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Molecular Medicine glossary and taxonomy 
Evolving Terminology for Emerging Technologies
Suggestions? Comments? Questions?
Mary Chitty MSLS 
Last revised September 10, 2019

Genomics is far from being well integrated into clinical settings, but there are some notable examples, and far more being investigated in research settings.  Expect progress to be nonlinear for some time yet.      

Science's review of "The sequence of the human genome" (J. Craig Venter et al 291: 1304-1352 Feb. 16, 2001) concludes that a "paramount challenge awaits: public discussion of this information and its potential for improvement of personal health ... There are two fallacies to be avoided: determinism, the idea that all characteristics of the person are 'hard- wired" by the genome; and reductionism, the view that with complete knowledge of the human genome sequence, it is only a matter of time before our understanding of gene functions and interactions will provide a complete causal description of human variability."

Nature's "Initial sequencing and analysis of the human genome" (International Human Genome Sequencing Consortium, 409 (no. 6822:860-914, 15 Feb. 2001) concludes "Finally it has not escaped our notice [a graceful allusion to Crick and Watson's 1953 Nature paper] that the more we learn about the human genome, the more there is to explore." and ends by quoting T.S. Eliot's Four Quartets [Little Gidding] "We shall not cease from exploration. And the end of all our exploring will be to arrive where we started, and know the place for the first time."  We would be wise to keep these words in mind.

Related glossaries include EthicsBiomarkers   Clinical trials   Drug safety & pharmacovigilance   Molecular diagnostics   
Therapeutic Indications:  cardiovascular, CNS, immunology, infectious diseases & inflammation
  Cancer diagnostics, prognostics & therapeutics   Personalized Medicine & Pharmacogenomics   Informatics: Clinical & Medical Informatics
Technologies  Biomaterials   Microarrays & protein chips   Nanoscience & miniaturization
Biology  Gene definitions   SNPs & other Genetic Variations  
Chemistry term index   Drug discovery term index   Informatics term index   Technologies term index    Biology term index   

See also Basic genetics & genomics with introductory educational resources (some for schoolkids and teachers, but useful for others as well).

Molecular Medicine Tri Conference 2019 March 10-15 • San Francisco, CA Program includes Molecular Diagnostics & Digital Health, Liquid Biopsy & Immuno-Oncology and Bio-IT World West

All of US Research program, NIH   The All of Us Research Program, led by the National Institutes of Health, aims to build one of the largest, most diverse datasets of its kind to help speed up research on many different health conditions. We hope that 1 million or more people across the country will join. Participants will share information about their health, habits, and what it’s like where they live. By looking for patterns in the data, researchers may learn more about the factors that affect our health. The program will last for many years and allow us to study health over time.

behavior change science:
The Science of Behavior Change (SOBC) program seeks to promote basic research on the initiation, personalization and maintenance of behavior change. The SOBC Program aims to implement a mechanisms-focused, experimental medicine approach to behavior change research and to develop the tools required to implement such an approach. The experimental medicine approach involves: identifying an intervention target, developing assays (measures) to permit verification of the target, engaging the target through experimentation or intervention, and testing the degree to which target engagement produces the desired behavior change.  NIH Common Fund

behavioral genetics:

behavior genomics:  The probabilistic rather than deterministic influence of genes on behavior means that some of the ethical specters raised by the advent of behavioral genomics probably have little substance. ... For example, it has sometimes been suggested that geneticization is likely to increase the stigma of mental disorders. To the contrary, far from increasing the stigma, advances in genetics have the opposite effect. As a case in point, it is now perfectly acceptable for an ex- president of the United States and his family to acknowledge that he has Alzheimer's disease, a disorder for which much progress has been made in understanding its basis at a molecular level. In the recent past this might have been called "going senile" and would have been seen as somehow morally reprehensible. We predict that this is the start of a trend and that identifying genes involved in behavioral disorders will do much to improve public perception and tolerance of  behavioral disorders.  Peter McGuffin "Toward Behavioral Genomics" Science 291 (5507): 1232- 1249 Feb. 16, 2001 Related terms: behavioral genetics; Diagnostics & genetic testing "designer babies"

channelopathy: Wikipedia  includes list of examples.  Related term: Pharmaceutical biology ion channels

chemotherapy: Treatment with anticancer drugs  Synonyms: Drug treatment (drug therapy), medication therapy, pharmacotherapeutics, pharmacotherapy  Genetics Home Reference, National Library of Medicine, NIH 

Often refers to cancer treatments, but is also used more generally for drug therapy, particularly antimicrobial drugs.

chronome: Derived from chronos (time), nomos (rule, law) and in the case of biological chronomes, chromosome, describes features in time, just as cells characterize the spatial organization of life. The chronome complements the genome (derived from gene and chromosome). The chronome consists of 1) a partly genetic, partly developmental, partly environmentally influenced or synchronized spectrum of rhythms; 2) stochastic or deterministic chaos; 3) trends with growth, development, maturation and aging in health and/ or trends with an elevation of disease risk, illness and treatment in disease; and 4) unresolved variability. The chronome is genetically coded: it is environmentally synchronized by cycles of the socio- ecologic habitat niche and it is influenced by the dynamics of the interplanetary magnetic field. The chronome constituents, the chrones, algorithmically formulated endpoints, are inferentially statistically validated and resolved by the computer. Chronomes and their chrones 1) quantify normalcy, allowing an individualized positive health quantification; 2) assess, by their alterations, the earliest abnormality, including the quantification of an elevated risk of developing one (or several) disease(s), chronorisk, by the alteration of one or several chrones; and 3) provide, by the study of underlying mechanisms, a rational basis in the search for measures aimed at the prevention of any deterioration in properly timed, mutually beneficial environmental- organismic interactions. Franz Halberg et. al "The Story Behind: Chronome/ chrone" Neuroendocrinology Letters 20: 101 1999

