Ethics: Informed Consent, Patient Privacy

Molecular diagnostics has been dependent on genetic or genomic testing or other high-throughput omic technologies and progressed significantly by rapid advances of novel technologies and bioinformatics during the last decade of intensive research. It is now has been moved on to the clinical implication in the diagnosis, individual-level treatment regimens, prognosis, as well as risk assessment and disease prevention [1-3]. In the meanwhile, consumer genomics companies who provide the direct-to-consumer (DTC) testing services are rapidly emerging [4]. Notably, ethical issue, an important topic of debate crossing the fields such as sociology, psychology, and legal issues, is naturally arising and should be carefully considered while the exciting achievement that the field collectively has made [5, 6]. For example, given by the certain features of genetic or genomic information which differentiated it from other medical data, a by-product of genetic testing and secondary or incidental findings of genomic testing are beyond the scope of traditional informed consent. Also, the acquired data for biobank repositories and accompanying databases would make the sensitive information of individual patient to be potentially identifiable. Thus, a comprehensive review of these issues and the establishment of a new protocol or procedure adapted to the current laws and regulations in the field of molecular diagnostics are urgently needed. This chapter will review and discuss the key ethical issues including informed consent and patient privacy during the performance of such testing. We hope these discussions will lead to future standard principles in the course of medical practice.