Alliances to Amplify Impact

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.

BeginNGS: Newborn Screening by WGS

BeginNGS: Newborn Genomic Sequencing to end the diagnostic odysseyRCIGM is leading a pilot (BeginNGS) that, with the help of our consortium founding partners, will sequence 1 million newborns around the world by 2026 to screen for ~400 actionable genetic conditions at birth for which treatments or treatment candidates in clinical trials currently exist.

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.

What is BeginNGS?

BeginNGS is a RCIGM-led pilot that uses whole genome sequencing as a screening tool for newborns to identify genetic conditions before infants get sick. The BeginNGS pilot is not about replacing the current biochemical NBS approach (for roughly 60 known conditions) – rather, it is a complement to the newborn screening processes and infrastructure that is already in place. As the availability of new treatments expands, BeginNGS allows us to dynamically scale the number of conditions screened.

Why Now?

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. BeginNGS will help us identify rare disease patients earlier, increase clinical trial enrollment and rapidly progress rare disease treatment.

Illustration of how NGS-by-WGS will disrupt the paradigm


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.

Join Us

Interested in partnering with us or learning more about the project?

Hospitals and Health Systems

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.

Map showing distribution of rWGS partner hospitals across the United States.

Clinical Sequencing and Clinical Interpretation Services

If your institution is interested in working with us on a special project where rapid turnaround time is essential, we offer the fastest preliminary results of clinical genome wide sequencing available nationwide. For cases when fast results are not required, we also offer longer turnaround time ≤ 30 days. Visit our Clinical Services page to learn more.
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Clinical Trials

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.

Have a Question?

Novel Therapy Development

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:

  • >30% diagnostic rate
  • Unique and growing genome & phenome database of 2,000+ patient cases focused on rare pediatric genetic diseases
  • Cases covering a wide range of phenotypes spanning many organ systems
  • Many ultra-rare genetic findings and hundreds of previously unidentified genetic variations
  • Demographically diverse patient population from a nationwide catchment area
  • rWGS® of randomized pediatric patient cohorts in intensive care settings has revealed expanded phenotypes for previously well-characterized genetic conditions and highlighted the efficacy of rWGS for diagnosis of rare disease
  • Rady Children’s Hospital Health System has >90% market share around a Southern California region that includes San Diego, Imperial and Riverside counties
  • Rady Children’s Hospital Health System integrated EMR system—with more than 2.2M records—that allows us to follow inpatients into outpatient clinic settings

More Information:

Licensing Opportunities

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.

Technology Innovation

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.

Research Collaborations

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.

Want to Explore a Research Partnership?

Learning Opportunities

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. 

Patient Advocacy

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.

Rapid Precision Medicine Partnership Program

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.

Rady Children’s Hospital-San Diego

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 and find RCHSD on Facebook, Twitter and Vimeo. To learn more about RCHSD world renowned programs and services click here

RCIGM Collaborations In the News

Transform Pediatric Healthcare

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