Gubin D, Halberg F. et. al, "The human blood pressure chronome: a biological gauge of aging" In Vivo 11 (6): 485- 494, Nov- Dec. 1997 

chronomics: Technology allows the monitoring of ever denser and longer serial biological and physical environmental data. This in turn allows the recognition of time structures, chronomes, including, with an ever broader spectrum of rhythms, also deterministic and other chaos and trends. Chronomics thus resolves the otherwise impenetrable "normal range" of physiological variation and leads to new, dynamic maps of normalcy and health in all fields of human endeavor, including, with health care, physics, chemistry, biology, and even sociology and economics. [F. Halberg et. al. "Essays on chronomics spawned by transdisciplinary chronobiology. Witness in time: Earl Elmer Bakken" Neuroendocrinology Letters 22 (5): 359- 384 Oct. 2001  Narrower terms: bacterial chronomics, cardio-chronomics

chronotherapy: The adaptation of the administration of drugs to circadian rhythms. The concept is based on the response of biological functions to time-related events, such as the low point in epinephrine levels between 10 p.m. and 4 a.m. or the elevated histamine levels between midnight and 4 a.m. The treatment is aimed at supporting normal rhythms or modifying therapy based on known variations in body rhythms. While chronotherapy is commonly used in cancer chemotherapy, it is not restricted to cancer therapy or to chemotherapy. MeSH, 1997  

clinical endpoint: Biomarkers  

clinical proteomics: Clinical Proteomics encompasses all aspects of translational proteomics. Special emphasis will be placed on the application of proteomic technology to all aspects of clinical research and molecular medicine.  BMC Clinical Proteomics

Clinical proteomics aims to discovery proteins with medical relevance said Alan Sachs, a director of R&D at Merck. Such discoveries can be defined broadly as those that identify a potential target for pharmaceutical development, a marker(s) for disease diagnosis or staging and risk assessment, both for medical and environmental studies. (Note that there is a difference between developing biological insight and identifying clinically important diagnostic and prognostic protein- based assays.) Defining the Mandate of Proteomics in the Post- Genomics Era, Board on International Scientific Organizations, National Academy of Sciences, 2002    Related terms: molecular medicine, translational medicine

cogniceuticals: Drugs that work on 'knowing' - memory, learning, attention. They are 'the fastest-growing neuro-pharmaceutical market' and are set to be so for several decades, unfolding a 'neurosociety' in which functions of the human mind are protected and then enhanced in earnest.  John Hind, Observer, July 24, 2005,11913,1534827,00.html    Related terms: neuroceuticals, neuropharmaceuticals

combination therapy: or polytherapy is therapy that uses more than one medication or modality (versus monotherapy, which is any therapy taken alone). Typically, these terms refer to using multiple therapies to treat a single disease, and often all the therapies are pharmaceutical (although it can also involve non-medical therapy, such as the combination of medications and talk therapy to treat depression). 'Pharmaceutical' combination therapy may be achieved by prescribing/administering separate drugs, or, where available, dosage forms that contain more than one active ingredient (such as fixed-dose combinations). Polypharmacy is a related term, referring to the use of multiple medications (without regard to whether they are for the same or separate conditions/diseases). Sometimes "polymedicine" is used to refer to pharmaceutical combination therapy. Most of these kinds of terms lack a universally consistent definition, so caution and clarification are often advisable. Wikipedia accessed 2018 Oct 22

cryomedicine, cryotherapy: Unfortunately the “Cryomedicine”, “cryosurgery” and “cryotherapy” terms have not got any substantial definition expressing their scientific foundations. Today the “Cryomedicine” term incorporates the whole complex of physical methods of treatment based on the principle of heat derivation through action of liquid, rigid and gaseous working mediums. Namely, from wiping with water to ultralow temperatures action. Lack of precise definitions of the cryotherapy role, place and significance in medical practice, rehabilitation and sanitation technologies makes possible numerous ignorant, speculative and mutually executive statements to appear among supporters and antagonists of cryomedicine. Doctor Chernyshev I.S, Extreme Cryotherapy Position in Complex Treatment of Psoriasis and Other Chronic Dermatosis, “MED- KRYONIKA” Medical Centre, Moscow 

Related terms: antifreeze proteins: Protein categories;  cryobiology: Cell biology cryochemotherapy: Cancer;   cryoelectron microscopy: Microscopy; cryoelectron tomography: Molecular Imaging; cryogenic probe NMR & X-ray crystallography 

cryosurgery (cryotherapy) is the use of extreme cold in surgery to destroy abnormal or diseased tissue;[1] thus, it is the surgical application of cryoablation. The term comes from the Greek words cryo (κρύο) ("icy cold") and surgery (cheirourgiki – χειρουργική) meaning "hand work" or "handiwork". Cryosurgery has been historically used to treat a number of diseases and disorders, especially a variety of benign and malignant skin conditions.[2]  Wikipedia accessed 2018 Oct 22

determinism (genetic): Philosophical doctrine that human action is not free but determined by external forces. Oxford English Dictionary

There has already been much debate about nature vs. nurture, and we clearly still have much to learn about the interplay among various influences.  The relevance of chaos theory and complexity seem likely to become increasingly clear. Note the reference to determinism in the second paragraph of this glossary.

One of  the more useful metaphors I've found is weather prediction. We are better now at predicting and reporting on hurricanes than we were 100 years ago, but are far from being able to control storms, or insure a sunny day when planning events.  We now have building codes for earthquake and hurricane prone areas (but can't predict earthquakes) and continue to build on flood plains and fragile barrier islands.  

disease etiology:   Disease is a fluid concept influenced by societal and cultural attitudes that change with time and in response to new scientific and medical discoveries. Historically, doctors defined a disease according to a cluster of symptoms. As their clinical descriptions became more sophisticated, they started to classify diseases into separate groups, and from this medical taxonomy came new insights into disease etiology. Larissa K. F. Temple, Robin S. McLeod, Steven Gallinger, James G. Wright ESSAYS ON SCIENCE AND SOCIETY: Defining Disease in the Genomics Era Science 3 August 2001: Vol. 293. no. 5531, pp. 807 - 808 DOI: 10.1126/science.1062938 

disease expression: When a disease genotype is manifested in the phenotype

disease interventions: Clinical trials: interventions Related terms: "good genes", "bad genes"; environmental factors  

disease management: The somewhat graceless term the health care industry uses to describe efforts to monitor the medical problems of chronically ill patients while helping them stick to their treatment plans.  New Model for Disease Management, McKinsey Quarterly, No. 4, 2001   

disease phenotypes: Disease related tissues, which now seem very similar (even to pathologists) may be quite distinguishable at the molecular level. Gene and protein expression analysis and interpretation studies, particularly at the whole genome level are just beginning to produce intriguing results, and the National Cancer Institute (US) and other places are working on comparisons of gene expression in "normal" and diseased tissues.  Improvements in technology are needed.  Higher throughput, greater reliability and reproducibility and more automation are among the challenges. Greater knowledge of population genetics and population genomics should also be useful. 

diseases: The human genome sequence will dramatically alter how we define, prevent, and treat disease. As more and more genetic variations among individuals are discovered, there will be a rush to label many of these variations as disease- associated. We need to define the term disease so that it incorporates our expanding genetic knowledge, taking into account the possible risks and adverse consequences associated with certain genetic variations, while acknowledging that a definition of disease cannot be based solely on one genetic abnormality. Disease is a fluid concept influenced by societal and cultural attitudes that change with time and in response to new scientific and medical discoveries. Historically, doctors defined a disease according to a cluster of symptoms. As their clinical descriptions became more sophisticated, they started to classify diseases into separate groups, and from this medical taxonomy came new insights into disease etiology. K Larissa et. al. "Defining Disease in the Genomics Era"  Science 293 (5531): 807- 808, Aug. 3, 2001 

Collections of symptoms and signs (phenotypes) that appear to be similar … Similar clinical phenotypes may have very different underlying mechanisms. As genetic capabilities increase, we will have additional tools to subdivide disease designations that are clinically identical. Allen D. Roses “Pharmacogenetics and future drug development and delivery” Lancet 355 (9212):1358- 1361 Apr 15, 2000  Related terms: diagnosis, disease phenotypes

Patient and disease related resources:
Patient resources,   Molecular diagnostics, genomic & genetic testing

diseasome: Recently, Goh et al. (1) constructed a “diseasome network in which two diseases are linked to each other if they share at least one gene, in which mutations are associated with both diseases. In the resulting network, related disease families cluster tightly together, thus phenotypically defining functional modules. Importantly, for the first time this study applied concepts from network biology to human diseases, thus opening the door for discovering causal relationships between dysregulated networks and resulting ailments. PNAS vol. 105 no. 29: 9849–9850 July 16 2008 Networking metabolites and diseases  Pascal Braun*,,Edward Rietman*,§,Marc Vidal* 
The human disease network Kwang-Il Goh *   § , Michael E. Cusick    ,David Valle  Barton Childs  Marc Vidal    **, Albert-László Barabási * PNAS vol. 104 no. 21 8685–8690 May 22 2007

drug: Regulatory Narrower term: genomic drugs  

drug interactions: Examples of drug interaction terms include adverse drug interaction, drug- drug interaction, drug- laboratory interaction, drug- food interaction, etc. Drug interaction is defined as, "An action of a drug on the effectiveness or toxicity of another drug". .. Due to non- uniform usage of these terms, it is sometimes difficult to compare various studies and derive incidence rates, etc. for ADRs, and Drug Interactions   Saeed A Khan, "Drug Interaction or Adverse Drug Reaction? Confusing Terms", British Medical Journal 10 July, 1998   Related terms: Drug safety adverse drug event ADE, adverse drug reaction ADR

drug utilization research: was defined by WHO in 1977 as «the marketing, distribution, prescription, and use of drugs in a society, with special emphasis on the resulting medical, social and economic consequences». Since then, a number of other terms have come into use and it is important to understand the interrelationships of the different domains… Drug utilization research may also be divided into descriptive and analytical studies. The emphasis of the former has been to describe patterns of drug utilization and to identify problems deserving more detailed studies. Analytical studies try to link data on drug utilization to figures on morbidity, outcome of treatment and quality of care with the ultimate goal of assessing whether drug therapy is rational or not.  … Drug utilization research is thus an essential part of pharmacoepidemiology as it describes the extent, nature and determinants of drug exposure. Over time, the distinction between these two terms has become less sharp, and they are sometimes used interchangeably. However, while drug utilization studies often employ various sources of information that focus on drugs (e.g. aggregate data from wholesale and prescription registers) the term epidemiology implies defined populations in which drug use can be expressed in terms of incidence and prevalence … Drug utilization research also provides insight into the efficiency of drug use, i.e. whether a certain drug therapy provides value for money and the results of such research can be used to help to set priorities for the rational allocation of health care budgets. Introduction to drug utilization research, WHO World Health Organization 2003

epidemiology: the study and analysis of the distribution (who, when, and where) and determinants of health and disease conditions in defined populations. …Major areas of epidemiological study include disease causation, transmissionoutbreak investigation, disease surveillanceforensic epidemiologyoccupational epidemiologyscreeningbiomonitoring, and comparisons of treatment effects such as in clinical trials. Wikipedia accessed 2018 Nov 5  Related term: Clinical informatics population health

FDA draft guidelines - multiplex tests: Regulatory
Primarily considers microarrays, nucleic acid arrays, but principles apply to protein arrays and tissue arrays.

environmental factors: May include chemical, dietary factors, infectious agents, physical and social factors. Related term public health

epidemiology: the study of the distribution and determinants of health-related states or events (including disease), and the application of this study to the control of diseases and other health problems. Various methods can be used to carry out epidemiological investigations: surveillance and descriptive studies can be used to study distribution; analytical studies are used to study determinants.  World Health Organization 

the study and analysis of the distribution (who, when, and where) and determinants of health and disease conditions in defined populations. It is the cornerstone of public health, and shapes policy decisions and evidence-based practice by identifying risk factors for disease and targets for preventive healthcare. Epidemiologists help with study design, collection, and statistical analysis of data, amend interpretation and dissemination of results (including peer review and occasional systematic review … Major areas of epidemiological study include disease causation, transmissionoutbreak investigation, disease surveillanceforensic epidemiologyoccupational epidemiologyscreeningbiomonitoring, and comparisons of treatment effects such as in clinical trials. Wikipedia accessed 2018 Nov 8   Related terms: public health, environmental factors; Narrower terms: genomic epidemiology, human genome epidemiology, molecular epidemiology 

experimental medicine: The use of innovative measurements, models and designs in studying human subjects for establishing proof of mechanism and concept of new drugs, for exploring the potential for market differentiation for successful drug candidates, and for efficiently terminating the development of unsuccessful ones. Bruce H. Littman and Stephen A. Williams, The ultimate model organism: progress in experimental medicine, Nature Reviews Drug Discovery, 4(8): 631- 638 2005

functional foods:  "[F]oods and beverages with claimed health benefits based on scientific evidence". Health claims need to be substantiated scientifically. The future of functional foods will heavily rely on proven efficacy in well- controlled intervention studies with human volunteers. H Verhagen et. al, Assessment of the efficacy of functional food ingredients - introducing the concept "kinetics of biomarkers" Mutation Research 551(1-2): 65- 78, July 13, 2004 Related terms: nutrigenomics  

gene therapy: Biologics

genetic determinism: The theory that human CHARACTER and BEHAVIOR are shaped by the GENES that comprise the individual's GENOTYPE rather than by CULTURE; ENVIRONMENT; and individual choice. MeSH 2003 Was "behavioral genetics"

genetics: Refers to the study of heredity, gene and genetic material. However, genetics is also a term used in contrast to genomics because of its traditionally lower- throughput, smaller- scale emphasis on single genes, rather than on many genes simultaneously as in genomics. CHA Cambridge Healthtech Advisors, Clinical Genomics: The Impact of Genomics on Clinical Trials and Medical Practice report, 2004

Clearly defined terminology should form the basis for informative discussions so that the word ‘genetics’ is not demonized.  For example, tests that are specific to disease genes can help diagnose disease, determine the carrier status of an individual or predict the occurrence of disease. These are quite distinct from profiles ... which provide information on how a medicine will be metabolized in an individual. … Language needs to be more precise so that there can be clarity, especially for public policy debates.  Allen D. Roses “Pharmacogenetics and the practice of medicine” Nature 405: 857- 865 June 15 2000   Related terms: Genetic testing "good genes" "bad genes"", predisposition, susceptibility, public health,  heterozygous, homozygous  Narrower term cytogenetics

genotypic prevention: See under phenotypic prevention

global health: Common Fund's Global Health program supports biomedical research and training in low and middle-income countries across three continents and focuses on a wide range of chronic, non-communicable diseases such as cardiovascular disease, maternal-child health, mental health, emergency medicine, and low birth weights; as well as on infectious diseases like HIV/AIDS and tuberculosis.

global health inequities: An open licensing approach:  Amy Kapczynski, Samantha Chaifetz, Zachary Katz, and Yochai Benkler, San Francisco, CA 

glycogerontology:  Most of the proteins produced by the human body contain sugar chains, whose importance as biosignals for multi- cellular organisms was revealed by the recent development of the new field of glycobiology. Since sugar chains are formed as secondary gene products by the concerted action of glycosyltransferases, the structures of sugar chains are less strictly regulated than proteins. Accordingly, most of the biosignals associated with sugar chains are not essential for the maintenance of life itself, but are necessary to maintain the ordered social life of cells constructing multi- cellular organisms. Hence, investigation of structural changes of sugar chains that is caused by aging is expected to produce quite a lot of useful information pertaining to the elucidation of diseases induced by aging. A.  Kobata, Glycobiology in the field of aging research -- introduction to glycogerontology, Biochimie. 85 (1-2): 13- 24, Jan- Feb 2003

health disparities: The first attempt at an official definition for "health disparities" was developed in September 1999, in response to a White House initiative. The National Institutes of Health (NIH), under the direction of then-director Dr. Harold Varmus, convened an NIH-wide working group, charged with developing a strategic plan for reducing health disparities. That group developed the first NIH definition of "health disparities:"  “Health disparities are differences in the incidence, prevalence, mortality, and burden of diseases and other adverse health conditions that exist among specific population groups in the United States.”

