The phenotype of an organism is the composite of the organism's observable characteristics or traits, including its morphology or physical form and structure; its developmental processes; its biochemical and physiological properties; its behavior, and the products of behavior, for example, a bird's nest. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors, which may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black and brown. Richard Dawkins in 1978 and then again in his 1982 book The Extended Phenotype suggested that bird nests and other built structures such as caddis fly larvae cases and beaver dams can be considered as "extended phenotypes".
Computational biology involves the development and application of data-analytical and theoretical methods, mathematical modeling and computational simulation techniques to the study of biological, ecological, behavioral, and social systems. The field is broadly defined and includes foundations in biology, applied mathematics, statistics, biochemistry, chemistry, biophysics, molecular biology, genetics, genomics, computer science and evolution.
Pharmacogenomics is the study of the role of the genome in drug response. Its name reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of an individual affects his/her response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response in patients by correlating gene expression or single-nucleotide polymorphisms with pharmacokinetics and pharmacodynamics. The term pharmacogenomics is often used interchangeably with pharmacogenetics. Although both terms relate to drug response based on genetic influences, pharmacogenetics focuses on single drug-gene interactions, while pharmacogenomics encompasses a more genome-wide association approach, incorporating genomics and epigenetics while dealing with the effects of multiple genes on drug response.
Personalized medicine, precision medicine, or theranostics is a medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease. The terms personalized medicine, precision medicine, stratified medicine and P4 medicine are used interchangeably to describe this concept though some authors and organisations use these expressions separately to indicate particular nuances.
Multifactor dimensionality reduction (MDR) is a statistical approach, also used in machine learning automatic approaches, for detecting and characterizing combinations of attributes or independent variables that interact to influence a dependent or class variable. MDR was designed specifically to identify nonadditive interactions among discrete variables that influence a binary outcome and is considered a nonparametric and model-free alternative to traditional statistical methods such as logistic regression.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
In pharmacology, the term mechanism of action (MOA) refers to the specific biochemical interaction through which a drug substance produces its pharmacological effect. A mechanism of action usually includes mention of the specific molecular targets to which the drug binds, such as an enzyme or receptor. Receptor sites have specific affinities for drugs based on the chemical structure of the drug, as well as the specific action that occurs there. Drugs that do not bind to receptors produce their corresponding therapeutic effect by simply interacting with chemical or physical properties in the body. Common examples of drugs that work in this way are antacids and laxatives.
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 325 million SNPs have been identified in the human genome, 15 million of which are present at frequencies of 1% or higher across different populations worldwide.
Myriad Genetics, Inc. is an American molecular diagnostic company based in Salt Lake City, Utah, United States. Myriad employs a number of proprietary technologies that permit doctors and patients to understand the genetic basis of human disease and the role that genes play in the onset, progression and treatment of disease. This information is used to guide the development of new molecular diagnostic products that assess an individual's risk for developing disease later in life, identify a patient's likelihood of responding to a particular drug therapy, assess a patient's risk of disease progression and disease recurrence, and measure disease activity. Myriad's discovery of the breast cancer gene, BRCA1 was universally acclaimed as a monumental achievement: "There is no more exciting story in medical science." Myriad was the subject of scrutiny after it became involved in a lawsuit over its patenting practices, which led to the landmark Supreme Court decision Association for Molecular Pathology v. Myriad Genetics, Inc..
Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population’s health.
Race and health refers to how being identified with a specific race influences health. Race is a complex concept that changes across time and space and that depends on both self-identification and social recognition. In the study of race and health, scientists organize people in racial categories depending on different factors such as: phenotype, ancestry, social identity, genetic makeup and lived experience. “Race” and ethnicity often remain undifferentiated in health research.
In genetics, a genome-wide association study, also known as whole genome association study, is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWASs typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms.
Victor E. Velculescu is a Professor of Oncology and Co-Director of Cancer Biology at The Johns Hopkins University School of Medicine. [1,2]. He is internationally known for his discoveries in genomics and cancer research.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s).
Precision medicine (PM) is a medical model that proposes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to the individual patient. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient’s genetic content or other molecular or cellular analysis. Tools employed in precision medicine can include molecular diagnostics, imaging, and analytics.
Clinicogenomics, also referred to as clinical genomics, is the study of clinical outcomes with genomic data. Genomic factors have a causal effect on clinical data. Clinicogenomics uses the entire genome of a patient in order to diagnose diseases or adjust medications exclusively for that patient. Whole genome testing can detect more mutations and structural anomalies than targeted gene testing. Furthermore, targeted gene testing can only test for the diseases for which the doctor screens, whereas testing the whole genome screens for all diseases with known markers at once.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician’s order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.
Personalized onco-genomics is a growing area of interest in the field of oncology and genomics that is focused on utilizing oncogenomics to personalize cancer treatment for individuals.. Genome instability has been identified as one of the underlying hallmarks of cancer. The genetic diversity of cancer cells promotes multiple other cancer hallmark functions that help them survive in their microenvironment and eventually metastasize. The pronounced genomic heterogeneity of tumors has led researchers to develop an approach that assesses each individual’s cancer to identify targeted therapies that can halt cancer growth. Identification of these “drivers” and corresponding medications used to possibly halt these pathways are becoming increasingly important in the treatment of cancer.
