Medicine uses many tools to measure the human condition, in wellness and illness. These tools include medical, family, and social history; physical examination, imaging, and laboratory evaluation.
‘Omics medicine is a term we use for the next generation of laboratory tools, which open new windows into the molecular makeup of an individual. They are powerful contributors to our knowledge network and our ability to prevent and treat disease across the lifespan:
- Testing can diagnose individuals that are carriers for inherited diseases and guide counseling and intervention before pregnancy.
- Prenatal genomics can detect genetic disease in the womb and pinpoint genome editing targets for future therapies.
- Genomics and metabolomics are used to diagnose newborns with serious medical conditions and can change the course of the disease in many babies and children.
- In healthy individuals, genomics can assess the risk for cancer and other diseases and reveal how individuals will interact with certain medications.
- Genomics in tumor testing are providing insights into the molecular underpinnings of cancer and find new targets for therapies.
More Than Just Genomics
There are many 'omics that science is looking into:
- The epigenome is the expression of your genome via transcriptomics.
- Proteomics studies the products of RNA.
- Metabolomics is the study of metabolites.
- DNA-based tools can also detect bacteria, parasites and viruses that coexist in our bodies through metagenomics.
- Inflamomics, lipidomics, glycomics, and other large molecular data sets can be used to diagnose and predict disease.
‘Omics at UCSF
UCSF’s Genomic Medicine Initiative (GMI) bridges genomic technologies and medical practice to provide more precise patient diagnostics and care. GMI researchers apply genomics to better understand the clinical uses of prenatal, neonatal and pediatric genomes. They also created a tumor diagnostic tool, UCSF500, to classify tumors and guide therapeutic intervention.
The clinical services at the UCSF Health Center for Clinical Genetics and Genomics are using ‘omics tools to care for patients. For instance, patients with rare, undiagnosed conditions often struggle with symptoms for which the cause is unknown, despite a battery of standard tests. With no clear answers, patients may experience a “diagnostic Odyssey”, taking one test or procedure after another in an attempt to understand and find treatment for their symptoms. With 'omic technologies and careful phenotyping, researchers and clinicians look to decipher an individual’s disease and provide an effective treatment plan.
Driving Projects
The UCSF Clinical Cancer Genomics Laboratory (CCGL), led by James Grenert, MD, PhD, performs standard-of-care and advanced molecular testing for patients with cancer, and to provide special expertise in solid tumors. The laboratory's diverse capabilities include targeted gene sequencing, microsatellite instability testing, fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS).
The Genomic Medicine Initiative serves as a preeminent hub for innovative genetic diagnosis, counseling and testing, and spans pre-conception, pre-implantation, prenatal, neonatal, cancer, pediatric and adult conditions. The UCSF Genomic Medicine Initiative (GMI) has developed a CLIA-certified Whole Exome Sequencing (WES) protocol, applying cutting-edge sequencing and bioinformatics pipelines to diagnose complex clinical cases.
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.
