Press Releases

Global Genes and Rady Children’s Institute for Genomic Medicine Partner to Develop Next-Generation Support Network for Families with Diagnosed Gene-Based Rare Diseases

ALISO VIEJO, Calif.; Oct. 14, 2020 – As gene-based diagnostics are shortening the path to an accurate diagnosis, the risk of disparities in service and support have increased. To reduce those disparities, Global Genes, a leading rare disease patient advocacy organization, is pleased to announce a new partnership with Rady Children’s Institute for Genomic Medicine (RCIGM) to develop a next-generation support network for families with gene-based diagnosed rare diseases. Read More

Genomenon and Rady Children’s Institute for Genomic Medicine Collaborate to Accelerate Diagnosis of Rare Genetic Disorders in Newborns

Mastermind Genomic Search Engine Now Part of RCIGM’s Analysis and Variant Interpretation Workflow

Ann Arbor, Michigan – October 6, 2020 The Rady Children’s Institute for Genomic Medicine (RCIGM) and Genomenon, Inc. today announced a strategic collaboration to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. The collaboration combines the Institute’s genomic research expertise with Genomenon’s Mastermind Genomic Search Engine to advance precision medicine for infants in an intensive care setting. Read More

AdventHealth for Children, Rady Children’s Institute launch genomics partnership to help critically ill kids

ORLANDO, Fla., and SAN DIEGO, Oct. 5, 2020 AdventHealth for Children is partnering with Rady Children’s Institute for Genomic Medicine to bring rapid and ultra-rapid whole genome sequencing to Central Florida families for the first time. The testing will help critically ill babies and children in intensive care with unexplained medical conditions receive appropriate care. Read More

Rady Children’s Shows Genomic Sequencing for Infants in Intensive Care Yields Life-Changing Benefits and Medical Cost Savings

State funded Medi-Cal pilot completed at 5 Children’s Hospitals Statewide

In a pilot program funded by the State of California, Rady Children’s Hospital-San Diego demonstrated that a rapid precision medicine program for critically ill babies enrolled in Medi-Cal produced better health outcomes and reduced suffering for the infants while decreasing the cost of their care. Read More

Blue Shield of California Becomes First Health Plan in U.S. to Cover Cost of Rapid Whole Genome Sequencing for Critically Ill Children

Innovative genetics solution pioneered by Rady Children’s Institute for Genomic Medicine; Eligible children are covered by parents’ health plan

OAKLAND and SAN DIEGO, Calif. (March 9, 2020) – Blue Shield of California has become the first health plan in the United States to cover rapid and ultra-rapid Whole Genome Sequencing to help critically ill babies and children in intensive care with unexplained medical conditions receive precision care.

Rady Children’s Institute for Genomic Medicine researchers have pioneered the fastest use of this advanced diagnostic technology to rapidly identify and decode the root causes of rare genetic disorders for some of the sickest infants and children hospitalized in intensive care across the country.

The Rady Children’s Institute team offers the quickest turnaround of genomic test results available nationwide, delivering a preliminary diagnosis in less than three days for medically urgent cases. The blood samples can be taken at any hospital and sent to Rady Children’s Institute for sequencing and analysis.

“Our system is optimized to identify or rule out most genetic diseases in a single test, and provide the medical team at the bedside with child-specific, disease-specific information so they can make better, faster medical decisions,” said Stephen Kingsmore, M.D., DSc, president and CEO of the Institute.

Whole genome sequencing scans a child’s entire genetic makeup for thousands of anomalies from a blood sample. Rady Children’s specialists also provide consultation to the medical team caring for the patient to offer targeted guidance that can enable timely and precise personalized care.

“We know that uncertainty and long testing wait times can create tremendous risks for children in intensive care, and anxiety for their families, all the while creating more challenges for physicians and specialists,” said Terry Gilliland, M.D., executive vice president of Healthcare Quality and Affordability at Blue Shield of California. “By providing our members with access to Rady Children’s Institute for Genomic Medicine’s pioneering work in rapid whole genome sequencing, we’re supporting them in what is often the most difficult time in their lives.”

Blue Shield members with Individual and Family Plans or employer-sponsored health plans who have a critically ill child, up to age 18, hospitalized in neonatal or pediatric intensive care at any location with an undiagnosed condition may be eligible.

