Every month, one member of the TGMI team will tell us why they are so committed to the vision of the TGMI, and share a bit more about their work and interests. This week we hear from Dominic McMullan, Consultant Clinical Scientist and Head of the Germline Genomics Programme at the West Midlands Regional Genetics Laboratories in Birmingham.
What has been the main focus of your work to date?
I am a Clinical Scientist who has been fortunate to have worked in a wide range of areas in diagnostic genetics and now genomics; cytogenetics, haemato-oncology and in the last 10 years or so, copy number and sequence analysis in developmental disorders – using microarrays, exomes and now whole genomes from the 100,000 Genomes Project. I am still fascinated by undiscovered or poorly detected structural variation which will be increasingly revealed by improvements in technology and bioinformatics.
What are you most excited about in genetic medicine?
In a nutshell, ending diagnostic odysseys, providing lifesaving choices and curing cancer.
What are you most concerned about in genetic medicine?
The hype that the above is all easily provided already in a fully automated way. Genomic medicine multi-disciplinary teams really need to be supported and resourced to ensure safe practice. It is a team effort and there is a role for experts!
Why did you get involved in TGMI?
Inspirational team and the opportunity to link clinical science into the initiatives. The ethos of improving quality and increasing safety.
What is the most important thing that you would like the TGMI to achieve?
That this ethos of improving quality and increasing safety delivers real benefits to the NHS Genomic Medicine service.
If you had a magic wand (i.e. unlimited people/resources) what would you do to make genetic medicine work?
It has to be ensuring that all diagnostic grade data is seamlessly connected and curated into a global resource. Some great efforts and initiatives around this are led by TGMI team members but so much data still remains unshared.
Do you have a favourite gene? If so – what and why?
Probably WWOX – simply because of its importance in a very large family we have provided answers for in the West Midlands. It is also interesting in that it causes 3 different conditions (including a very severe, often lethal epileptic encephalopathy) depending on combination of variant mechanism. We found a “founder CNV” specific to a number of families originating from an isolated Pakistani community
What is a surprising fact that few people know about you?
I like experimental electronic music.
If you had a chance to experience a completely different career for a week, what job would you try?
A member of Kraftwerk in the 1970s – re-inventing modern music by inventing (musical) sequencers in a large secret studio (lab). Or an architect.