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.”
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