Rady Children’s Institute for Genomic Medicine is a mission-driven, non-profit seeking to save lives and improve outcomes for patients, clinicians and families. We welcome collaborations with academia, industry, healthcare providers and other stakeholders.
Our philosophy is simple–a healthy collaboration mutually benefits all parties involved, advances the needs of pediatric patients across the continuum of Rapid Precision Medicine™ and applies genomics to better outcomes.
Rare genetic diseases are typically chronic, progressive, and frequently life-threatening. However, we now can enable clinicians to identify rare genetic disease in newborns before symptoms begin.
NBS-by-WGS is a RCIGM-led pilot that uses whole genome sequencing (WGS) as a screening tool for newborns to identify genetic conditions before infants get sick. The NBS‐by‐WGS pilot is not about replacing the current biochemical NBS approach (for roughly 60 known conditions) – rather, it is a complement the newborn screening processes and infrastructure that is already in place. As the availability of new treatments expands, NBS-by-WGS allows us to dynamically scale the number of conditions screened.
There are over 30 million rare disease patients in the United States and over 5,000 rare disease clinical trials underway. Ending the diagnostic and therapeutic odyssey is finally within our grasp. Without disruptive progress, precision medicine at scale isn’t possible. NBS-by-WGS will help us identify rare disease patients earlier, increase clinical trial enrollment and rapidly progress rare disease treatment.
This pilot includes birthing hospitals throughout the U.S. and abroad. Blood-spot samples will be collected at the time of birth and sent to the lab where WGS will be performed. Genomic analysis and interpretation will be performed for ~400 early onset actionable genetic conditions. When a positive screening result is detected, a confirmatory diagnostic test will be completed before a result is returned to the ordering physician. Additionally, physicians will be provided with guidance on appropriate medical management, including all available treatments.
Interested in partnering with us or learning more about the project?
We collaborate with Children’s Hospitals and Health Systems to expand access to Clinical Genome Services, both within the US and around the globe.
In some cases, we provide genome wide sequencing for the institution’s send out lab. For most of our collaborators, we provide clinical sequencing services along with expert clinical consultation on evidence-based medical management options for the specific diagnosed condition.
Clinical trials are an integral part of new therapy development. We are happy to partner with companies for patient identification or for sequencing services. Our specialty is rare pediatric disease and our team is best-in-class in generating expedited, high-quality, clinical reports.
If you are interested in learning more about our clinical trial expertise, please Contact Us.
We’ve pioneered a medical revolution to end the diagnostic odyssey. Now we’re moving to end the therapeutic odyssey.
We’re striving for a future where we can not only diagnose a child’s rare disease but also provide an evidence-based treatment plan.
Our strengths and differentiators include:
Some of our tools and novel methodologies are available for licensing by external entities for their own use. We also hold licenses for several tools developed by external entities. If you are interested in talking with us about licensing opportunities, contact our Business Development team.
We put a premium on investigating and developing genomic medicine technologies and processes that can be applied to improving clinical care. From Artificial Intelligence and Natural Language Processing to Electronic Clinical Decision Support, our team seeks to advance new tools, platforms and instruments to stay on the cutting edge.
RCIGM is interested in collaborations around innovative new products, including mapping product requirements and outlining the key implications for clinical patient management. We are uniquely positioned to take products that are almost ready for clinical use and help optimize and beta-test them to drive them into production faster.
We are building the evidence base to demonstrate the clinical and economic value of genomic medicine for the management of rare genetic diseases in pediatric patients. RCIGM has become a sought-out collaborator in multi-site, academic research programs including several major NIH-funded studies. The Institute is also an active member of leading research alliances including the Sanford Children’s Genomic Medicine Consortium.
Developing the current and future precision medicine workforce is among our priorities. We work with other research and healthcare organizations to expand the genomic medicine knowledge base and build expertise in using rWGS® in clinical practice.
We are teaming up with rare disease advocacy groups to educate and empower patient families to become more effective advocates for their loved one’s healthcare and help shape the future of precision medicine.
We engage pediatric patient families, who have experience whole genome sequencing first-hand, in educational programs to build and empower the pediatric rare disease community on how to improve the genomic diagnostic and therapeutic experience for their children at the local, regional and national levels.
RCIGM is embedded within Rady Children’s Hospital-San Diego (RCHSD). As one of the premier pediatric hospitals in the nation with a Level IV NICU, RCHSD provides comprehensive pediatric medical services for San Diego, southern Riverside and Imperial Counties.
U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in all 10 pediatric specialties the magazine surveyed. Rady Children’s is a nonprofit organization. For more information, visit www.rchsd.org and find RCHSD on Facebook, Twitter and Vimeo. To learn more about RCHSD world renowned programs and services click here