Dr Demetra Georgiou and Dr Fleur van Dijk
Clinical genetics is a medical specialty with focus on diagnosis, management and counselling of individuals and families affected by or at risk of monogenic conditions. Access to diagnostic genetic testing has significantly improved in England with the inception of the Genome Medicine Service, enabling genetic testing including diagnostic whole genome sequencing for a variety of conditions. However, clinical problems remain, including detection of variants of unknown significance, individuals with no identified genetic cause despite a strong clinical suspicion, and lack of therapeutic agents for many monogenic conditions. Our theme will keep raising questions that we think are of interest to clinical and academic researchers with different expertise and will benefit the patients that we see.