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 Elise Ruark, who is a Senior Statistican and Bioinformatician in the TGMI team.
What has been the main focus of your work to date?
I have been either learning or working as a statistician/bioinformatician/all-around data detective for over 10 years. Since starting at the Institute of Cancer Research in 2010, I’ve worked on discovering and characterising disease genes, developing pipelines and analyses for exome sequencing data, and providing clinical gene testing through both TGLclinical and the Mainstreaming Cancer Genetics programme.
No matter the application, I believe strongly in applying evidence-based approaches using sound data practices to deliver clear objectives. There’s a lot of data out there, with a lot of powerful answers – if we ask the right questions!
What are you most excited about in genetic medicine?
We are in a time when many more people can be tested at much lower cost than ever before. This allows us to deliver real benefits to people in new and expanded ways.
What are you most concerned about in genetic medicine?
Currently, inconsistencies at a number of different points can result in individuals with the same result, sometimes even from the same family, receiving vastly different care. We need to ensure we’re using standardised tools, resources and approaches so that the delivery of genetic medicine in the era of genomics is as consistent and equitable as possible.
Why did you get involved in TGMI?
The focus on making genetic medicine work alongside a broad group of experts who believe in maximising benefits while minimising harm.
What is the most important thing that you would like the TGMI to achieve?
Easy-to-use, open resources that encourage and facilitate useful data sharing, particularly for clinical labs. I think this is one of the best ways to improve the information and thus the quality of what we can deliver in genetic medicine.
Do you have a favourite gene? If so – what and why?
After spending so much time working with exomes, I really shouldn’t play favourites, and each gene will tell a completely different story. But I’ll always have a fondness for PPM1D, the disease gene I worked on as part of my PhD. At the time it challenged my basic assumptions about typical genetic mechanisms for predisposition, and there’s still a lot to learn.
What is a surprising fact that few people know about you?
I had a fantastic time working with a great group of folks to successfully campaign for the creation of the Women’s Resources Center at my alma mater, the University of Illinois, Urbana-Champaign.
If you had a chance to experience a completely different career for a week, what job would you try?
Librarians are my earliest heroes; they’re true radicals and champions of free speech and education. I’d love to spend a week at either the Library of Congress or the British Library.