“You don’t change culture overnight, it happens in baby steps” – Kristen Sund
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.
How do you integrate genomics into healthcare? A simple question, but the answer is vast and complex and uniquely challenging. In last week’s edition of The Short Read, Eric Topol touched on some of the challenges around patient data, and the increasing digitisation of healthcare. This week, Kristen Sund of Cincinnati Children’s Hospital shares her work on the front lines, overseeing a vast array of projects and initiatives to make precision care a reality for patients, from building relationships between clinicians and clinical researchers, to developing the data infrastructure that makes everything possible.
What are you working on right now?
As the Point Person for Institutional Genomic Initiatives at Cincinnati Children’s Hospital, I have my fingers on the pulse of most things genomic at our institution, but there are a few projects that claim the majority of my time. Our Center for Pediatric Genomics organizes genomics initiatives throughout the institution and connects our clinicians and researchers to the genomics resources they need to optimize clinical care and research. In our research community, we give $1 million annually in pilot project funding. With more than 127 applications in three rounds, we learn directly from our researchers about the types of genomics studies they envision or have already undertaken. We also work to define infrastructure needs and create tools to fill those gaps, such as VIVA, a user-friendly, secure, quality controlled central data commons at Cincinnati Children’s.
In our clinical community, we have launched our Grassroots Genomics initiative as the foundation of our educational and awareness strategy. Through Grassroots Genomics, we present to sub-specialty faculty meetings across the medical center to discover first-hand what our internal community would like to learn about genomics. We provide an overview of institutional genomics efforts, administer a 30-question survey on genomics, and initiate a conversation about current and aspirational uses. We are using the session and survey results to design an educational series in four parts: Genomics in the News, Genomics in Patient Care, Genomics in Translational and Basic Research, and Genomics in the Community. Each part is preceded by a Grassroots survey to ensure that the audience, which ranges from clinicians to basic researchers to consumers, is receiving the genomics content that will optimize their genomics knowledge and engagement. The most valuable outcomes of this awareness strategy has been initiating dialogue, raising awareness, and establishing a sense of shared community with clinicians and clinical researchers. These efforts have already increased and strengthened connection of clinicians to clinical and research assets across the institution, and will similarly connect our basic researchers and patient/families in the future.
The other major effort is an external collaboration between Cincinnati Children’s, Boston Children’s Hospital and Children’s Hospital of Philadelphia. GRIN (Genomic Research and Innovation Network) is a pediatric academic alliance focused on data, access and expertise. GRIN’s vision is to accelerate genomic discoveries in pediatric populations by creating aligned infrastructures for cohort expansion and data access across children’s hospitals. One of the most significant barriers to research in pediatric precision medicine is the ability to identify sufficiently large patient cohorts with deep phenotyping and consistently processed genetic data. The extreme phenotypes found in pediatric patients represent a tremendous opportunity for understanding many aspects of disease, but steps need to be taken to build collaboration and align the infrastructure needed to optimize discovery. Under lessons learned from three pilot projects in the last year, we focused on aligning elements of institutional consent and protocols, and standardizing (1.) language for phenotypic data collection (2.) genomic data processing, and (3.) elements of sample metadata. In the future, we hope to expand to other pediatric sites so that the cumulative data and synergistic expertise can improve the next generation of care for kids. You can follow GRIN progress at http://grinnetwork.org.
Whenever I get some spare time, I really enjoy ongoing involvement in translational research. My overarching research interest focuses on the application of the latest genetics technology in patient care. I am excited about the future of genetics/genomics in healthcare and look forward to being part of the team that brings bring precision care to pediatrics.
What’s the biggest challenge you face in your work at the moment?
One of the biggest challenges for me is pace. Nothing ever moves quickly enough for me. I see grand potential, and I want action, so I am largely frustrated when implementation goes slowly. But there are good reasons for this. You don’t change culture overnight, it happens in baby steps. I need to learn to take joy in the small victories. If the work was easy I would be bored. As it stands now, the work is difficult, and I need to be more patient.
Name one big development that you would like to see in your field the next 18 months.
I have very realistic expectations for the next 18 months. With my clinical research interest in the application of the latest genetics/genomics technology in patient care, I very much anticipate the launch of long read sequencing for clinical testing. I cannot wait to see how the field implements this technology over time. I also look forward to the implementation of multi-omic clinical testing, but that time frame goes further out.
What are you most proud of in your career?
I have had individual triumphs that meant a lot to me, but I am most proud of my continuing focus on patients/families and my work ethic. Since I have worked in different capacities throughout the hospital, as a genetic counsellor, in the clinical laboratory, as a researcher, and now as an administrator, my role as an influencer and as a decision maker has changed. My focus on patients/families helps me to remain centered and gives me strength to stand up and be heard. I am here to improve the lives of the patients/families that come to Cincinnati Children’s, and I cannot wait to see what genomics (and the other omics) will do to improve care for these kids.
Which scientists, living, dead, or fictional, would you invite to dinner, and why?
I am glad this says scientists instead of scientist because that makes it possible to answer this question. I have followed Heidi Rehm since the early days of ISCA and watched it evolve to ClinGen and Matchmaker exchange. These programs plus GA4GH and many more have placed her at the center of the evolving culture of genomics in academia, and I admire her tremendously. I would also enjoy the company of Craig Venter because he is on the cutting edge of what is possible with genomics. He also seems to like to stoke the fire, and I could use a little controversy in my life. So maybe I should invite George Church too? I doubt we would agree on everything, but I think it is critical to have respectful conversations with people who have different perspectives. My historical choices would be Charles Darwin and Oliver Sacks. From the patient scientist perspective I would invite Sonia Vallabh and Eric Minikel to hear their story from their perspective. I think this would make for an exciting dinner.
What advice do you wish someone had given you at the start of your career?
A few things come to mind. My dad always says—“Do what you love and the money will follow.” It took me a while to figure out that genetics is the topic I love, but the time investment early on was worth it, and I expect my entire career to be in this space, even if my job title changes. You have to remember that your life balance will include spending just as much time at work as with your family. I look at pictures of my kids at work, and I feel OK because I am doing something I love, and I am teaching them the importance of dedication, work ethic and making a difference. I also stress that failure—without learning—is not an option. Failure is an option, in fact a requirement to move forward in anything you do. I usually learn more when I fail than when I succeed. So you must fail to grow. But you must learn when you fail in order to grow.
Who would you like to see interviewed for The Short Read? Let us know via firstname.lastname@example.org!
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”
Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution