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Global gene mining and the pharmaceutical industry

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Abstract

Worldwide efforts are ongoing in optimizing medical treatment by searching for the right medicine at the right dose for the individual. Metabolism is regulated by polymorphisms, which may be tested by relatively simple SNP analysis, however requiring DNA from the test individuals. Target genes for the efficiency of a given medicine or predisposition of a given disease are also subject to population studies, e.g., in Iceland, Estonia, Sweden, etc. For hypothesis testing and generation, several bio-banks with samples from patients and healthy persons within the pharmaceutical industry have been established during the past 10 years. Thus, more than 100,000 samples are stored in the freezers of either the pharmaceutical companies or their contractual partners at universities and test institutions.

Ethical issues related to data protection of the individuals providing samples to bio-banks are several: nature and extent of information prior to consent, coverage of the consent given by the study person, labeling and storage of the sample and data (coded or anonymized). In general, genetic test data, once obtained, are permanent and cannot be changed. The test data may imply information that is not beneficial to the patient and his/her family (e.g., employment opportunities, insurance, etc.). Furthermore, there may be a long latency between the analysis of the genetic test and the clinical expression of the disease and wide differences in the disease patterns. Consequently, information about some genetic test data may stigmatize patients leading to poor quality of life. This has raised the issue of ‘genetic exceptionalism’ justifying specific regulation of use of genetic information.

Discussions on how to handle sampling and data are ongoing within the industry and the regulatory sphere, the European Agency for the Evaluation of Medicinal Products (EMEA) having issued a position paper, the Council for International Organizations of Medical Sciences (CIOMS) having a working group on this issue, and the European Society of Human Genetics preparing background paper on ‘Polymorphic sequence variants in medicine: Technical, social, legal and ethical issues. Pharmacogenetics as an example’. Within the European project Privacy in Research Ethics and Law (PRIVIREAL), recommendations for common European guidelines for membership in research ethical committees have been discussed, balancing the interests and assuring independence and legal competence. Good decision making, assuring legality of protocols and assessment of data protection is suggested to be part of any evaluation of protocols.

Section snippets

Genetic testing

Genetic testing is increasingly used as a tool for optimizing individual treatment with the most efficient medicinal product or for selection of optimal individual dosing. Pharmacogenomic approaches to drug discovery and delivery have been recognized by EMEA and FDA and recommendations are discussed to harmonize terminology and use of samples and data (EMEA, 2002, FDA, 2003). Pharmacogenomics cannot improve the efficacy of a given drug, but it helps in selecting patients who are likely to

Ethical analysis

Ethical issues in pharmacogenomics are not only based on the general concern that the ability to diagnose a genetic disorder before any treatment is available and does more harm than good to the patient, e.g., in relation to employment, insurance, educational, and loaning opportunities.

In medicine, the following ethical principles apply (Beauchamp and Childress, 1994):

  • •

    Respect for the autonomy of persons: respecting the self-determination of individuals and protecting those with diminished

Coding of samples

Commercial interests are evident in building up bio-banks for future testing in drug development. A precise protocol for coding of data and samples as either identifiable (and accessible for follow-up) or anonymized is discussed within the area of pharmacogenomics and recommended by EMEA (2002):

  • Identified samples

    are those labeled with personal identifiers such as Name or Social Security Number.

  • Single-coded samples

    are samples to which a single specific code is attributed for protecting individuals. The key connecting the code to the

Recommendations/conclusions

Pharmacogenetics has many prospects and bio-banks with useful samples collected from patients have been established worldwide. Common guidelines for protocols including sampling and storage of data and samples (Information, Consent, Data-protection) will be developed to assure harmonization. These guidelines may serve the data protection within genetic testing as well as other medical testing. Assuring transparency in sampling and communication of results in pharmacogenetic studies may prevent

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