A dual perspective on genomic medicine
Dr Charles Steward is the Patient Advocacy & Patient Engagement Lead at Congenica a digital health company based on the Wellcome Genome Campus UK. He has spent 26 years working on the human genome and led initial human chromosome 10 annotation and analysis (Deloukas et al, Nature 2004).
Little did Charlie realise that his extensive knowledge of genetics would be valuable in his personal life. Both of his children, Imogen and Jasper, are affected by neurological challenges and the family have been participants in both the Deciphering Developmental Disorders Study and the 100,000 Genomes Project.
Since then Charlie has led an international collaboration investigating developmental and epileptic encephalopathy-associated genes (Steward et al., Nature Partner Journal – Genomics Medicine 2019) and is a member of the 100,000 GP Patient Participation Panel.
With genomic medicine becoming increasingly integrated into healthcare, it is clear that clinicians will not only have to understand these techniques but also to be able to explain them to their patients. It is also essential to understand that strengths and weaknesses of genomic medicine and that, while a genomic diagnosis might not necessarily have a direct impact on the patient, it might inform as to why a patient has a disorder or whether a family is likely to have another child with a similar disorder. It can also bring about psychological closure, removing guilt from parents who might think that their child’s difficulties were a result of something they did during pregnancy.
Dr Charles Steward
Our CEO, Dr Lucy McKay recently interviewed Charles about his work with Congenica, his family’s journey and the importance of a genetic diagnosis. Please note that this interview contains videos of Imogen having seizures and Charlie making a 999 call.
As genomic technology matures, the opportunities for therapy based upon a person’s genomic makeup will become greater and greater such that we will truly enter the age of personalised medicine.
Dr Charles Steward
Congenica are a digital health company enabling genomic medicine with the world’s leading clinical decision support platform for the rapid analysis and interpretation of genomic data.
