Abstract
Integrative analysis and modeling of the omics data using systems biology have led to growing interests in the development of predictive and personalized medicine. Personalized medicine enables future physicians to prescribe the right drug to the right patient at the right dosage, by helping them link each patient’s genotype to their specific disease conditions. This chapter shares technological, ethical, and social perspectives on emerging personalized medicine applications. First, it examines the history and research trends of pharmacogenomics, systems biology, and personalized medicine. Next, it presents bioethical concerns that arise from dealing with the increasing accumulation of biological samples in many biobanking projects today. Lastly, the chapter describes growing concerns over patient privacy when large amount of individuals’ genetic data and clinical data are managed electronically and accessible online.
TopPersonalized Medicine: The History
While medicine has always been, to some extent, “personalized” (for example, even ancient codes of medical ethics spoke of the ethical expectations of physicians to consider the well being of individual patients (Daikos, 2007), our current preoccupation with personalized medicine evolved from the new capacity to take “trial-and-error” out of the modern drug development process (Naylor & Chen, 2010). Unlike personalized medicine practiced for thousands of years, in which clinical symptoms derived at the physiological level (e.g., pulse rhythms, tongue color, temperature, pain points, and facial characteristics) were used to “personalize” diagnosis and treatment regimen (e.g., compound formulation of herbal medicine), modern personalized medicine seek to incorporate molecular information of the patient into modern medical decision makings. Optimal administration of drugs would be customized for each individual, after his/her unique genetic makeup is retrieved from molecular medical records to be created and taken into considerations.
Key Terms in this Chapter
Personalized Medicine: Is a medical model that emphasizes the systematic use of information about individual patients to select or optimize that patient’s health care. Broadly, it can also be defined as products and services that leverage the science of omics and systems biology to empower consumer-centric health, wellness, and tailored medical care. It is often referred to as “the right treatment for the right person at the right time.”
Electronic Health Record (EHR): Is systematic collection of electronic health information about individual patients or populations. It is a digital record that may be access by different health care providers. EHRs may include patient individual or summarized information such as demographics, medical history, medication and allergies, immunization status, laboratory test results, radiology images, and billings.
Privacy by Design (PbD): Ensures the protection of privacy through the use of privacy enhancing features – embedding them into the design specifications of systems, organizational practices and procedures, and physical environments – making privacy the default.
Biobank: Refers to a research resource or archive repository of biological samples taken from different individuals or species.
Genetic Information Privacy: Is defined as an individual’s right to protection from non-voluntary disclosure of genetic information.
Pharmacogenetics: Is the branch of pharmacology which examines the influence of genetic variation on drug response, primiarly one gene at a time.
Informed Consent: Is a legal phrase to indicate that a person has given consent based upon a clear appreciation and understanding of the facts, implications, and future consequences of an action.
Bioethics: Is the philosophical study of the ethical controversies brought about by advances in biology and medicine. Bioethicists are concerned with the ethical questions that arise in the relationships among life sciences, biotechnology, medicine, politics, law, and philosophy.
Single-Nucleotide Polymorphism (SNP): Refers to a DNA sequence variation that occurs when a single nucleotide — A, T, C, or G — in the genome (or other shared sequence) differs between members of a species or paired chromosomes in an individual.
Pharmacogenomics: Is the whole genome application of pharmacogenetics, which examine the large-scale influence of genetic variation on drug response in patients by correlating genome-scale gene expression or single-nucleotide polymorphisms with a drug’s efficacy or toxicity. By doing so, pharmacogenomics aims to develop rational means to optimize drug therapy to o ensure maximum efficacy with minimal adverse effects.