Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Ethics Watch
  • Published:

Implications of copy-number variation in the human genome: a time for questions

Nature Reviews Genetics volume 7, page 414 (2006)Cite this article

The discovery of CNVs as a universal feature of genomes coincides with growing interest in the influence of genomic variation on human characteristics, disease and evolution. Several ongoing or planned genotyping studies, such as the Human Genome Organisation Pacific Pan-Asian SNP Initiative and, of course, the International HapMap Project, hold interest for health-care providers, policy makers, bioethicists and the general public. Bioethicists are inextricably involved in examining social implications and developing ELSI guidelines. However, we will have to re-examine our previous conclusions and recommendations, because when earlier genomic mapping studies were designed, SNPs were the primary currency of genomic variation and little was known about CNVs and their implications.

Now, large-scale, genome-wide association or case–control studies, including those of the Wellcome Trust Case Control Consortium (15,000 samples), Broad Institute (12,000 samples), the Korean National Institute of Health (20,000 samples) and the public/private Genetic Association Information Network (GAIN), will undoubtedly incorporate CNV analyses into their designs. The Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER) project is perhaps one step ahead of others in its consideration of consent and database issues that are specific to CNVs, and might offer a precedent for future studies.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to the full article PDF.

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

References

  1. Feuk, L., Carson, A. R. & Scherer, S. W. Structural variation in the human genome. Nature Rev. Genet. 7, 85–97 (2006)

    Article  CAS  Google Scholar 

  2. Check, E. Human genome: patchwork people. Nature 437, 1084–1086 (2005)

    Article  CAS  Google Scholar 

  3. Royal, C. D. M. & Dunston, G. M. Changing the paradigm from 'race' to human genome variation. Nature Genet. 36, S5–S7 (2004)

    Article  CAS  Google Scholar 

  4. Lee, C. Vive la difference! Nature Genet. 37, 660–661 (2005)

    Article  CAS  Google Scholar 

  5. Daar, A. S. & Singer, P. A. Pharmacogenetics and geographical ancestry: implications for drug development and global health. Nature Rev. Genet. 6, 241–246 (2005)

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Public Health Sciences and Surgery, and McLaughlin Centre for Molecular Medicine, University of Toronto, Canada

    Abdallah S. Daar

  2. Program in Genetics and Genomic Biology, and The Centre for Applied Genomics, Hospital for Sick Children, Toronto

    Stephen W. Scherer

  3. Department of Molecular and Medical Genetics, University of Toronto,

    Stephen W. Scherer

  4. Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, and Schulich School of Medicine and Dentistry, University of Western Ontario, Canada

    Robert A. Hegele

Authors
  1. Abdallah S. Daar
    View author publications

    Search author on:PubMed Google Scholar

  2. Stephen W. Scherer
    View author publications

    Search author on:PubMed Google Scholar

  3. Robert A. Hegele
    View author publications

    Search author on:PubMed Google Scholar

Related links

Related links

FURTHER INFORMATION

Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Database of Genomic Variants

Human Genome Organisation

International HapMap Project

Rights and permissions

Reprints and permissions

About this article

Cite this article

Daar, A., Scherer, S. & Hegele, R. Implications of copy-number variation in the human genome: a time for questions. Nat Rev Genet 7, 414 (2006). https://doi.org/10.1038/nrg1884

Download citation

  • Issue date:

  • DOI: https://doi.org/10.1038/nrg1884

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing