About

Overview

The data driving precision medicine are heavily biased towards European ancestry populations. African Americans and Latinos comprise more than 30% of the U.S. population yet represent only 2% and 0.5% of modern genetic studies, respectively.1 Genetic disparities like this, combined with disparities in socio-economic and/or health care delivery factors, are likely to cause persistent gaps in our ability to apply precision medicine tools to diverse populations. As such, it is the mission of UCSF Center for Genes, Environments, and Health (UCSF-CGEH) to advance precision medicine in populations traditionally underrepresented in biomedical research.

The center is a joint venture between the Department of Bioengineering and Therapeutic Sciences (BTS) and the Department of Medicine. BTS is a joint department of the UCSF Schools of Pharmacy and Medicine. The Department of Medicine is a department of the UCSF School of Medicine.

Our motivation

Health science poorly serves populations underrepresented in research

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.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 approach

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.
Our work has the potential to impact  Asthma, Lung function and clinical reference equation standards, Cystic fibrosis (CF), Breast cancer, Multiple myeloma, Non-small-cell lung cancer (NSCLC), and other diseases, transforming public health to be ever more inclusive and effective
 
 

Our focus

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 mission

The UCSF Center for Genes, Environment, and Health is composed of a passionate group of scientists driven by three primary missions:

  1. Inclusion: Understand disparities in disease incidence, treatment response, and outcome.
  2. Application: Ensure that precision medicine tools are developed to benefit all populations.
  3. 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.

Footnotes

  1. 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.
  2. 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.