Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment.

February 28 is Rare Disease Day, and to mark the occasion we have a very special interview to share. Stephen Kingsmore is leading a very particular charge in genetic diagnosis. He may be familiar to some as the man who solved the mystery of Elvis’ death, or for holding the world record for a super fast genetic diagnosis (26 hours all in). But as President of the Rady Children’s Institute for Genomic Medicine, Stephen is behind a powerful movement to make whole genome sequencing and diagnosis of critically ill newborns a standard and straightforward part of clinical practice. “Rare is common at Rady Children’s Hospital,” he explains. “When combined, the 8,000 named rare genetic diseases are a very large component of the healthcare we provide. Identifying which of the 8,000 diseases a child has is a huge bottleneck and the first that we plan to eradicate at Rady Children’s Institute for Genomic Medicine.”

Stephen Kingsmore

Stephen Kingsmore, M.D., D.Sc., President & CEO, Rady Children’s Institute for Genomic Medicine

What are you working on right now?

We’re doing a couple of things. Number one, we’re scaling up NICU/PICU/CVICU (neonatal, paediatric, and cardiovascular intensive care units) rapid genome sequencing to really make that a normal test for those babies. Number two, we’re working in parallel to do this for children with brain cancer, which is the leading cause of cancer death in children now. We’re focussed on doing rapid matched tumour normal germ line sequencing for those children so that their oncologist has the tumour information and mutation information in time, before they start therapy.

We’re also focussed on scaling up genome sequencing for other needy children in our hospital genetics clinics, children with autism, with neurodevelopment disabilities, these kinds of conditions.

What’s the biggest challenge you face in your work at the moment?

Our biggest challenge is that we don’t have enough people! We are recruiting additional people, but really we have more opportunity than we have bandwidth for. That’s a difficult thing to face when you know that we could be helping more children and we don’t have the staff yet.

Name one big development that you would like to see in your field the next 18 months.

If it hadn’t been for NovaSeq then I would have said I’d like an inexpensive very rapid sequencer!

I think the one thing that I would like technology-wise is better software for going from genome sequence to diagnosis. Right now the software systems that we have are not quite good enough to be scaled up to meet the needs of all the children that we could benefit. There is still way too much manual effort involved.

What are you most proud of in your career?

I’m very fortunate to be in the position that I am, and I’m very fortunate to have had some success, as a wee boy who grew up outside Bushmills in Northern Ireland. I’d like to keep this work going for another ten years or so and realise the potential of this technology.

Which scientists, living, dead, or fictional, would you invite to dinner, and why?

Francis Collins would certainly be up there. I’ve long admired him and he seems to be prescient; he skates well ahead of the curve and most of his prognostications pan out. I really like Eric Topol who lives just up the road, and I haven’t yet had dinner with him so I would certainly ask him to join us. And I’d definitely invite C. S. Lewis, who I think was the greatest Christian mind of the last century. I think he and Francis could have a very spirited discussion! I think if you had those three guys around a dinner table you wouldn’t get a word in edgewise.

What advice do you wish someone had given you at the start of your career?

Breathe! I wish somebody had told me to breathe. Most of my career it was frenetic, foot-to-the-floor effort, because I probably didn’t have enough faith in my ability to pull things off. I wish I had smelled the roses a bit, I wish I hadn’t written so many papers, I wish I hadn’t done so many projects, because it all would have panned out in the end.  


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Why not check out The Short Read archives?

George Church – “Follow your dreams, not the drove”

Amalio Telenti – Defying the “exome-centric” view

Anna Middleton – “It’s ok to be a bit creative and entrepreneurial”

Nan Doyle – “Get clear on what matters to you”  

David Smith – The “real keys to scientific success”

Hannes Smárason – The importance of Grit

Eric Topol – “Always question; never accept dogma”

Kristen Sund – “You don’t change culture overnight, it happens in baby steps”

Manuel Corpas – “Don’t rely on the future to make your choices now”

Brendan Gallagher – “Let your work’s ripple effects help sort the future out”

Hayley Robinson – When technology outpaces policy

Valentina Nardi – “Like a detective solving a puzzle”

Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution