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San Diego Leads Groundbreaking Genomics Research

Community participants receive whole genome sequencing, results and experiential education in first pilot of its kind

San Diego Leads Groundbreaking Genomics Research
30 March 2016

Community-based genomics research made a giant leap forward at the end of March when 70 study participants representing San Diego’s demographics gathered to learn about and visualize their own genomes. They also heard from genetic experts about what their participation means for the future of the field and potentially for medicine – beyond their individual participation, beyond their families and for society.

The research study is part of a unique partnership between the San Diego Blood Bank and Illumina to introduce genomics into the community in a much more inclusive way.  In the spirit of the nation’s Precision Medicine Initiative, the goal of the program is to further understanding of human genetics and the impact of genetics on health in a diverse population.

It all began last November during the 37th Annual Chargers Blood Drive, when the 70 participants donated an extra tube of blood to have their whole genome sequenced. The San Diego Blood Bank recruited the donors, and Illumina offered the sequencing via its clinical laboratory.

“San Diego Blood Bank donors engage so selflessly and altruistically. They are blazing new ground when it comes to the question – how can we have even greater impact on our community’s health?” said David Wellis, CEO of the San Diego Blood Bank. “This pilot study has implications well beyond San Diego, well beyond a single community. There has been so much interest in this project, it’s just the tip of the iceberg.”

“The diversity in this cohort and their interest in engaging with genomics really make this effort unique,” said Dawn Barry, Vice President of Applied Genomics at Illumina. “Developing a more complete understanding of the relationship between genetic variation and disease requires sequencing a lot of individuals. The population selected to be part of this study was representative of the ethnic diversity of San Diego. It’s truly remarkable that these participants were not only interested in their own genomes, but also in how this research can help others from diverse populations.” 

Penelope Navarro, 60, agreed to participate in the study as soon as she learned about it. “The more information that you have, the more power you have, and the more informed decisions you can make. How can you go wrong if you have more information about yourself, that relates to your family? This is magic to me, it’s something that is going to make a huge difference, maybe not in my lifetime, but in my grandchildren’s lifetimes. And this is going to make a difference not just here in San Diego, but everywhere.”

A Full Day of Learning

Navarro and the other study participants convened on March 26 at Illumina’s Understand Your Genome® symposium for a full day of experiential learning.

“Nearly 1,000 people have been sequenced through the Understand Your Genome program since 2012,  but this event was really exciting, because most of our events have focused on people who are already part of the genomics community,” said Erica Ramos, Staff Genetic Counselor at Illumina. “The first event we held included Nobel Laureates in genomics. The San Diego Blood Bank group is the first where everyone or almost everyone in the audience is new or pretty new to genetics and genomics. We built a program to help them understand their own results and to show them what we’re doing here in San Diego as a community.”

That included a Genetics 101 primer by Marilyn Jones, M.D., Professor of Clinical Pediatrics at UCSD and Clinical Service Chief in Genetics at Rady Children’s Hospital, and an inspiring talk by Stephen Kingsmore, M.D. on his work to integrate rapid genome sequencing into neonatal clinical care at the new Rady Children’s Institute for Genomic Medicine.

Later in the afternoon, participants heard about the value of gathering genomic information to further research and ultimately improve patient care from Jennifer Friedman, M.D., Clinical Professor for Neurosciences and Pediatrics at UCSD and Rady Children’s Hospital. She was joined by two of her rare disease patients, whose stories of their recently-ended diagnostic odyssey brought genomics to life. Former San Diego Chargers player Rolf Benirschke, Chief Patient Officer at Legacy Health Strategies, shared how the Chargers Blood Drive started following his need for a blood transfusion and how, more recently, genomics has helped inform his medical care.  

Visualizing Their Own Genome

One of the most exciting parts of the day was when participants explored their own genomic data via Illumina’s MyGenome app on the iPad®. This educational tool enables users to explore variation in the human genome in a graphically accessible format. The participants were the first to use a new version of MyGenome with enhanced, user-friendly features for exploring genetic traits, health conditions, and drug responses, as well as community features to facilitate discussion between the user and their health care provider. Prior to the event, participants had already received their results via a consultation with a genetic counselor.

Study participants will also be able to join the new Understand Your Genome Community portal where they can access their genetic information in a simple to understand format.

“Hopefully some day this will all become something that is just part of an everyday appointment with your doctor,” Navarro added.

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