In 2000, United States Public Law 106-525, also known as the "Minority Health and Health Disparities Research and Education Act," which authorized the National Center for Minority Health and Health Disparities, provided a legal definition of health disparities: “A population is a health disparity population if there is a significant disparity in the overall rate of disease incidence, prevalence, morbidity, mortality or survival rates in the population as compared to the health status of the general population.” Minority Health and Health Disparities Research and Education Act United States Public Law 106-525 (2000), p. 2498 Center for the Elimination of Minority Health Disparities  Taken from National Cancer Institute website (  Narrower term: Cancer cancer health disparities

human gene transfer: the process of transferring genetic material (DNA or RNA) into a person. This experimental technique is being studied to see whether it could treat certain health problems by either compensating for defective genes, prompting the body to make a potentially therapeutic substance, or triggering the immune system to fight disease. This type of experimentation is sometimes called "gene therapy" research.   NIH Review Process for Human Gene Transfer  Trials   Review notice   Related term: gene therapy

human genome epidemiology:
An evolving field of inquiry that uses systematic applications of epidemiologic methods and approaches in population based studies of the impact of human genetic variation on health and disease. Human genome epidemiology represents the intersection between genetic epidemiology and molecular epidemiology. The spectrum of topics addressed in human genome epidemiology range from basic to applied population based research on discovered human genes. HuGE Net, Centers for Disease Control and Prevention, US

human Microbiome: While the Human Microbiome Project, MetaHIT and other huge studies of human microbiota, have garnered a lot of attention over that past few years, the microbiome space has literally exploded in terms of both basic and applied biomedical research. This report focuses on biomedical aspects of research, development, and commercial endeavors in the human microbiome space. It includes essential background information, evolution of the field, advances in basic research, events in the emerging commercial market, deal activity, interviews with experts, and trends in microbiome research and commerce. Insight Pharma Reports Human Microbiome: Advancing New Frontiers in a Rapidly Emerging Market    2016

Medbiquitous Consortium: Technology standards based on XML and webservices. 

medical errors - reducing: Background Brief: Reducing Medical Errors, Kaiser Permanente, 2006 

medical resequencing: Key parts of suspect genes are sequenced and compared between patients and controls to identify genetic variations that may contribute to disease. Richard Gibbs, "Deeper into the genome" Nature 7063:1233- 1234, 27 Oct. 2005 

microbiome based precision medicine  using the microbiome as a tool for generating personalized diagnostics and therapeutics  2019  March 14-15 San Francisco The microbiome R&D is an area of science that is continuing to prove its importance. A PubMed search on the term “human microbiome” yielded 300 citations in 2003, 4,498 citations in 2013, and 38,318 citations in 2018. Basic and applied biomedical research from the Human Microbiome Project and other independent studies prove that a disruption of a stable microbiome ecosystem results in dysbiosis. This imbalance leads to chronic disease and health conditions like inflammation, metabolic disorders, gut disorders, obesity, type 2 diabetes, autoimmune disorders, inflammatory bowel disease, neurodevelopmental disorders and more. There is great promise in correlating the microbiome compositions with these diseases and using the microbiome as a tool for therapeutic, diagnostic and product development. 

Molecular analysis technologies for cancer Innovative Molelcular Analysis technologies, NCI

molecular anatomy:

molecular epidemiology: The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples. MeSH, 1994

Looking at epidemiology from a genetic and biochemical viewpoint. Narrower term: genomic epidemiology

molecular medicine:   Molecular Medicine Tri Conference 2020 March 1-4 • San Francisco, CA Program

Expert Reviews in Molecular Medicine coverage includes genetic testing vaccines pathogenesis epidemiology genomics gene therapy drug design diagnostics and techniques. Expert Reviews in Molecular Medicine, Cambridge Univ. Press 

The Journal of Molecular Medicine publishes reports describing major advances in the understanding, prevention, diagnosis, or treatment of human disease through the application of molecular biology and gene technology, a research discipline that has become known as molecular medicine.. Journal of Molecular Medicine, Springer, Aims and Scope

Recent advances in molecular and cell biology have enormous potential for medical research and practice.  Initially they were most successfully exploited for determining the causes of genetic diseases and how to control them.  However, it is now clear that recombinant DNA technology is finding applications in almost every branch of medical practice.  It is revolutionising cancer research, offers new approaches to vaccines, has spawned a biotechnology industry that is already producing a wide range of diagnostic and therapeutic agents and, in the longer term, promises to play a major role in clarifying the causes of some of the unsolved mysteries of modern medicine: heart disease, hypertension, major psychiatric illness, rheumatic disease and many others.  It should also help us gain insights into broader aspects of human biology, including development, ageing and evolution.  Wetherall Institute of Molecular Medicine, Univ. of Oxford, UK    Related terms: clinical proteomics, translational medicine

molecular therapeutics: The goal of the Molecular Therapeutics Program is to foster the exchange of ideas, cooperation, and collaboration leading to translation of basic research into the clinic, and to use basic research to answer clinical questions related to improving strategies for the treatment of cancer.  The Program provides a forum for discussion of new developments in cellular and molecular biology, with focus on cell cycle regulation, signal transduction, apoptosis and differentiation, as well as development of potentially novel therapeutic strategies within these foci. Dartmouth Hitchcock Norris Cancer Center

morbidity - compressing: Ultimately only premature mortality can be reduced (in various ways such as by stopping smoking, wearing seatbelts and helmets). With a number of (first world) countries having rapidly aging populations we are just beginning to see some of the tradeoffs involved in extending longevity for a number of people.  

