September 11, 2017  |  General

At PMLS Meeting, a Focus on Boosting Genomic Representation of Ethnic Diversity

A panel session at the recent Precision Medicine Leaders Summit, held in San Diego last month, offered great perspectives on the need to better represent global ethnic diversity in order to make the most of genomic advances for all patients.
Panelists included Robert Sebra from the Icahn School of Medicine at Mount Sinai; NCBI’s Valerie Schneider; Benedict Paten from the University of California, Santa Cruz – representing the Global Alliance for Genomics and Health; and Justin Zook, co-leader of the NIST Genome in a Bottle (GIAB) Consortium. The discussion was moderated by our own Luke Hickey.
The session kicked off with a look at a study published in the New England Journal of Medicine that found a greater number of incorrect genetic test results in black Americans than in white Americans for an inherited heart disorder. Along with other examples, that provided a good foundation for a conversation about the risk of health disparities based on genomic data. The speakers also discussed how the human reference genome and other sources contribute to genetic bias.
Clearly, benefits from precision medicine should be equally available to people from all ethnic groups. The panel talked about ongoing efforts to improve the human reference genome and other resources by including more ethnic diversity, as well as recent efforts to establish new population-specific reference genomes. Examples included GIAB projects to sequence trios, resulting in high-quality Ashkenazim Jewish ancestry genome assemblies, and international programs that have recently presented excellent assemblies for Korean, Chinese, Japanese, African, and Danish individuals.
Looking to the future, panelists spoke about improving study and test design to represent diversity. They also discussed how the community can work to make precision medicine more accurate for all ethnic groups, including data-sharing programs and more.

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