This is the latest example of Blue Shield’s leadership in making the newest evidence-based medical technologies and services available to its members.

The nonprofit health plan also was the first insurer to cover confirmatory testing for members who received a positive Ashkenazi Jewish BRCA finding from consumer genetic-testing companies such as 23andMe, as well as prostate gene expression assays for patients with low risk prostate cancer, helping them to avoid unnecessary radiation treatment and surgical intervention.

Without medical insurance coverage, access to rapid Whole Genome Sequencing is often not readily available for many hospitalized children who could potentially benefit from this service. Families in need of this care have often had to rely upon funding provided by private philanthropy and research grants to gain access to rapid Whole Genome Sequencing and associated precision care.

“Genetic disease is a leading cause of infant death in the U.S. and Blue Shield is paving the way in providing coverage for this rapid, molecular diagnosis that can result in life-saving treatments,” Dr. Kingsmore said.

Located on the campus of Rady Children’s Hospital-San Diego, the Institute houses a state-of-the-art genome sequencing lab and employs a multi-disciplinary team of experts who specialize in providing timely and accurate guidance to physicians caring for children with rare genetic disease.

About Blue Shield of California
Blue Shield of California strives to create a healthcare system worthy of our family and friends that is sustainably affordable. Blue Shield of California is a tax paying, nonprofit, independent member of the Blue Cross Blue Shield Association with over 4 million members, 6,800 employees and more than $20 billion in annual revenue. Founded in 1939 in San Francisco and now headquartered in Oakland, Blue Shield of California and its affiliates provide health, dental, vision, Medicaid and Medicare healthcare service plans in California. The company has contributed more than $500 million to Blue Shield of California Foundation since 2002 to have an impact on California communities.
For more news about Blue Shield of California, please visit news.blueshieldca.com.
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About Rady Children’s Institute for Genomic Medicine
The Institute is leading the way in advancing precision healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego and partner hospitals. The vision is to expand delivery of this life-
saving technology to enable the practice of precision pediatric medicine at children’s hospitals across California, the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. Learn more at www.RadyGenomics.org. Follow us on Twitter and LinkedIn.

Contact:
Grace Sevilla, APR
Rady Children’s Institute for Genomic Medicine
858-966-1710
 gSevilla@rchsd.org

Matthew Yi
Blue Shield of California
510-607-2359
media@blueshieldca.com

Ten Children’s Hospitals Unite to Change Pediatric Care Through Genomic Medicine

Rady Children’s among founding members of innovative consortium

SIOUX FALLS, S.D. — Nov. 5, 2019— Three more hospitals have signed on to rapidly integrate genetics and genomics into primary and specialty pediatric care through an innovative consortium with Sanford Health.

Rady Children’s Hospital and Rady Children’s Institute for Genomic Medicine are founding members of the Sanford Children’s Genomic Medicine Consortium.

The new hospitals are Lucile Packard Children’s Hospital Stanford, Palo Alto, California; Seattle Children’s Hospital; and American Family Children’s Hospital, UW Health, in Madison, Wisconsin. That brings the total number in the consortium to 10.

The mission of the consortium is to efficiently manage resources in genetics and genomics, perform cutting-edge research and education and bring genomic medicine into pediatric practice. This will help set the standard for precision medicine in children’s health care.

In addition to Rady Children’s, the other member hospitals include Sanford Children’s (Sioux Falls and Fargo), Children’s Minnesota (Minneapolis and St. Paul), Children’s Hospital Colorado (Aurora), Children’s Hospital Los Angeles, Banner Children’s at Diamond Children’s Medical Center (Tucson) and Nicklaus Children’s Hospital (Miami).

Previous innovation projects funded by the consortium include a study of the outcomes of rapid whole genomic sequencing in critically ill newborn infants and a study evaluating the routine use of an extensive, pediatric-focused, next generation sequencing panel in the diagnosis of childhood cancers.

Genetic diseases are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU, PICU). These children often undergo an extensive and expensive diagnostic process that may not lead to a final diagnosis.

Stephen Kingsmore, M.D., D.Sc., president and CEO of Rady Children’s Institute of Genomic Medicine (RCIGM), is leading rapid whole genomic sequencing in critically ill newborn infants to determine the complete DNA sequence of a child’s genome at one time to identify the risk of genetic diseases.

