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 Graeme Black, Professor of Genetics and Ophthalmology at the University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, and Strategic Director of the Manchester Centre for Genomic Medicine.
What has been the main focus of your work to date?
My clinical interest is diagnosis and clinical management of individuals with rare inherited disorders causing visual disability. I oversee a large tertiary clinical service in Manchester contributing to, and leading, services that include paediatric, retinal and general genetic ophthalmic clinics. This represents one of the largest clinical services in the UK and links closely to ophthalmic imaging and electrodiagnostic testing. I contribute to a large multidisciplinary team encompassing clinical service, molecular diagnostics and translational research.
What are you most excited about in genetic medicine?
I have been working in genetics since my PhD, which is now over a quarter of a century. Having started by discovering and sequencing tiny parts of the X chromosome we are now able to sequence whole genomes. This is a fantastic leap and one that brings with it massive benefits. As an example, in 2010, our diagnostic tests were not designed for patients with inherited eye diseases as they were too complex. But we now have a diagnostic rate of over 80% for early onset retinal disorders.
What are you most concerned about in genetic medicine?
The inequality in diagnosis across different part of the UK and indeed between different countries. Although this is partly a result of technology, it is also due to a heavy reliance on a small number of experts.
Why did you get involved in TGMI?
I see the TGMI as an opportunity to roll genomic medicine out across different specialties, such as my own in ophthalmology.
What is the most important thing that you would like the TGMI to achieve?
It is possible to imagine that for a large number of my patients (although not a majority) a genetic or genomic diagnosis can be made with relative ease. (Well, I think so anyway. Many do not agree!) This requires an agreed and standardised approach and would integrate genomic and phenotypic information. While of course this will need initially to be implemented by experts, I would hope that it could be ‘allowed out’ into the mainstream over a short time frame. To do this, and as a first step, I should like to see us beginning to demystify the processes underlying variant interpretation.
If you had a magic wand (i.e. unlimited people/resources) what would you do to make genetic medicine work?
I would give hospitals a realistic budget for IT development.
Do you have a favourite gene? If so – what and why?
BEST1, which encodes Bestrophin-1. With colleagues in London (Andrew Webster) and Belgium (Bart Leroy) we discovered a novel disease, explained its molecular basis and described some of the most exquisite genotype-phenotype correlations that I know about. And because it affects the retinal pigment epithelium you could imagine that one day it might be amenable to therapy.
What is a surprising fact that few people know about you?
That I’m willing to share? I spend some of my time taking photos.
If you had a chance to experience a completely different career for a week, what job would you try?
Landscape photographer. If that’s a career?