Dr Charles Steward has worked in the field of human genomics – the study of a person’s entire DNA, for more than 30 years. Charles spent 22 of those years at the Wellcome Sanger Institute, working on projects identifying the structure and function of genes in the human genome. It is also where he completed his PhD. When his daughter was diagnosed with a rare and very serious form of epilepsy at the age of eight months, he began to target his research towards rare neurological disorders while also advocating for patients with such conditions. He then moved to Congenica in 2016, a clinical genomics company that specialises in diagnosing patients with rare disorders and then latterly to Genomics England as Head of Patient and Participant Engagement.
I have been lucky to follow the journey of the human genome from its very early days to the present day where genomics is now being used increasingly in the clinic. Clinical genomics is a new approach to practising 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 variant, 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 variant 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 variants. 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 may help guide the correct medication or healthcare pathway. Such early intervention may prevent irreversible symptoms, 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.
However, for clinical genomics to have the most impact, the concerns and wishes of patients are paramount. The patient voice is essential in many aspects of healthcare and in planning research. Patients and families must be able to let researchers and healthcare professionals know what it is they want from their work. What a healthcare professional and researcher deem to be important can be very different to what a patient wants. Patients can also help bring healthcare professionals and scientists together to have conversations that might not normally be had, as can be seen from disease- and gene-specific support groups, some of whom are already actively involved in therapy development, while they can also encourage other families to participate in research studies when available. Patients and families live with their conditions 24 hours a day, and this often empowers them to become world-leading authorities on their condition. Consequently, patients are often great champions for their conditions and raise money to fund research, provide information about their condition and support other people who are affected.
New advances in genomic medicine, as well as ease of communication enabling patients to find/interact with others on an international scale, means that the future for patients and families with rare diseases grows more promising. As such, patients are increasingly empowered to advocate for their rare disease, raising awareness, funding for research, and driving better healthcare, because ultimately, the patient is the hub around which all healthcare procedures fit.
Over the years, I have supported many patients and patient groups to set up their own advocacy groups, including CRELD1, VAMP2 and UKRET. They’ve had some amazing successes too, bringing together world-leading clinicians and researchers to raise significant amounts of funding to research their disorders with the ultimate goal of developing therapies. You can read more about these initiatives on their websites in their own words.