Genomic Medicine - Science and Technology Committee Contents


ABIAssociation of British Insurers
ABPIAssociation of the British Pharmaceutical Industry
AMRCAssociation of Medical Research Charities
AMSAcademy of Medical Sciences
ASAAdvertising Standards Authority
BERRDepartment for Business, Enterprise and Regulatory Reform
BIABioindustry Association
BISDepartment for Business, Innovation and Skills
BSHGBritish Society for Human Genetics
CESAGENCollaborative Centre of the ESRC Genomics Network
DCTsDirect to Consumer Tests
DoHDepartment of Health
DIUSDepartment for Innovation, Universities and Skills
DTIDepartment of Trade and Industry
EBIEuropean Bioinformatics Institute
EHRElectronic Health Record
ELIXIREuropean Life-science Infrastructure for Biological Information
ESFRIEuropean Strategy Forum on Research Infrastructures
ESRCEconomic and Social Research Council
FDAUS Food and Drug Administration
GAICGenetics and Insurance Committee
GINAGenetic Information Non-discrimination Act
GMCGeneral Medical Council
GWASGenome-wide association study
HGCHuman Genetics Commission
HIVHuman immunodeficiency virus
HTAHealth Technology Assessment
ICOInformation Commissioner's Office
IMGInstitute of Medical Genetics
IMIInnovative Medicines Initiative
IPIntellectual property
IPOIntellectual property Office
JCMGJoint Committee on Medical Genetics
LIMSLaboratory Information Management System
MHRAMedicines Healthcare products Regulatory Agency
MRCMedical Research Council
MSCModernising Scientific Careers
NCBINational Center for Biotechnology Information
NGEDCNational Genetics Education and Development Centre
NGRLNational Genetics Reference Laboratory
NHGRIUS National Human Genome Research Institute
NHSNational Health Service
NICENational Institute for Health and Clinical Excellence
NIHRNational Institute of Health Research
OECDOrganisation for Economic Co-operation and Development
ONOxford Nanopore Technologies
OSCHROffice for Strategic Co-ordination of Health Research
PCTPrimary Care Trust
PHGFPublic Health Genetics Foundation
PMETBPostgraduate Medical Education and Training Board
PPRSPharmaceutical Price Regulation Scheme
RCGPRoyal College of General Practitioners
RCPathRoyal College of Pathologists
RCUKResearch Councils UK
SCGSpecialised Commissioning Group
SGPPHSociety for Genomics Policy and Population Health
SHAStrategic Health Authority
SNPSingle Nucleotide Polymorphism
TSBTechnology Strategy Board
TUCTrades Union Congress
UKGTN   UK Genetic Testing Network
WTWellcome Trust
WTSIWellcome Trust Sanger Institute

