see how techniques to generate genomes have changed unbelievably during this period. Originally, mapping the human genome was estimated to take at least 50 years with the technologies available in the 1990s, yet currently, we can read a person’s genome in a matter of hours. However, interpretation of genetic data remains the bottleneck in genomics-based diagnostics, which is where Congenica’s expertise can help speed this process up rapidly.
Clinical genomics is a new approach to practicing medicine in which healthcare professionals use information on patients’ genetic makeup to diagnose, treat and prevent disease. Diseases can be caused by a single DNA mutation, such as cystic fibrosis, or much larger chromosomal changes, such as Down syndrome. DNA contains a large amount of information and not all sequence changes cause disease. Accurately identifying a true disease-causing mutation can be extremely challenging, but it is of the utmost importance for diagnosis and offers opportunities for developing new treatments that are targeted to specific mutations. Additionally, implementing genomics data in the clinic facilitates the provision of the right type of medication for the patients that avoids unwanted side effects and increases the chance of success.
In fact, the ability to provide a swift genome analysis for critically ill babies with epilepsy may help guide the correct medication. Such early intervention may prevent irreversible malfunctioning of the brain, as well as preventing many painful and invasive procedures.
Today, the potential benefit of using genetic data in the clinic is appreciated equally by scientists, healthcare professionals and politicians. There are now many national efforts with the intention of accelerating the clinical genomics implementation in the healthcare sector. One prominent example is Genomics England’s 100,000 Genomes Project from the UK’s National Health Service, which is providing genetic insights into disease diagnoses, in some cases where diseases are so rare that no diagnosis was previously available.
I am passionate about clinical genomics, and particularly the 100,000 Genomes Project, as Congenica is a collaborator of this pioneering program and my family have been through the study to see if my daughter’s epilepsy has a genetic diagnosis. So far, we have not been able to find anything to explain it, but through research, we will continue to search for answers!
– Dr Charles Steward