What is your job title?
Where do you work?
Genetics, Great Ormond Street Hospital
What is your specialism?
How did you become a Clinical Scientist?
What does your role involve?
Genetic variant interpretation, confirmation analysis and drafting of clinical and research reports for the 100,000 genomes project.
What does a typical day look like in your role?
My role is computer based so I am at a desk rather than in the laboratory. One of the main tasks is to go through cases looking at the genetics variants that were detected and using the sequencing interpretation guidelines, various software and relevant gene/variant literature I classify them into relevant categories, from benign to pathogenic. Some variants require further clinical discussion so these are taken to a multidisciplinary meeting. Further testing is sometimes necessary to confirm a variant or acquire further information relevant to interpretation and classification. I arrange this and am involved in some of the analysis. Once a final decision is reached I will draft the report. This is another major part of my role as it is an opportunity to review the interpretation and make recommendations for further testing or referal if appropriate. I receive emails from clinicians throughout the day requesting additional gene panels be applied to the whole genome sequence data or to provide additional clinical information relevant to interpretation. Some days are broken up with department meetings, journal clubs and lunchtime presentations. These are a great way to stay up to date with a rapidly changing field.
What is the best bit of your role?
I work with a fantastic team that are both supportive and knowledgeable. Getting their opinion on something is invaluable and I enjoy sharing what I have learned with the trainee’s when they come across something new to them.
What advice would you give to someone who is thinking of moving from a practitioner to a scientist role?
Start with the straightforward and build up to the complex. Ask as many questions of as many people as possible, this will give you a broader perspective.