Emma Kowal, MBBS, PhD
Professor of Anthropology, Alfred Deakin Institute for Citizenship and Globalisation, School of Humanities and Social Science, Deakin University, Melbourne, Australia
Special Seminar
Sequencing of the human genome at the turn of the 21st century was hailed as revealing the overwhelming genetic similarity of human groups. Scholars of genomics critiqued the subsequent persistence of race-based genetic science but were reassured that the wide availability of gene sequencing would end the use of race as a proxy for genetic difference. At the same time, genome science was recognising that the differences among genomes went beyond sequence to the structure of the genome itself, including insertions, deletions, translocations, inversions, and copy number variations. This means that the ‘universal’ reference genome used for genome sequencing is not so universal. As conventional, ‘short-read’ sequencing wrongly assumes that all genomes have the same structure, significant genetic variation can be missed.
This presentation examines two proposed solutions to the biases of short-read sequencing: ‘long-read’ sequencing and ‘ethnicity-specific reference genomes.’ Our analysis of one ethnicity-specific reference genome project, the Korean Reference Genome (KOREF), finds that it unduly emphasizes the importance of population structural variation, framed in nationalist terms, and discounts the importance of individual structural variation. We argue that the intellectual labour required to make a Korean reference genome a coherent concept extends the horizon of race, prolonging the time that race remains a seemingly valid concept in genomic science.
Seminar on Ethical, Legal and Social Implications of Genetics
Wednesday, April 10th, 2019 1:00-2:00 pm
Rm. Rm. 10-405B, Irving Institute for Clinical and Translational Research, 10th Floor, Presbyterian Hospital (PH) Building, 622 W. 168th Street
