Skip Navigation

Glossary of Terms for Personalized Health Care Website

Biomarkers: The biological parameters associated with the presence and severity of specific disease states. Biomarkers are detectable and measurable by a variety of methods including physical examination, laboratory assays and medical imaging.

Genetic testing examines a person's genetic code, using a sample of blood or other body fluids/tissues, for health or medical identification purposes.

The Genome is all the genetic information possessed by an organism. Genomics is the study of this genetic information.  A Genotype is the genetic identity of an organism. 

Genome Wide Association Studies: An approach that involves rapidly scanning markers across an individual’s genome, to find genetic variations associated with a particular disease. Once new genetic targets are identified, researchers can use the information to develop better strategies to detect, treat and prevent the disease.

Health informatics or medical informatics is the intersection of information science, medicine and health care. It deals with the resources, devices and methods required to optimize the acquisition, storage, indexing, retrieval and use of information in health and biomedicine. Health informatics tools include not only computers but also clinical guidelines, formal medical terminologies, and information and communication systems.

Micro array Technology : A new way of studying how large numbers of genes interact with each other and how a cell's regulatory networks control vast batteries of genes simultaneously.

Personalized health care describes medical practices that are targeted to individuals based on their specific genetic code in order to provide a tailored approach.  These practices use preventive, diagnostic, and therapeutic interventions that are based on genetic tests and family history information. The goal of personalized health care is to improve health outcomes and the health care delivery system, as well as the quality of life of patients everywhere. 

Phenotype: The observable traits or characteristics of an organism, for example hair color, weight, or the presence or absence of a disease. Phenotypic traits are not necessarily genetic.

Pharmacogenomics: The study of how variations in the human genome affect an individual’s response to medications.

Additional definitions can be found at the National Human Genome Research Institute (NHGRI) Talking Glossary of Genetic Terms.  This can help people without scientific backgrounds understand the terms and concepts used in genetic research.  Students, teachers and parents will find the glossary an easy-to-use, always available learning source on genetics.

The National Cancer Institute also has a dictionary of more than 4,000 cancer-related terms. This resource is updated monthly; new terms are reviewed by a multidisciplinary panel of reviewers, and approximately 30 terms are added each month.