The goal of precision medicine, as laid out by the National Academy of Sciences, “is to embed our scientific enterprise into the normal course of clinical care.” As a result, clinical discovery reaches beyond clinical trials and research using human samples and data. It also involves incorporating trial and research results, electronic health records and other types of personal health data into the clinic. Those findings are then shared with other clinicians, researchers, policy makers and technology developers through the knowledge network.
By analyzing clinical information from a large number of healthy participants and patients with a given condition and combining that data with genetics, treatment response and other information, we can identify patterns of health, disease and treatment that might otherwise be invisible. In this way, precision medicine translates research discoveries into clinical practice. In turn, clinical discovery plays an essential role in developing and making resources available to researchers.
One invaluable tool for clinical discovery is a biobank, a repository of tissues and accompanying data that can be used for research purposes. UCSF biobanks are vital to obtaining molecular and genomic data, but they are only fully useful if they have consistent, accessible and high-quality samples. To that end, the UCSF Clinical and Translational Science Institute is devising consistent and reliable approaches for consent, tissue collection and use, as well as creating a virtual biorepository that links all biobanks throughout UCSF.
Digital health goes hand in hand with clinical data collection. Wearable devices and clinical instruments that can record patient information accurately can provide a plethora of new information. Electronic health records are key to incorporating clinical information – including diagnostic tests, demographics and genomic data – and sharing information between clinicians, researchers and patients.
The relationship between clinical discovery and basic discovery is a dynamic one. Next-generation sequencing (NGS), for example, was developed in the basic discovery setting, but is now the underlying ‘omic technology behind many clinical precision medicine projects, including a UCSF investigation of the use of NGS in rapid identification of infectious diseases. Similarly, patterns revealed by clinical trial data and biobank specimens can inform new research questions.
Driving Projects
Led by Riley Bove, MD, Kate Rankin, PhD and Stephan Sanders, PhD, BRIDGE is a SMART on FHIR application that launches from APeX and is already available in four pilot clinics: Autism, Geriatrics, Memory and Aging Center, and Multiple Sclerosis. A platform that allows for configuration of new clinic specific dashboards making use of our existing data integrations and widgets. The BRIDGE platform can also be extended to add additional data source integrations, algorithms and visualizations. Learn more about how BRIDGE works in this article.
The MS Bioscreen is a data infrastructure platform that gathers all relevant MS data from different sources, including clinical, imaging, and biomarker information, visually represents the disease course of an individual with MS from a front-end interface, and frames this course within the context of a large cohort of patients treated according to contemporary standards.
This trans-disciplinary program is designed to improve understanding and treatment of patients with congenital anomalies and pregnancy complications. The program aims to integrate existing demographic, epidemiological, social, environmental, clinical and biomarker data in an effort to predict risk of adverse outcomes and response to treatment. By doing so, the program will create stronger bridges between basic research and clinical applications, and improve maternal, fetal and neonatal care.
Since its inception in 2015, the Biospecimen Resource Program (BIOS) has been dedicated to providing infrastructure, services, and training to support research requiring biospecimens. We provide end-to-end support of the full biospecimen life cycle, including broad future-use sampling, assay-specific optimization, cold-chain logistics, and compliance and regulatory expertise. BIOS offers the next-generation of resources and tools for electronically consenting participants and tracking all EHR data and transomic annotations relevant to the biospecimens in a central virtual ecosystem.
The UCSF Center for Next-Gen Precision Diagnostics (NGDx) pioneers the development of novel technologies for diagnosing mysterious illnesses. An assay to detect all potential pathogens is now clinically available for diagnosis of neurological infections in acutely ill hospitalized patients. An example of the power of this center may be found here.
