Human difference in the genomic era: Facilitating a socially responsible dialogue

Knerr et al. BMC Medical Genomics 2010, 3:20 http://www.biomedcentral.com/1755-8794/3/20 Open Access DEBATE Human difference in the genomic era: Facilitating a socially responsible dialogue Debate Sarah Knerr†1,3, Edward Ramos*†1,2, Juleigh Nowinski1,4, Keianna Dixon1,5 and Vence L Bonham1 Abstract Background: The study of human genetic variation has been advanced by research such as genome-wide association studies, which aim to identify variants associated with common, complex diseases and traits. Significant strides have already been made in gleaning information on susceptibility, treatment, and prevention of a number of disorders. However, as genetic researchers continue to uncover underlying differences between individuals, there is growing concern that observed population-level differences will be inappropriately generalized as inherent to particular racial or ethnic groups and potentially perpetuate negative stereotypes. Discussion: We caution that imprecision of language when conveying research conclusions, compounded by the potential distortion of findings by the media, can lead to the stigmatization of racial and ethnic groups. Summary: It is essential that the scientific community and with those reporting and disseminating research findings continue to foster a socially responsible dialogue about genetic variation and human difference. Background The accomplishments of the Human Genome Project have ushered in a new genomic era. The mission to decipher our genetic blueprint is being succeeded by a mission to understand the interplay between genetic factors, the environment, and human traits in order to promote health through novel treatments and preventative strategies. Genetic differences that exist between individuals and groups are a key piece to this complex puzzle. Referred to as human genetic variation (HGV), these differences can be single base changes (single nucleotide polymorphisms, or SNPs) as well as large stretches of DNA that are deleted, duplicated, or inverted (i.e., structural or copy number variations) [1-4]. Knowledge gained from continued research into HGV holds tremendous promise for the personalization of medicine by linking individual genetic information--in addition to nongenetic risk factors--to disease prevention and drug response [5]. The expected benefit of individualizing medical treatments in this way is a more efficient predic- * Correspondence: 1 National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, Bethesda, MD 20892 USA † Contributed equally Full list of author information is available at the end of the article tion, prevention, diagnosis, and treatment of human disease. The recent and rapid technological advances in how we gather genomic information are driving forces of scientific progress in the genomic era. The development of "next generation sequencing" techniques, for example, has caused the price of full genome sequencing to fall rapidly. The pace at which the field is moving makes predicting future costs difficult, as estimations are quickly outdated [6]. For example, the sequencing of Craig Venter's genome in 2007 [7] and James Watson's genome [8] in 2008 took approximately two months and cost just under $1 million dollars; however, Dr. James Lupski of Baylor College of Medicine recently reported sequencing his entire genome for $50,000 [9]. This figure will likely continue to decrease in the near future as indicated by Complete Genomics' efforts towards a $5000 genome [10] and the continued interest in personal genomics [11]. Removing cost barriers to obtaining whole-genome data has dramatically expanded the range of research questions that geneticists can explore. The increased speed and accuracy of genetic analysis has made genome-wide association studies (GWAS)--statistical associations between known genetic variants and quantitative traits-a powerful research technique. As a result, the number of genomic variants associated with diseases and other © 2010 Knerr et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons BioMed Central Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Knerr et al. BMC Medical Genomics 2010, 3:20 http://www.biomedcentral.com/1755-8794/3/20 human characteristics has been climbing, with the pace of discovery quickening dramatically in the past year [12,13]. As of July 27th 2009, 369 papers describing 1682 SNPs associated with diseases ranging from type I diabetes [14] to narcolepsy [15] and traits such as hip bone size [16] and height [17] have been published in peerreviewed journals http://www.genome.gov/gwastudies. Most variants identified through GWAS explain only a small percentage of the associated trait's heritability and must also be considered within the context of environment. Translating this type of genetic information into preventative health and medical interventions, especially with little existing evidence-based research relevant to each disease, remains an elusive goal. Despite uncertainty about the ultimate clinical utility of many new genetic discoveries, there is no doubt that we are in an era of large-scale genomic studies which aim to understand the intricate details of human traits across different groups and between individuals. Significant progress has been made in understanding genetic differences by comparing individuals on the basis of genotype data rather than social classifications [18]. However, uncovering these genetic differences has raised important questions about how to articulate the complex patterns of human genetic variation that scientists are beginning to uncover. Allele frequency can be correlated with geographic ancestry, meaning certain variants may be more common among individuals whose predecessors lived in the same area, but translating this type of information into identifiable groups that are currently meaningful in a clinical setting has been difficult. Frequently, geneticists describe "populations" for which their results apply, but this term can be ambiguous and imprecise and often refers to current social categories of race and ethnicity, which are not genetically distinct. Moreover, throughout history, science has been misused to demonstrate differences between human groups and rationalize discrimination. Therefore, it is essential for current and future research on genetic variation to consider the lessons learned from past studies of human difference and recognize the current social and political environment in which results will be contextualized. The caution of accuracy and precision in reporting and interpreting genetics research spans the scientific, media, and public communities. However, the suggestions laid forth are geared specifically to genetics and genomics researchers as t (...truncated)