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Inclusivity, Diversity, Equity, and Access in Genomics

Overview

The future of medicine rests on a foundation of genomics. Yet there is vast disparity in human representation in genomic databases which underpins much of today’s scientific and clinical research, and enables discoveries driving precision medicine. Historically marginalized communities and those of lower socioeconomic status are most significantly underrepresented. This inequity impedes the ability to deliver the promise of personalized medicine healthcare to those who may need it most. Future research populations must be more representative of the rich diversity of global populations.

Program Goal

To exponentially increase the opportunity for underrepresented groups to participate in the holistic benefits of precision medicine healthcare, specifically by:

  • Establishing local access to healthcare clinics providing state-of-the-art precision medicine,
  • Leveraging proven testing modalities, advanced tools, and methods for individual care, with a keen focus on prediction, prevention, diagnosis, and early treatment of disease
  • Ensuring ethical and appropriate biomedical research, and
  • Instituting rightful ownership of resulting discoveries and data

Expected Benefits

  1. Significantly improved healthcare outcomes
    We would expect to identify health issues at earliest stages (cancer, aneurisms, fatty liver disease/pre-diabetes, etc.) from which better and more targeted interventions are possible.
  2. A greater understanding of health and disease unique to these communities
    The analysis will include tools that will build population references of measures, including genomic variant frequencies. These references will help identify abnormalities that are unique to each population, which will assist in the development of diagnostics and therapeutics specific to population needs.

Strategy and Approach

We will embark on a mission to establish common methodologies, testing modalities and shared resource expertise, help catalyze the cost-efficient launch of multiple healthcare hubs in various remote locals, as determined by community/partner engagement and the availability of funding.

Publications

Nature microbiology. 2023-10-01; 8.10: 1777-1786.
Microbiome ownership for Indigenous peoples
Handsley-Davis M, Anderson MZ, Bader AC, Ehau-Taumaunu H, Fox K, Kowal E, Weyrich LS
PMID: 37770744
Nature machine intelligence. 2022-11-15; 4.11: 909-911.
Federated learning and Indigenous genomic data sovereignty
Boscarino N, Cartwright RA, Fox K, Tsosie KS
PMID: 36504698
Cell. 2022-07-21; 185.15: 2626-2631.
Establishing a blockchain-enabled Indigenous data sovereignty framework for genomic data
Mackey TK, Calac AJ, Chenna Keshava BS, Yracheta J, Tsosie KS, Fox K
PMID: 35868267
15-May-2023
Science

Privacy concerns sparked by human DNA accidentally collected in studies of other species

Two research teams warn that human genomic “bycatch” can reveal private information

10-May-2023
New York Times

Scientists Unveil a More Diverse Human Genome

The “pangenome,” which collated genetic sequences from 47 people of diverse ethnic backgrounds, could greatly expand the reach of personalized medicine.

10-May-2023
Nature

First human ‘pangenome’ aims to catalogue genetic diversity

Researchers release draft results from an ongoing effort to capture the entirety of human genetic variation.