Currently, the average turnaround time for sequencing to diagnosis by the RCIGM team is under a week. That is significantly faster than the common timetable for this type of work, which can take weeks to complete. “The future of pediatric medicine is being transformed by the ability to rapidly decode the genomes of the most fragile newborns to deliver exact diagnoses and targeted treatment,” Dr. Kingsmore said.

Pediatric cancers have different genetic origins compared with adult cancers. Current panels for detecting the genetic origins of a tumor primarily focus on adult cancers. OncoKids® developed at Children’s Hospital Los Angeles, is specifically formulated to detect the genomic alterations of pediatric cancers including leukemias, lymphomas, bone, soft tissue and brain tumors. “The ability to identify the precise underlying genomic alterations in individual tumors with OncoKids® allows us to personalize care and innovate how we treat children with cancer,” said Alexander R. Judkins, M.D., Pathologist-in-Chief and Executive Director of the Center for Personalized Medicine (CPM) at Children’s Hospital Los Angeles.

Extending precision medicine to children’s health through this consortium is inspired by the vision of Denny Sanford.

“We are thrilled to welcome these three additional premier children’s hospitals to the Sanford Children’s Genomic Medicine Consortium. I am thankful to each member for their strong support of the spirit of working together to more precisely care for each child using the cutting edge tools of genetics and genomics,” said Gene Hoyme, M.D., Medical Director, Sanford Children’s Genomic Medicine Consortium. “So much can be gained for the care of all children through the collaboration of these hospitals.”

About Sanford Health
Sanford Health, one of the largest health systems in the United States, is dedicated to the integrated delivery of health care, genomic medicine, senior care and services, global clinics, research and affordable insurance. Headquartered in Sioux Falls, South Dakota, the organization includes 44 hospitals, 1,400 physicians and more than 200 Good Samaritan Society senior care locations in 26 states and nine countries. Nearly $1 billion in gifts from philanthropist Denny Sanford have transformed how Sanford Health improves the human condition. For information, visit sanfordhealth.org or Sanford Health News.

Contact:
Jacqueline Palfy, Sioux Falls
Sanford Health Media Relations
605-366-2432 / jacqueline.palfy@sanfordhealth.org

Rady Children’s Institute for Genomic Medicine Receives $3 Million Grant to Investigate the Role Genes Play in Heart Muscle Disease

Four-year National Institutes of Health Grant to Focus on Cardiomyopathy Research

 SAN DIEGO – Sept. 27, 2019 – The National Institutes of Health has awarded Rady Children’s Institute for Genomic Medicine (RCIGM) a four year, $3,049,054 grant to investigate how genetic interactions may influence cardiomyopathy (CM), a devastating heart disease that affects millions in the United States, with about 200,000 new cases diagnosed annually.

“Our research seeks to better understand how multiple genes work together to increase the severity and risk of getting cardiomyopathy, which will impact more than one in every 500 people during their lifetimes,” said Matthew Bainbridge, principal investigator and associate director of clinical genomics at RCIGM. “Gaining a better understanding of the genetic mechanisms that influence cardiomyopathy will help medical professionals give better treatments and advice to patients.”

Currently, genetic diagnoses of CM often fail to predict severity or incidence of heart failure, significantly increasing the likelihood of death in CM patients. This is driven, in part, by poor understanding of genetic interactions in CM.  RCIGM researchers will test the hypothesis that multiple genetic mutations can lead to a more severe presentation of CM and investigate whether variants that are seemingly benign may actually cause more severe disease in combination with known mutations, with the ultimate goal of improving the ability to predict how the disease will manifest in CM patients based on their unique genetic information.

The research will also provide critically needed data to help generate computational models to predict inheritance of traits that are influenced by more than one gene (polygenic) and build infrastructure to conduct large scale tests for polygenic inheritance in CM.

Research will involve using data from existing cohorts of CM patients, both from Rady Children’s Hospital-San Diego and public databases.  Additionally, RCIGM will whole genome sequence 40 Rady Children’s CM patients in order to identify the best candidates to be tested against combinations of seemingly benign gene variants and those known to cause disease.  Finally, the three best candidates will be assessed in a mouse model.

“Unlike other conditions with clear causes, cardiomyopathy is complicated, with over-lapping genetic causes that can result in a widely different course of disease,” said Bainbridge. “While some CM patients can effectively manage their condition with medications, others may develop heart failure necessitating heart transplant.  With a better understanding of how genes work together, we can more effectively determine a patient’s prognosis.”

