Initiative Offers Free Whole Genome Sequencing to All UCSF Health Patients
UC San Francisco scientists have launched a precision medicine initiative to offer free voluntary whole genome sequencing to all UCSF Health patients, which they say makes it the most comprehensive program of its kind in the nation.
The initiative, called the UCSF 3D Health Study (for “Data, Discovery, and Diversity”) is seeking to build a genomic database that matches the diversity of UCSF Health’s patient population in order to broaden scientists’ understanding of the genomic variations underlying health and disease and help ensure that precision medicine at UCSF serves all people.
In a story on the UCSF website, UCSF Chief Genomics Officer Aleks Rajkovic, M.D., Ph.D., medical director of the UCSF Health Center for Clinical Genetics and Genomics, expanded on that goal: “We need to be able to identify and respond to diseases much earlier than we are now using preventive therapies based on deep understanding of disease biology,” he said. “Central to that is having genetic data on a diverse spectrum of patient populations that can teach us how to keep everyone well rather than responding in crisis when they become ill.”
The UCSF initiative will sequence the entire genome of any UCSF Health patient who signs up for the study, which can be done at the initiative’s website, 3dHealthStudy.org.
Patients who participate in the initiative will receive reports on their genetic ancestry as well as actionable genetic risk factors for selected diseases including cancer, cardiovascular disease and neurological disease. The initiative will only report findings for which there are clear clinical guidelines and management options that will allow UCSF Health providers to work with patients to reduce their health risks in a meaningful way.
The researchers said they are starting by focusing on a very specific list of actionable risk factors, but that as they expand the initiative they hope to add reports on genetic variants in drug response, polygenic risk scores for certain diseases, and other information that will be useful for patients and their medical teams.
The 3D Health whole genome data will be de-identified and integrated into a secure biorepository that includes de-identified clinical, social and behavioral information, and analyzed in UCSF’s precision medicine knowledge network, SPOKE, an AI-powered computational tool that will enable researchers and clinicians to define the underpinnings of health and the genetic and environmental determinants of disease across its diverse patient population.
The study has adapted to the COVID-19 pandemic by going completely contactless – informing patients about the study, obtaining consent, shipping DNA-collection kits to their homes, and processing the tests without requiring any in-person interaction.
Recruiting diverse participants is challenging due to structural biases in the American health care and health research systems, UCSF notes. This project is working with the Special Populations for Health Equity in Research and Education (SPHERE) Committee, which consists of diverse community leaders and a UCSF team with experience with diverse research participants.
UCSF Health patients may visit 3Dhealthstudy.org for more information or contact the study coordinators at [email protected].