mortality - reducing: In the long run mortality is going to be 100%, and every family has a history of it.  Compressing morbidity may be a more realistic goal.  Reducing premature mortality (by improving rates of seat belt wearing, reducing smoking and alcohol use and gun control) is a more sustainable goal.  

nanomedicine: The goal of the Common Fund's Nanomedicine program is to determine how cellular machines operate at the nanoscale level and then use these design principles to develop and engineer new technologies and devices for repairing tissue or preventing and curing disease. Nanomedicine, NIH Common  Fund 

The monitoring, repair, construction and control of human biological systems at the molecular level, using engineered nanodevices and nanostructures. Robert A. Freitas, Nanomedicine, Foresight Institute, 1998- 2002    

Nanomedicine glossary:

National Institute of General Medical Sciences NIGMS: Part of NIH, supports biomedical research not targeted to specific diseases or disorders. Divisions of Cell Biology and Biophysics; Genetics and Developmental Biology; and Pharmacology, Physiology, and Biological Chemistry support research  

normal: That we can walk around with all of this stuff. It's almost liberating—the fact that there is no perfect genome—that all of us are made up of deletions and structural changes and copy number variations.  It's amazing that any of us are “normal”. And maybe none of us really are—and that's the beauty of it! Gitschier J (2008) Stable in a Genome of Instability: An Interview with Evan Eichler. PLoS Genet 4(7): e1000124. doi:10.1371/journal.pgen.1000124

Defining "normal" is a major problem," stated Dr. [Julio] Celis. As many researchers know, the pathology of samples can be open to interpretation, and robust parameters must be delineated and adhered to when defining normal versus various stages of pathology. Defining the Mandate of Proteomics in the Post- Genomics Era, Board on International Scientific Organizations, National Academy of Sciences, 2002  Related terms: Microarrays normality, normalization

nutraceuticals: Foods with specific health or medical benefits. Differentiate from supplements, which supplies missing nutrients. Examples include folic acid (to prevent birth defects) or pectin (to lower cholesterol) and fiber (to reduce the risk of color cancer). Sometimes spelled nutriceutical.

nutrigenomics: a branch of nutritional genomics and is the study of the effects of foods and food constituents on gene expression.[1] This means that nutrigenomics is research focusing on identifying and understanding molecular-level interaction between nutrients and other dietary bioactives with the genome.[2] Nutrigenomics has also been described by the influence of genetic variation on nutrition, by correlating gene expression or SNPs with a nutrient's absorptionmetabolism, elimination or biological effects. Wikipedia accessed 2018 Feb 1

nutritional genomics: Has been used for decades for certain monogenic diseases; however, the challenge is to implement a similar concept for common multifactorial disorders and to develop tools to detect genetic predisposition and to prevent common disorders decades before their manifestation. The preliminary results involving gene- diet interactions for cardiovascular diseases and cancer are promising, but mostly inconclusive. Success in this area will require the integration of different disciplines and investigators working on large population studies designed to adequately investigate gene- environment interactions. JM Ordovas, D Corella, Nutritional genomics. Annual Review Genomics Human Genetics 5: 71-118, 2004   Related terms: agricultural genomics, food genomics, plant genomics

personalized medicine:  As defined by the President’s Council on Advisors on Science and Technology, “Personalized Medicine” refers to the tailoring of medical treatment to the individual characteristics of each patient…to classify individuals into subpopulations that differ in their susceptibility to a particular disease or their response to a specific treatment.  Preventative or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not. About the Personalized Medicine Coalition

The increased emphasis on personalized therapy has affected the entire process of drug discovery, development and marketing. Pharmaceutical companies must adjust their strategies, starting from target identification to validation, clinical trials, approval processes, and marketing in order to fit into the new concept. Successful collaboration with diagnostics partners has become a cornerstone in the efforts to bring to the market tailored and targeted therapies, with companion tests helping to match the right drug to the right patient.  more in Pharmacogenomics

phenotypic prevention: Authors participating in the renewed discussion of germ-line gene therapy have begun conflating two senses of the term "prevention," which I distinguish as "phenotypic prevention" and "genotypic prevention." Phenotypic prevention describes medical efforts to forestall the clinical manifestation of a genetic disease in an at-risk patient, like newborn screening and dietary prophylaxis for phenylketonuria. Genotypic prevention, by contrast, describes efforts to avoid the transmission of particular genotypes to the next generation, like selective termination following intrauterine diagnosis. Genotypic prevention is either performed on behalf of a prospective parent (or two) as a reproductive risk reduction strategy, or as a public health intervention to reduce the incidence of a disease in the larger population. Conflating phenotypic and genotypic prevention in discussions of germ-line gene therapy is dangerous, because it blurs the line (well-established in clinical genetics) between medical interventions appropriate to prescribe to individuals and families, and reproductive choices that should be theirs alone to make.  “Prevention” and the Goals of Genetic Medicine Eric T. Juengst, Human Gene Therapy 1995 6:12, 1595-1605     Related terms environmental factors, molecular epidemiology, public health. 

