With 10K Genomes Sequenced, Genomics England in High Gear: Clare Turnbull, Clinical Lead

Clare Turnbull, Clinical Lead for 100KGP Cancer Program, Genomics England

Chapters:

0:00 What’s the overall goal at Genomics England?

5:27 Is genomic medicine taking off over there?

9:09 What is your approach to standards and protocols?

13:17 What paradigm shifts are you working to bring about within the NHS?

17:08 A culture of data sharing?

20:11 Informatics infrastructure a challenge

23:17 How do you decide when to sequence a genome?

We’ve heard on the program over the past few years that genomic medicine will probably take off first in a country with a centralized health service. And when the U.K. announced their 100K Genomes Project at the end of 2012 with the creation of Genomics England in 2013, it was certainly a bold visionary move to do just that—to put the entire country on a progressive path toward precision medicine for all.

So with 10K genomes sequenced, how is the project going?

“We’re still early days in the program in delivering it,” says today’s guest, Clare Turnbull, Clinical Lead for the Cancer Program. "Because the National Health Service in England is a single health care provider, it is possible to leverage carrots and sticks to make sure things happen. This gives us a lot more opportunity to effect change than in a more disparate service such as in the U.S.”

What are those carrots and sticks? What new paradigm shifts must take place, and what are the biggest challenges?

Beginning with rare diseases and cancer in this first project, the overall goal, Clare says, is to bring next generation sequencing technologies "full scale in their entirety into our healthcare service, and build all the structures that are necessary to use these types of tests--in particular, whole genomes--as routine investigations in every patient in every hospital within our service.”

Clare says she is a fan of Mendelspod because we provide "a very American perspective" on the same challenges and opportunities.



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