Ethical Considerations in the Genomic Era

  • Bridget EllulEmail author
Part of the Advances in Predictive, Preventive and Personalised Medicine book series (APPPM, volume 9)


Pharmacogenomics is a powerful molecular tool in biomedical research aimed at providing personalised medicine in everyday clinical practice, best described as the provision of ‘the right drug for the right patient at the right dose’, that is safe, effective therapy, with minimal adverse reactions. The patient, is the main beneficiary but is also the indispensable key player, providing biological material for research.

This chapter focuses primarily on ethical issues as they affect the patient undergoing pharmacogenetic tests for personalised treatment, the subject enrolled in a clinical trial or participating in genomic research or the healthy person donating biological material for biobanking and research. Issues affecting the other stakeholders will also be pointed out, but again mainly from the perspective of the consumer.

Discussion centres on the right to beneficience, explored through benefit to risk ratio and the right to autonomy, exercised through informed consent with safeguards to ensure privacy and confidentiality in the handling of biological samples and data. Elements of justice will be introduced in relation to the target of equitable access to healthcare.

The basic ethical principles must be upheld through regulatory frameworks. States have embraced various instruments, from local and international guidelines to national legislation, but as genomic research increasingly moves into the global non interventional arena, the vision is of facilitation of international cooperation through harmonised regulations.


Informed consent Ethical approval Pharmacogenetic test uptake Data protection Clinical trials - Biobank 


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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  1. 1.Faculty of Medicine and SurgeryUniversity of Malta Medical SchoolMsidaMalta

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