We advance precision medicine in populations traditionally underrepresented in biomedical research.
On this page
- Health science poorly serves populations underrepresented in research
- Our approach
- Our focus
- About the people
- Our mission
Differences in disease incidence and outcomes: There are many common diseases which disproportionately affect some minority populations in the U.S. In some cases, higher incidence rates or worse outcomes may be due to poorer access to care, poor drug response, or other social or economic factors. Genetic factors may also play a role in particular diseases, and, more importantly, the combination of genetic factors and environmental factors is likely to mediate an even larger proportion of these differences. One of our goals is to vertically integrate omics technologies with socio-environmental factors to understand the etiology of some of these racial/ethnic differences in disease incidence and therapeutic response, with the ultimate goal of helping to prevent, to diagnose, and to treat disease better. However, even for diseases that currently show no disparities in incidence or clinical outcomes, minority populations will not benefit from future advances unless precision genomic medicine discovery work includes them.
A precision medicine gap: Medicine will undergo major changes due to discoveries in human genetics. Estimating disease risk, assessing prognosis, and predicting drug efficacy has improved considerably since the sequencing of the first human genome and will likely continue to improve as genetic discoveries are implemented in the clinic. However, the knowledge bank from which these tools have been developed draws mostly from populations of European ancestry. African Americans and Latinos comprise more than 30% of the U.S. population but represent only 2% and 0.5% of modern genetic studies, respectively.1 As a consequence, clinical use of such biased genomic knowledge banks may actually exacerbate health disparities.2 Thus, substantial genetic discovery and validation in populations of non-European ancestry need to be pursued.
Our goal is to boldly advance precision medicine in populations underrepresented in research. We combine the latest tools in human genetics and genomics with social and environmental epidemiology to promote equity in health care. A scientific mindset underlies everything we do. To address this gap in precision medicine we are:
- Amassing large datasets of diverse populations.
We have amassed large collections of datasets from minority patients with and without disease from a variety of common medical disorders that demonstrate striking racial/ethnic differences in prevalence and morbidity (asthma, breast cancer, multiple myeloma, and cystic fibrosis).
- Integrating data from a multitude of domains to improve understanding of genome-wide association study (GWAS) and sequencing results.
Data from functional genomics is now commonly used by human geneticists to interpret GWAS and sequencing results. Since data collection in non-Europeans is unlikely to reach parity with European ancestry populations in the near future, scientists working in this domain must rely more heavily on other disciplines such as functional genomics to interpret their results.
The center is an intellectual and laboratory-based biohub for research into:
- whole genome sequencing data of minority children with asthma and drug response, and
- genome-wide association data from minority women with breast cancer and therapeutics.
Our work has the potential to impact these and other diseases, transforming public health to be ever more inclusive and effective:
- Lung function and clinical reference equation standards
- Cystic fibrosis (CF)
- Breast cancer
- Multiple myeloma
- Non-small-cell lung cancer (NSCLC)
Esteban G. Burchard, MD, MPH leads the Asthma Collaboratory at the UC San Francisco (UCSF) Mission Bay Campus. In order to address the racial/ethnic disparities in genomic research, he has collected clinical, environmental, and genetic data for more than 15,000 minority children in the U.S. and Puerto Rico in the largest gene-environment study of minority children in the U.S. In November 2018 he was awarded $10 million USD from the NIH to begin a birth cohort study in Puerto Rico aimed at detangling the interplay between early-life respiratory illnesses and asthma. This cohort will represent the largest prospective study of minority infants in U.S. history and will provide novel and seminal information on genetic/viral risk factors for a multitude of severe respiratory illnesses.
Elad Ziv, MD focuses his research on the human genetics of cancer susceptibility and progression, particularly in minority populations and with a special emphasis on admixed populations. Ziv leads a large genome-wide association study of Latina breast cancer and co-leads a whole exome sequencing project involving Latinas. In February 2019 he was awarded a $3 million USD grant from the California Initiative to Advance Precision Medicine to pursue a greater understanding of how germline genetic variation in Latinas affects breast cancer risk and how somatic genetic variation in breast tumors in Latinas affects treatment outcome.
Our co-directors Ziv and Burchard have collaborated since 1999 and have shared laboratory space since 2005. The center collaborates with multiple universities and organizations across the continental United States, Puerto Rico, Mexico, Brazil, and Spain. Our collaborators are crucial for providing the center with recruitment, biobanking, and analysis. We are continually seeking others to join us in our mission of making precision medicine accessible for all.
The Center for Genes, Environment, and Health is composed of a passionate group of scientists at UCSF driven by three primary missions:
- Inclusion: Understand disparities in disease incidence, treatment response, and outcome.
- Application: Ensure that precision medicine tools are developed to benefit all populations.
- Education: Educate the next generation of clinicians and scientists, who will contribute to the mission of inclusion in education, clinical, and biomedical research.
We also believe that human genetic diversity offers scientific opportunities to gain a greater understanding of disease and therapeutic response.
- Sirugo G, Williams SM, Tishkoff SA. The Missing Diversity in Human Genetic Studies. Cell. 2019 May 2;177(4):1080. doi: 10.1016/j.cell.2019.04.032. PubMed PMID: 31051100.
- Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019 Apr;51(4):584-591. doi: 10.1038/s41588-019-0379-x. Epub 2019 Mar 29. Review. PubMed PMID: 30926966; PubMed Central PMCID: PMC6563838.