BioinformaticsThe application of computers and computational expertise to analyse, visualise, catalogue and interpret large biological datasets in the context of the genome sequences of humans and other species.
BiomarkerA characteristic that can be objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.
Biomedical informaticsThe application of bioinformatics and computational expertise in support of the practice of medicine and the delivery of healthcare.
BiotechnologyThe industrial application of biological processes, particularly DNA technology and genetic engineering.
CarrierA person who has inherited a genetic trait or mutation but does not display the disease. Such a genetic trait can be passed on to successive generations.
ChromosomeA sub-cellular structure made up of tightly coiled DNA which contains many genes.
Clinical researchStudies performed in humans that are intended to increase knowledge about how well a diagnostic test or treatment works in a particular patient population.
Clinical trialsResearch study conducted with patients, usually to evaluate a new treatment or drug.
Clinical utilityThe risks and benefits resulting from using a test.
Clinical validityThe accuracy with which a test identifies or predicts a patient's clinical status.
Complex diseaseA phenotype that results from the actions of multiple genes and their interaction with other factors such as lifestyle and the environment.
Copy number variationThe differing number of copies of a particular DNA sequence in the genomes of different individuals.
CytogeneticsThe study of the relationships between the structure and number of chromosomes and variation in genotype and phenotype.
Diagnostic testA term used to describe particular tests that are able to identify a recognised condition.
DNA(Deoxyribonucleic acid). The chemical that comprises the genetic material of all cellular organisms.
DNA sequencingDetermination of the order of bases in a DNA molecule.
Environmental factorsFactors in the environment that may have an effect on the development of disease, such as chemical or dietary factors.
EpigeneticsThe study of changes in gene function that occur without a change in the DNA sequence.
Expression profileA collection of genetic data, usually generated using microarrays, that describes the extent to which every gene in the genome is switched on or off in a particular tissue sample.
GeneThe basic unit of heredity found in chromosomes. A length of DNA that carries the genetic information necessary for production of a protein.
Gene expressionThe process by which a gene is activated at a particular time and place so that its functional product, or protein, is produced.
Genetic counsellingProviding an assessment of heritable risk factors and information to patients and their relatives concerning the consequences of a disorder, the chance of developing or transmitting it, how to cope with it, and ways in which it can be prevented, treated, and managed.
Genetic epidemiologyStudy of the correlations between phenotypic trends and genetic variation across population groups and the application of the results of such a study.
Genetic predispositionHaving some genetic factor(s) that may make an individual more likely to develop a particular condition than the general population.
Genetic screeningTesting a population group to identify a subset of individuals at high risk for having or transmitting a specific genetic disorder.
Genetic testAn analysis performed on human DNA, RNA, genes and/or chromosomes to detect heritable or acquired genotypes.
GenomeThe unique genetic code or hereditary material of an organism, carried by a set of chromosomes in the nucleus of each cell.
Genomic medicineThe use of genetic information and genomic tools to determine disease risk and predisposition, diagnosis, prognosis, and the selection and prioritisation of therapeutic options.
Genomic profileA collection of genetic information that records an individual's genotype at hundreds of thousands of locations in their genome
GenotypeThe specific genetic makeup of an individual at a particular location in their genome. Sometimes used to indicate the collective genotype at all points in their genome. Although genotypes give rise to the phenotype of an individual, genotypes and phenotypes are not always directly correlated. For example, some genotypes are expressed only under specific environmental conditions.
In vitro(Latin: within the glass) This term refers to experiments performed in an artificial environment like a test tube or culture media.
Locus (plural loci)The specific site on a chromosome at which a particular gene or other DNA landmark is located.
MicroarraySometimes called a gene chip or a DNA chip. A high throughput technology that enables the detection of gene expression levels or the detection of SNPs within the genome.
MutationA change to the nucleotide sequence of the genetic material of an organism.
NucleotideOne of the building blocks of DNA or RNA. There are four nucleotides in DNA: Adenine (A), cytosine (C), guanine (G), and thymine (T). These are the "letters" or "bases" of the genetic code.
PenetranceThe likelihood that a person carrying a particular mutant gene will have an altered phenotype such as a genetic disorder.
PharmacogeneticsThe study of the way in which variation in individual genes affects drug metabolism and responsiveness, and the application of this information into clinical practice.
PharmacogenomicsThe study of the way in which genetic variation across the genome affects drug metabolism and responsiveness, and the application of this information into clinical practice.
PhenotypeThe appearance of an organism based on a combination of genetic traits and environmental factors.
Polygenic traitA trait affected by many genes, with no one gene having a large influence.
Prenatal testProcedure done to determine the presence of disease or defect in a fetus.
ProteinA molecule composed of amino acids linked together in a particular order specified by a gene's DNA sequence. Proteins perform a wide variety of functions including serving as enzymes, structural components or signalling molecules.
Protein expressionThe measurement of the presence and abundance of one or more proteins in a particular cell or tissue.
Ribonucleic acidA chemical that is copied from the DNA on an individual's chromosomes, that carries the genetic information required to produce cellular proteins.
Sensitivity of a clinical The proportion of individuals with a disease phenotype test who test positive.
Single nucleotide polymorphism (SNP) A variation in a DNA sequence that occurs when a single nucleotide in a genome is altered in at least 1 per cent of the population. The human genome contains approximately 10 million SNPs.
Specificity of a clinical test The proportion of individuals without a disease phenotype who test negative.
Stratified medicineThe targeting of healthcare interventions, particularly drug treatments, to well-defined subgroups of patients
Translational researchThe process of using novel laboratory findings to develop clinical applications and practical advances in health care.

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