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.

  • Consensus Article
  • Published:

Terminology for sample collection in clinical genetic studies

The Pharmacogenomics Journal volume 1, pages 101–103 (2001)Cite this article

In a clinical research program involving genetic analysis, the taking of a blood or tissue sample for analysis may be the first and only physical involvement of a subject in the genetic aspects of the study. This sample therefore is a key link between the subject, the subject’s medical record, and the results of genetic analysis. The processes by which the samples might be stored, coded, archived, or transferred to others, and under which the results related to that sample are disclosed and used are critical to the relationship between the subject, researchers, and research sponsors. These processes have consequences for patient privacy, sample access and control, gene discovery, drug development, and product registration and regulation. Therefore, with the increase in the number of clinical trials with a genetic component and the advances in technology for rapid analysis of DNA sequences, DNA sampling has received considerable attention. Genetic information is a sensitive subject in the medical and scientific community and in the public generally. There is concern that individual genetic data could be used to discriminate against a subject in areas such as insurance or employment. Also, patients, their relatives, and their physicians worry about receiving information that is difficult to interpret and for which there is no commonly understood course of action. The specific processes for collecting, storing, and using DNA samples are key both to adequately protecting the subjects of clinical investigations and to enabling trials that may increase medical knowledge and develop new and more beneficial therapies.

Several ethical, regulatory, medical, and scientific bodies have described or defined processes for DNA sample collection in clinical research. In these processes, a clinical trial subject’s medical information and the subject’s sample are associated to meet the needs of medical research while protecting the rights of the research subjects.1,2,3,4,5 Unfortunately, in several cases, the terminologies elaborated in different publications are at odds with one another. The same term, for instance, ‘anonymous’, may have significantly different meanings in different publications. Conversely, the same process might be called ‘anonymous’ in one case and ‘unlinked’ in another (for examples see Refs 1 and 3).

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

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

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

References

  1. National Bioethics Advisory Commission (USA) Research Involving Human Biological Materials: Ethical Issues and Policy Guidance 1999

  2. Medical Research Council (UK) Human Tissue and Biological Samples for Use in Research (for Consultation) 1999

  3. Council for International Organizations for Medical Sciences Ethics and Epidemiology: International Guidelines 1990

  4. Human Genome Organization Ethics Committee Statement on DNA Sampling: Control and Access 1998

  5. World Health Organization Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services 1997

  6. The Pharmacogenetics Working Group: Abbott Laboratories, AstraZeneca, Bristol-Myers Squibb, Glaxo Wellcome, Janssen Research Foundation and the RW Johnson Pharmaceutical Research Institute, Merck, Novartis, Pfizer, Pharmacia, Roche, Schering AG, Schering-Plough, SmithKlineBeecham

  7. 21 Code of Federal Regulations (US), § 314.50

  8. Department of Health and Human Services (US) Information Sheet Required Recordkeeping in Clinical Investigations 1989

  9. ICH Harmonized Tripartite Guideline Structure and Content of Clinical Study Reports http://www.ifpma.org/pdfifpma/e3.pdf

Download references

Author information

Authors and Affiliations

  1. Pharmacogenetics Dept, Abbott Laboratories, Abbott Park, IL, USA

    B B Spear, M E Heath-Chiozzi & D M Barnes

  2. Astra-Zeneca, Experimental Medicine, Loughborough, UK

    K Cheeseman

  3. Bristol-Myers Squibb, Pharmacogenomics & Human Genetics, Princeton, NJ, USA

    P Shaw

  4. GlaxoSmithKline, Harlow, Essex, UK

    D A Campbell

  5. GlaxoSmithKline, Greenford, Middx, UK

    A McCarthy

  6. GlaxoSmithKline, RTP, North Carolina, USA

    S C Ray

  7. Pharmacogenetics, Novartis Pharmaceuticals Corp, East Hanover, NJ, USA

    K Culver

  8. Pfizer Global Research & Development, Sandwich Laboratories, Sandwich, Kent, UK

    D McHale

  9. Pharmacia Corp, Portage, MI, USA

    D C Anderson

  10. Roche Genetics, F Hoffman-LaRoche, Basel, Switzerland

    C Dahlstroem & L Hashimoto

  11. Schering AG, SBU Therapeutics, Berlin, Germany

    R Sandbrink

Authors
  1. B B Spear
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M E Heath-Chiozzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. D M Barnes
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. K Cheeseman
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. P Shaw
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. D A Campbell
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. A McCarthy
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. S C Ray
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. K Culver
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. D McHale
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. D C Anderson
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. C Dahlstroem
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. L Hashimoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. R Sandbrink
    View author publications

    You can also search for this author in PubMed Google Scholar

Consortia

on behalf of The Pharmacogenetics Working Group

Corresponding author

Correspondence to B B Spear.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Spear, B., Heath-Chiozzi, M., Barnes, D. et al. Terminology for sample collection in clinical genetic studies. Pharmacogenomics J 1, 101–103 (2001). https://doi.org/10.1038/sj.tpj.6500037

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.tpj.6500037

This article is cited by

Search

Advanced search

Quick links