June 27, 2019 — What a fascinating and informative visit today with the team at Rady Children’s Institute for Genomic Medicine. These dynamic individuals are responsible for groundbreaking work that is on the leading edge of pediatric genomic medicine.

With “baby Janet”

Two familiar faces welcomed me upon my arrival: those of Institute President and CEO Dr. Stephen Kingsmore and former Rady Children’s President and CEO (current President Emeritus) Dr. Donald Kearns. With my passport stamped, I was ready to begin my simulated journey through the workflow of an actual patient, from enrollment to diagnosis and treatment. I was introduced to my “baby Janet,” who had several congenital abnormalities, including a heart defect and liver function issues.

My first stop, on “day one,” was with the enrollment team. Given the serious nature of Janet’s condition, she was a candidate for rapid Whole Genome Sequencing (rWGS) to aid in her diagnosis. This team of research nurses and research project managers educated me on the process and took a blood sample from Janet.

On “day two,” the blood sample headed to the lab where, using strict quality control measures, a team of clinical lab scientists and biorepository staff research associates extracted DNA from the sample, loaded it into a flow cell and then onto the ultra-rapid sequencer.

Learning how DNA is extracted from the blood sample

This team also conducted confirmatory testing, and uploaded the data from the sequencer on “day three.” It was then in the hands of applications specialists, software developers, and bioinformatics and quality assurance specialists, who take the huge amount of information and organize it into the code that makes up the whole genome — about 150,000 pages of information. Last year alone, this team analyzed about 200 terabytes of data!

On “day four,” clinical lab directors and clinical analysts drilled down in the data to identify a potential diagnosis. The analysis was then completed, and the team sent a preliminary diagnostic report to the NICU team.

On “day seven,” the Institute team issued the final diagnostic report to the NICU team. Medical directors, research scientists, fellows and genetic counselors got involved along the journey, working closely with the family (which I represented in this scenario) to go over the report, answer questions and provide resources.

Learning how clinical analysts drill down into the data to identify a potential diagnosis

It’s amazing to think that all of these intricate steps can be completed in just a week using rWGS, and even faster if clinically indicated. In fact, in 2018, Dr. Kingsmore and team set the Guinness World Records™ title for the fastest genetic diagnosis, wrapping up this process in just 19.5 hours.

To help spread the word about this incredible technology and make it available to other organizations, the Institute has a team that focuses on strategic initiatives, business development, marketing and education/engagement. The Institute currently partners with more than 20 sites across the country to offer rWGS and is planning to double that number in the next fiscal year.

This is an ambitious team that is doing incredible work, saving lives and transforming the way we deliver healthcare. Thanks for all that you do and will do to make brighter futures for kids.