physiogenomics, physiome, physiomics: -Omes & -omics
pleiotropy tests: See under regulatory therapies

precision medicine: A more targeted approach to disease – is already becoming a reality in cancer, where molecular diagnosis is leading to better defined, individualized treatments with improved outcomes. Precision medicine is also the basis for planning large-cohort studies, using genomics and phenotyping (physiological and behavioral characteristics) to improve diagnostics and therapeutics across medicine.  The idea is to integrate clinical data with other patient information to uncover disease subtypes and improve the accuracy with which patients are categorized and treated. Brain disorders? Precisely: Precision medicine comes to psychiatry. Thomas R. Insel and Bruce N. Cuthbert, Science 1 May 2015 Vol. 348 no. 6234 pp. 499-500 
DOI: 10.1126/science.aab2358

Many believe that personalized medicine technologies, such as next-generation sequencing, have propelled us to the tipping point of a new era in healthcare - precision medicine. Stakeholders are now faced with the perplexing economic and regulatory issues of balancing the promise of new genome-driven medicines with the associated trade-offs of longer and higher development risk for Rx and CDx innovators, increased evidence standards for regulators, reimbursement concerns for patients, and unclear value for payers.   More in Pharmacogenomics & Personalized Medicine

public health genomics:
has been defined as The responsible and effective translation of genome-based knowledge for the benefit of population health. (Bellagio workshop, April 2005) PHG Foundation, UK

A multidisciplinary field concerned with the effective and responsible translation of genome-based knowledge and technologies to improve population health. Public health genomics uses population-based data on genetic variation and gene-environment interactions to develop evidence-based tools for improving health and preventing disease. National Office of Public Health Genomics, CDC 

There is much talk of  the world as a global village these days. Nowhere is that more true than in public health.  It is not just third world countries that need to be concerned about vaccines, herd immunity and drug resistance. Early intervention and epidemiological investigation of environmental factors hold promise for better understanding the complex interplay of variables in individual and public health. Related terms:  morbidity (compressing), mortality (reducing), phenotypic prevention.  

Genomics and World Health, World Health Organization, 2002 
Public Health Terminology, Oregon Health Authority
Genetics and Public Health in the 21st century
, CDC Centers for Disease Control and Prevention, US   The term "public health genetics" seems to be used primarily in the United States, while "community genetics" is more widely used in Europe.
Genomic Competencies for the Public Health Workforce
, CDC Centers for Disease Control and Prevention, US, 2001     Information about the role of genes in health and disease is evolving rapidly because of the mapping of all human genes by the Human Genome Project. The number and types of genetic tests and services now available commercially are growing exponentially, and public health workers are increasingly aware of the potential role of genetic information in preventing common diseases. Everyone involved in public health should become aware of these advances and begin to incorporate genomic competencies into their public health specialties
Public Health Genetics
, Cambridge UK   News and information about advances in genetics and their impact on public health and the prevention of disease.

Other patient and disease related resources: See Cancer Diagnostics, Patient resources

quantified self:  [Mike] Snyder made waves several years ago when he took the “quantified self” concept to new frontiers, measuring close to as much about himself as possible at that time. Metabolism, blood chemistry, activity — hundreds and hundreds of data points a day tracked the minutiae of his life and yielded some interesting findings. Now he is widening the scope of the research.  Snyder’s lab is working with 100 healthy volunteers who agreed to provide even more measurements, including a deep dive into their genome sequences. They also gather data continually with wearables and smart phones, including activity and metabolism. In addition, Snyder and his team are looking at as many molecules as they can in blood and urine: the transcriptome (all messenger RNA), the proteome (all proteins), the metabolome (metabolic compounds and by-products), antibody profiles and so on. Finally, they’re monitoring the microbiome at five sites in and on the body.

Snyder made waves several years ago when he took the “quantified self” concept to new frontiers, measuring close to as much about himself as possible at that time. Metabolism, blood chemistry, activity — hundreds and hundreds of data points a day tracked the minutiae of his life and yielded some interesting findings. Now he is widening the scope of the research. Snyder’s lab is working with 100 healthy volunteers who agreed to provide even more measurements, including a deep dive into their genome sequences. They also gather data continually with wearables and smart phones, including activity and metabolism. In addition, Snyder and his team are looking at as many molecules as they can in blood and urine: the transcriptome (all messenger RNA), the proteome (all proteins), the metabolome (metabolic compounds and by-products), antibody profiles and so on. Finally, they’re monitoring the microbiome at five sites in and on the body. (all messenger RNA), the proteome (all proteins), the metabolome (metabolic compounds and by-products), antibody profiles and so on. Finally, they’re monitoring the microbiome at five sites in and on the body.  Mike Snyder interview, HUGO

rare diseases: Drug Discovery for Rare Diseases Exploring New Technologies, Targets and Drug Modalities MARCH 28, 2019 Cambridge MA Rare diseases, or diseases that affect only a small percentage of the population, have grown in significance and prominence in recent years. According to the National Institutes of Health, there are nearly 7000 rare diseases and more than 25 million Americans who are affected. Approximately 80% of these rare diseases are genetic in origin.  

regenerative medicine: A field of medicine concerned with developing and using strategies aimed at repair or replacement of damaged, diseased, or metabolically deficient organs, tissues, and cells via TISSUE ENGINEERING; CELL TRANSPLANTATION; and ARTIFICIAL ORGANS and BIOARTIFICIAL ORGANS and tissues.  MeSH 2004 