The NIH grant will distributed over a four year period with an average annual payment of approximately $762,000.

“The leading edge research underway at Rady Children’s Institute for Genomic Medicine is focused on revealing the causes for genetic disease, and offering insight into disease-specific interventions to help guide care,” said Stephen Kingsmore, MD, DSc, President and CEO of RCIGM. “This innovative approach to understanding the role genes play in cardiomyopathy could lead to better treatments and better quality of life for patients. And that’s what RCIGM is all about.”

Research reported in this news release was supported by the National Heart, Lung And Blood Institute of the National Institutes of Health under Award Number R01HL145175. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

New Research Award Supports Early Career Investigator of Childhood Digestive Diseases

Funded 3-year appointment at Rady Children’s Institute for Genomic Medicine

June 17, 2019—San Diego – A new research scholar position at Rady Children’s Institute of Genomics Medicine (RCIGM) has been awarded to a talented young investigator who is pursuing a career using genomics to enhance understanding of pediatric digestive diseases.

Amy Hemperly, DO, is the first recipient of the Research Scholar Award in Pediatric Genomics offered jointly by RCIGM and the American Gastroenterological Association (AGA). A graduate of UC San Diego, Hemperly will serve as principal investigator for the three-year project starting in July.

“My career goal is to become an independent physician scientist,” she said. “This award will give me protected time and resources to study the influence of genetic variations on response to drug treatment in patients with pediatric IBD.”

Over the course of her project, she will also work closely with the Institute’s senior investigators and be mentored in clinical and translational pediatric genomics.

“We are delighted that Dr. Hemperly will be joining RCIGM to pursue her career as a physician-scientist. She is a very talented and intelligent individual who will be a true asset to our team as we strive to improve the health of generations to come,” said Charlotte Hobbs, MD, Vice President of Research and Clinical Management.

AGA scholar awards have launched the careers of young investigators doing important work that translates to new patient care tools for clinicians and better outcomes for patients.

“The 2019 class of AGA Research Foundation awardees represents some of the most innovative and promising early-stage investigators working in the field of gastroenterology,” said Robert S. Sandler, MD, MPH, AGAF, chair, AGA Research Foundation. “We’re proud to support these individuals as they continue on their ultimate mission to improve the treatment and care of digestive disease patients through their discoveries.”

The awards program is made possible thanks to generous donors and funders contributing to the AGA Research Foundation. Learn more about the AGA Research Foundation at www.gastro.org/foundation.

About Rady Children’s Institute for Genomic Medicine

The Institute is leading the way in advancing precision healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego and partner hospitals. The vision is to expand delivery of this life-saving technology to enable the practice of precision pediatric medicine at children’s hospitals across California, the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. Learn more at www.RadyGenomics.org. Follow us on Twitter and LinkedIn.

About the AGA Institute

The American Gastroenterological Association is the trusted voice of the GI community. Founded in 1897, the AGA has grown to more than 16,000 members from around the globe who are involved in all aspects of the science, practice and advancement of gastroenterology. The AGA Institute administers the practice, research and educational programs of the organization. www.gastro.org.

About the AGA Research Foundation

The AGA Research Foundation, formerly known as the Foundation for Digestive Health and Nutrition, is the cornerstone of AGA’s effort to expand digestive disease research funding. Since 1984, the AGA, through its foundations, has provided more than $51 million in research grants to more than 950 scientists. The AGA Research Foundation serves as a bridge to the future of research in gastroenterology and hepatology by providing critical funding to advance the careers of young researchers between the end of training and the establishment of credentials that earn National Institutes of Health grants. Learn more about the AGA Research Foundation or make a contribution at www.gastro.org/foundation.

Rady Children’s Institute for Genomic Medicine Uses Artificial Intelligence to Diagnose Genetic Diseases

April 24, 2019–Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) have utilized automated machine-learning and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method is speeding answers to physicians caring for infants in intensive care and opening the door to increased use of genome sequencing as a first-line diagnostic test for babies with cryptic conditions.

