Ethical Perspectives on Pharmacogenomic Profiling

Pharmacogenomics (PGx), an expanding area of precision medicine, focuses on identifying biomarkers of drug response variability to maximize the safety and efficacy of drug treatment based on patient's genetic make-up. While advances in omics technologies have provided the ability to simultaneously process thousands and thousands of samples, the large amount of output data has generated several ethical, legal, and social issues in PGx research concerning privacy and discrimination. Therefore, PGx research involving humans must be designed with respect for the bioethical principles of beneficence, non-maleficence, autonomy, and justice. Sensitive data, including secondary information outside the objectives of the research study, can be disclosed and shared with third parties representing a potential source of stigma, so the need to ensure the confidentiality of research participants should be a high priority. On the other hand, the classification as "at risk" for adverse drug reactions or "non-responders," the differences between geographically well-defined groups as well as the inclusion in a vulnerable group can be reasons for discrimination. All these issues must be explained and included in the informed consent process provided to research participants. In addition to these aspects, in this book, clinical trial design, biomarker validation and drug development studies are also discussed. All these topics should be carefully evaluated in the aim to overcome barriers for pharmacogenomics implementation as part of routine healthcare in the general vision of precision medicine guidelines harmonized.