UCLA Health, Regeneron Genetics Center collaborate on whole exome sequencing for patients
Credit: Regeneron Genetics Center
UCLA Health-Regeneron Genetics Center research collaboration: Closing in on personalized medical care for patients throughout California
LOS ANGELES (Nov. 16, 2020) – UCLA Health has entered into a collaborative research agreement with the Regeneron Genetics Center (RGC) to provide whole exome sequencing for 150,000 UCLA Health patients. Led by the UCLA Institute for Precision Health (IPH), this initiative is set to become one of the largest and most comprehensive in the nation and is a key step in bringing genomic medicine to patients across California.
“We’ve talked for some time about the promise of precision medicine – a time when preventive measures and targeted treatments can be individualized to each patient’s genetic makeup. This is a watershed moment in that timeline, a big step toward that reality and a turning point in our research dedicated to changing the way future health care will be delivered for our patients and our community,” said Dr. Daniel Geschwind, Gordon and Virginia MacDonald distinguished professor, senior associate dean and associate vice chancellor of Precision Health.
The new exome-sequencing collaboration builds on genotyping work underway with the UCLA ATLAS Community Health Initiative – a large collection of diverse patient blood, saliva and tissue samples being analyzed to help UCLA researchers and clinicians develop and deliver the best care possible. Genotyping, which is targeted to a specific place in the DNA, looks for a predefined set of variants, but whole exome sequencing – like that being performed through the new RGC collaboration – analyzes thousands of protein-coding genes and can provide information on many more potential mutations. Using a needle and haystack analogy, genotyping looks for predetermined needles in a specific location, while exome sequencing searches more of the haystack to detect unexpected needles.
“All patients who participate in this research will be given the opportunity to opt in or out of having actionable results – those that could directly impact their clinical care – returned to them. All patient information and specimens used in the research are ‘de-identified’ to protect patient privacy and confidentiality. Actionable results, which are verified by a UCLA CLIA-certified laboratory, are only returned to those patients who specifically say they want them,” Dr. Geschwind said, adding that about 2% to 3% of tested patients are expected to have a result that will have immediate clinical implications.
The RGC, a wholly owned subsidiary of the science-focused biotechnology company Regeneron, has built one of the world’s largest genetics databases, pairing the sequenced exomes and de-identified electronic health records of more than 1 million people, through collaborations with nearly 100 global health care and academic institutions. Building upon Regeneron’s strengths in genetics-driven drug discovery, the information secured from this initiative will allow for the elucidation, on a large scale, of genetic factors that cause or influence a range of human diseases.
Three factors make this research effort particularly strong: the depth of UCLA Health’s patient care and research expertise; the ethnic diversity of Los Angeles and the Southern California region; and RGC’s leading genetics research, sequencing and analysis capabilities.
“Including diverse populations is critical to understanding genetic variability across different populations and developing new treatments that precisely target diseases. Our region’s population is a microcosm of the world, which makes UCLA Health an ideal setting for this project with Regeneron,” said Dr. John Mazziotta, vice chancellor of UCLA Health Sciences and CEO of UCLA Health. He added that patient confidentiality is a hallmark of this and all UCLA Health clinical research and care.
UCLA Health and RGC officials said the collaboration is expected to have early and ongoing benefits.
“The Regeneron Genetics Center was established to translate the power and promise of genetics research into actionable insights that lead to improved patient care and important new medicines,” said Dr. Aris Baras, senior vice president and head of the Regeneron Genetics Center. “The UCLA Health collaboration helps to further deepen and diversify our dataset of exomes from over 1 million deidentified volunteers. Genetic data that better represents the entirety of the human population will lead to better-informed treatment options for all people, which is why we continue to expand this unique drug discovery and development tool, while our collaborators utilize verified information in patients’ daily care.”
Dr. Kelsey C. Martin, dean of the David Geffen School of Medicine at UCLA, has long been an ardent proponent of UCLA Health’s efforts to usher in the new era of precision medicine. “This is an exciting time for clinicians and researchers at UCLA Health and the school of medicine, but more importantly, it’s a dramatic advancement for the immediate future of patient care – locally, nationally and internationally,” she said – a sentiment shared by other UCLA Health leaders in genetics-based medicine.
“Our collaboration with the Regeneron Genetics Center gets us closer to providing precise, personalized treatments for all cancer patients,” said Dr. Beth Karlan, professor and vice chair of women’s health research in the Department of Obstetrics and Gynecology, and director of cancer population genetics at UCLA Jonsson Comprehensive Cancer Center. “Ordering whole exome genetic testing may eventually become as commonplace as ordering routine lab work, and it will give us a chance to offer earlier intervention and better outcomes for our patients.”
According to Dr. Geschwind, the results of sequencing may become instrumental in helping to predict risk and guide follow-up testing and care. For those with rare diseases, such findings can be diagnostic, which is the approach taken in the California Center for Rare Diseases at UCLA.
“UCLA Health is recognized throughout the state and nation for its leadership in innovation and high-quality patient care. This collaborative effort with the Regeneron Genetics Center underscores those strengths as we move into this new, exciting chapter of personalized, targeted medical care,” said Johnese Spisso, president of UCLA Health, CEO of UCLA Hospital System and associate vice chancellor of Health Sciences.