“Some people call this artificial intelligence, we call it augmented intelligence,” said Stephen Kingsmore, MD, DSc, President and CEO of RCIGM. “Patient care will always begin and end with the doctor. By harnessing the power of technology, we can quickly and accurately determine the root cause of genetic diseases. We rapidly provide this critical information to intensive care physicians so they can focus on personalizing care for babies who are struggling to survive.”

A new study documenting the process was published today in the journal Science Translational Medicine. The workflow and research were led by the RCIGM team in collaboration with leading technology and data-science developers —Alexion, Clinithink, Diploid, Fabric Genomics and Illumina.

Dr. Kingsmore’s team has pioneered a rapid Whole Genome Sequencing process to deliver genetic test results to neonatal and pediatric intensive care (NICU/PICU) physicians to guide medical intervention. RCIGM is the research arm of Rady Children’s Hospital-San Diego.

By reducing the need for labor-intensive manual analysis of genomic data, the supervised automated pipeline provided significant time-savings. In February 2018, the same team achieved the Guinness World Record™ for fastest diagnosis through whole genome sequencing. Of the automated runs, the fastest times – averaging 19 hours – were achieved using augmented intelligence.

“This is truly pioneering work by the RCIGM team—saving the lives of very sick newborn babies by using AI to rapidly and accurately analyze their whole genome sequence “ says Eric Topol, MD, Professor of Molecular Medicine at Scripps Research and author of the new book Deep Medicine.

RCIGM has optimized and integrated several time-saving technologies into a rapid Whole Genome Sequencing (rWGS) process to screen a child’s entire genetic makeup for thousands of genetic anomalies from a blood sample.

Key components in the rWGS pipeline come from Illumina, the global leader in DNA sequencing, including Nextera DNA Flex library preparation, whole genome sequencing via the NovaSeq 6000 and the S1 flow cell format. Speed and accuracy are enhanced by Illumina’s DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform.

Other pipeline elements include Clinithink’s clinical natural language processing platform CliX ENRICH that quickly combs through a patient’s electronic medical record to automatically extract comprehensive patient phenotype information.

Another core element of the machine learning system is MOON by Diploid. The platform automates genome interpretation using AI to automatically filter and rank likely pathogenic variants. Deep phenotype integration, based on natural language processing of the medical literature, is one of the key features driving this automated interpretation. MOON takes five minutes to suggest the causal mutation out of the 4.5 million variants in a whole genome.

In addition, Alexion’s rare disease and data science expertise enabled the translation of clinical information into a computable format for guided variant interpretation.

As part of this study, the genetic sequencing data was fed into automated computational platforms under the supervision of researchers. For comparison and verification, clinical medical geneticists on the team used Fabric Genomics’ AI-based clinical decision support software, OPAL (now called Fabric Enterprise)—to confirm the output of the automated pipeline. Fabric software is part of RCIGM’s standard analysis and interpretation workflow.
The study titled “Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation,” found that automated, retrospective diagnoses concurred with expert manual interpretation (97 percent recall, 99 percent precision in 95 children with 97 genetic diseases).

Researchers concluded that genome sequencing with automated phenotyping and interpretation—in a median 20:10 hours—may spur use in intensive care units, thereby enabling timely and precise medical care.
“Using machine-learning platforms doesn’t replace human experts. Instead it augments their capabilities,” said Michelle Clark, PhD, statistical scientist at RCIGM and the first author of the study. “By informing timely targeted treatments, rapid genome sequencing can improve the outcomes of seriously ill children with genetic diseases.”

An estimated four percent of newborns in North America are affected by genetic diseases, which are the leading cause of death in infants. Rare genetic diseases also account for approximately 15 percent of admissions to children’s hospitals.

The RCIGM workflow is engineered to speed and scale up genomic data interpretation to reduce the time and cost of whole genome sequencing. The team’s goal is to make rWGS accessible and available to any child who needs it.

Increased automation of the process removes a barrier to scaling up clinical use of WGS by reducing the need for time-consuming manual analysis and interpretation of the data by scarce certified clinical medical geneticists. There were fewer than 1,600 of these experts nationwide in 2017, according to the American Board of Medical Genetics and Genomics.

Rady Children’s Institute began performing genomic sequencing in July 2016. As of the end of March 2019, the team had completed testing and interpretation of the genomes of more than 750 children. One-third of those children have received a genetic diagnosis with 25 percent of those benefitting from an immediate change in clinical care based on their diagnosis.