UCLA Health and Regeneron Genetics are collaborating on complete exome sequencing for patients

UCLA Health-Regeneron Genetics Center research collaboration: lockdown on personalized medical care for patients across California

LOS ANGELES (November 16, 2020) – UCLA Health has entered into a collaborative research agreement with the Regeneron Genetics Center (RGC) to provide complete exome sequencing to 150,000 patients from UCLA Health. Led by the UCLA Institute of Microscopic Health (IPH), this initiative is set to become one of the largest and most comprehensive in the country and is a major step in introducing genomic medicine to patients across California.

We’ve talked for some time about the promise of precision medicine – a time when preventive measures and treatments targeted to each patient’s genetic makeup can be customized. This is a watershed moment in that timeline, a major step towards this reality and a turning point in our research dedicated to changing the way healthcare will be provided in the future to our patients and our community, ”said Dr. Daniel Gishwind, Gordon and Virginia MacDonald, Distinguished Professor, Senior Associate Dean and Co-Vice President, Precision. Health.

The new exome sequencing collaboration builds on ongoing genotyping work with the University of California Los Angeles Community Health Initiative – Atlas – a large collection of diverse patient blood, saliva, and tissue samples being analyzed to help UCLA researchers and clinicians develop and provide the best possible care. . Genotyping, targeting a specific location in DNA, looks for a predetermined set of variants, but complete exome sequencing – such as the one being made through the new RGC collaboration – analyzes thousands of protein-coding genes and can provide information on more potential mutations. Using needle and haystack analogies, the genotyping looks for pre-defined needles at a specific site, while exome sequencing searches more of the haystack to discover unexpected needles.

“All patients who participate in this research will be given the opportunity to choose or cancel access to actionable results – those that could directly affect clinical care – will be returned to them. All patient information and samples used in the research will be” unspecified “to protect patient privacy and confidentiality. Workable results, which have been verified by a UCLA CLIA accredited laboratory, are only returned to those patients who have specifically said they want them, ”Dr. Jishwind said, adding that about 2% to 3% of patients tested would be expected. They obtain a result that will have immediate clinical effects.

RGC, a wholly owned subsidiary of science-focused biotechnology company Regeneron, has built one of the world’s largest genetic databases, pairing the sequenced exomes and unspecified electronic health records of more than a million people, by collaborating with nearly 100 global healthcare and academic institutions. Building on Regeneron’s strengths in genetically driven drug discovery, the information obtained from this initiative will allow clarification, at scale, of the genetic factors that cause or affect a range of human diseases.

Three factors make this research effort particularly strong: the depth of patient care and research expertise at UCLA Health; Ethnic diversity in Los Angeles and the Southern California region; And the leading research, sequencing and analysis capabilities of RGC.

“Including diverse populations is critical to understanding genetic variation across different populations and developing new therapies that precisely target diseases.” Dr. John Mazziotta, UCLA Health Vice President and CEO of UCLA Health, said: “Our population is a microcosm of the world, making UCLA Health makes an ideal setting for this project with Regeneron. ”He added that patient confidentiality is the hallmark of this and all of UCLA’s clinical healthcare research.

UCLA Health and RGC officials said the collaboration is expected to have early and continuing benefits.

“The Regeneron Genetics Center was created to translate the power and promise of genetic research into practical insights that lead to improved patient care and important new drugs,” said Dr. Aris Paras, Senior Vice President and Head of the Regeneron Genetics Center. “The Health Collaboration at UCLA is helping to deepen and diversify our exome dataset from over one million anonymous volunteers. Genetic data that better represent all humans will lead to informed treatment options for all people, which is why we continue to expand this tool. Unique to discover and develop medicines, while our collaborators use verified information in the daily care of patients. ”

Dr. Kelsey C. Martin, dean of the David Geffen School of Medicine at UCLA has long been a passionate supporter of UCLA Health’s efforts to usher in a new era of precision medicine. “This is an exciting time for clinicians and researchers at UCLA Health and Medical School, but most importantly, it is a dramatic advance into the near future of patient care – locally, nationally and globally,” she said – a sentiment shared by other health pioneers at UCLA

“Our collaboration with Regeneron Genetics brings us closer to providing accurate and personalized treatments for all cancer patients,” said Dr. Beth Carlan, Professor and Vice President of Women’s Health Research in the Department of Obstetrics and Gynecology and Director of the Cancer Patients Group. Genetics at the UCLA Jonsson Comprehensive Cancer Center. “Ordering for complete exome genetic testing may eventually become as common as a routine laboratory work request, and this will give us an opportunity to offer early intervention and better results to our patients.”

According to Dr. Geschwind, sequencing results may be useful in helping to predict risk and guide follow-up testing and care. For those with rare diseases, these results could be diagnostic, which is the approach taken at UCLA’s California Center for Rare Diseases.

“UCLA Health is recognized across the state and nation for its leadership in innovation and high-quality patient care. Johnese Spisso, President of UCLA Health, CEO of the UCLA Hospital System and Associate Vice-Counselor for Health Sciences, emphasized that this collaborative effort with the Regeneron Genetics Center underscores these strengths. As we move into this exciting new chapter of targeted and personalized medical care.


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Sandy Fan


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