Pharmacogenetics : ethics and public policy

Abstract

Giving medication with confidence and conviction is beneficial for both patient and doctor. There is a great expense and inconvenience in having to fine tune the dosing or sometimes change the drug, perhaps even more than once. Genetics may be the key to enhance the knowledge about the way different individuals react to a particular medicine. Although for more than 5 decades, different studies have put forward quite a number of examples of direct associations between genotypes and drug response, it was only recently that pharmacogenetics has been introduced as a new paradigm for drug development and optimum use. Associating the various genetic variations from clinical phenotypes may not be so direct. Moreover, challenges for future pharmacogenomics and its translation into personalized drug development need to be addressed. Pharmacogenetics’ applications include refining and improving the safety and efficacy of medicines by genotype-based prediction of responses. It also stratifies clinical trial populations in drug development, in order to identify patient genotypes which benefit most from the drug under development. This leads to the expectation of more personalized and less trial-and-error prescriptions. It also delivers an increased knowledge in reducing adverse outcomes by associating potential response rates to a particular medicine, to a specific group of patient respondents. However, regardless of pharmacogenetic connotations with adverse reactions, the clinical uptake of pharmacogenetic testing has been gradual and as yet, the efficacy and rapid response of how this technology can be utilized, is unclear. Pharmacogenetic testing, for some genetic profiles, can have an inferior positive prognostic value, which is one cause for underutilization. Hence, this project aims to raise awareness about some of the challenges with implementing this existing technology, including clinical utility, education for particular professionals in the field of healthcare, and regulatory issues, among others. This emerging science, although hosting a lot of prospects, also raises a lot of ethical questions. The problem of stratification of patient populations is addressed, promoting responsible and accountable scientific intellectual liberty. This will avoid appalling discrimination to vulnerable populations. Therefore, the need to encourage informed consent and confidentiality together with promoting autonomy, justice and equity by developing worldwide equivalent ethical, legal and regulatory frameworks. Furthermore, a survey is also included in this study which explores pharmacogenetics in personalised medicine. It provides additional information on the pharmacogenomic knowledge amongst doctors and pharmacists in Malta. The survey concludes that few respondents reported familiarity with the type of pharmacogenomic tests that were appropriate for specific clinical situations, thus uncovering the fact that that there is a low clinical integration of pharmacogenetic testing. Only 10% of the respondents know about patients who have undergone a pharmacogenetic test of which only 4% of respondents being directly involved in the management of such a treatment.