Embryonic stem cells are a unique type of cell because they are "pluripotent", that is, they can divide and grow in to any type of adult cell type e.g. heart cells, bone cells, or neurons. They therefore hold great potential in repairing tissue damaged by disease or injury. A recent discovery showed that a type of adult stem cell resembling an embryonic stem cell can be made by using viruses to ferry specific genes in to skin cells that induce these cells to revert to a pluripotent cell state These so called "induced pluripotent stem cells" or iPS cells are just one type of adult stem cell that can be explored for use in cellular therapies.  The Common Fund is supporting the establishment of an NIH Center for Regenerative Medicine (NCRM) to serve as a stem cell resource for the scientific community, providing stem cells, as well as the supporting protocols and standard operating procedures used to derive, culture, and differentiate them in to different cell types. NIH Center for Regenerative Medicine, NIH Common Fund  Related terms: stem cells

syndromics: The present paper describes a multivariate statistical framework for integrating diverse neurotrauma data and reviews the few papers to date that have taken an information-intensive approach for basic neurotrauma research. We argue that these papers can be described as the seminal works of a new field that we call "syndromics", which aim to apply informatics tools to disease models to characterize the full set of mechanistic inter-relationships from multi-scale data. In the future, centralized databases of raw neurotrauma data will enable better syndromic approaches and aid future translational research, leading to more efficient testing regimens and more clinically relevant findings. Syndromics: a bioinformatics approach for neurotrauma research.  Ferguson AR1Stück EDNielson JL  Transl Stroke Res. 2011 Dec;2(4):438-54. doi: 10.1007/s12975-011-0121-1. Epub 2011 Nov 18.

translational medicine:  Recent advances in biological understanding are allowing pharmaceutical companies to begin to develop tailored therapeutics, thereby allowing patients to receive the right drug, at the right dose, and at the right time. However, in order for such treatments to be developed, companies need to be able to better link data from the laboratory to the clinic (bench to bedside). This concept is frequently referred to as translational medicine.  Semantic Web Health Care and Life Sciences SIG Charter, 2008 

the integrated application of innovative pharmacology tools, biomarkers, clinical methods, clinical technologies and study designs to improve disease understanding, confidence in human drug targets and increase confidence in drug candidates, understand the therapeutic index in humans, enhance cost-effective decision making in exploratory development and increase phase II success. What's next in translational medicine? Littman BH, Di Mario L, Plebani M, Marincola FM. What's next in translational medicine? Clin Sci (London) 112 (4): 217- 227, Feb 2007   Related terms: clinical proteomics, molecular medicine, translational research: Research  

translational science: As the biopharma industry faces the challenge of increasing cost of drug development, increasing emphasis is placed on strategies to accelerate clinical development, reduce late-stage attrition and pursue innovation through collaboration. 
Clinical and Translational Science Awards: The CTSA program has focused on the development of infrastructure and resources to facilitate translational research, to promote the training and career development of translational researchers, and to develop innovative methods and technologies to strengthen translational research. 

uncertainty: The condition in which reasonable knowledge regarding risks, benefits, or the future is not available. MeSH 2003

An event or outcome that is not certain but may or may not happen is uncertain. When the uncertainty is quantified on the basis of empirical observations, it is called risk. Bandolier EBM Evidence Based Medicine Glossary

Despite the extensive body of evidence that informs regulatory decisions on pharmaceutical products, significant uncertainties persist, including the underlying variability in human biology, factors associated with the chemistry of a drug, and limitations in the research and clinical trial process itself that might limit the generalizability of results. As a result, regulatory reviewers are consistently required to draw conclusions about a drug's safety and efficacy from imperfect data. Efforts are underway within the drug development community to enhance the evaluation and communication of the benefits and risks associated with pharmaceutical products, aimed at increasing the predictability, transparency, and efficiency of pharmaceutical regulatory decision making. Effectively communicating regulatory decisions necessarily includes explanation of the impact of uncertainty on decision making.This report explores potential analytical and communication approaches and identifies key considerations on their development, evaluation, and incorporation into pharmaceutical benefit- risk assessment throughout the entire drug development lifecycle. Institute of Medicine. Characterizing and Communicating Uncertainty in the Assessment of Benefits and Risks of Pharmaceutical Products: Workshop Summary. Washington, DC: The National Academies Press, 2014.

The shift to a post- Mendelian view of genetics (with variable penetrance and eventually, insights into polygenic diseases) and genomics seems likely to result in more uncertainty, not less, at least for some time.  Related term: Business  risk management

women's health: Yale Women's Health Research at Yale pioneers efforts to narrow the gulf in knowledge about women's health, trains new researchers to continue advancing the science, and translates findings into practice and public policy

world health: In the coming decades, information generated by genomics will have major benefits for the prevention, diagnosis and management of many diseases which have been difficult or impossible to control. At the same time, this new field presents a series of highly complex scientific, economic, social and ethical issues.  Genomics and World Health, WHO, 2002

Molecular Medicine Resources
AMA American Medical Association, Personalized Medicine
Bandolier EBM Evidence Based Medicine Glossary
Centre for Evidence Based Medicine Glossary,  2014  
Cochrane Collaboration, Glossary of Terms in the Cochran Collaboration 2014 
Health Care Terminology Glossary - USA Managed Care Organization
IUPAC Glossary of bioanalytical nomenclature - Part 1: General terminology, body fluids, enzymology, immunology Recommendations 1994 
Nanomedicine glossary,
National Information Center on Health Services Research and Health Care Technology, Glossary of frequently encountered terms in Health Economics

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IUPAC definitions are reprinted with the permission of the International Union of Pure and Applied Chemistry.

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