Biomaterial Database

What is a genetic test, and why does it matter? 1999

D B Paul

Program in Science, Technology and Values, University of Massachusetts, Boston, USA. diane.paul@umb.edu

How the term 'genetic test' is defined, matters for social policy. The past few years have witnessed many efforts to enact legal barriers specifically against genetic discrimination. To the extent that information derived from genetic tests receives special protection, both enthusiasts for genetic medicine and those who stress its perils have an incentive to adopt a broad interpretation of genetic testing. However, the consequences have not always been those anticipated.

UI	MeSH Term	Description	Entries
D007343	Insurance Carriers	Organizations which assume the financial responsibility for the risks of policyholders.	Insurance Providers,Insurers,Carrier, Insurance,Carriers, Insurance,Insurance Carrier,Insurance Provider,Insurer,Provider, Insurance,Providers, Insurance
D007878	Legislation as Topic	Works about the enactment of laws and ordinances and their regulation by official organs of a nation, state, or other legislative organization. It refers also to health-related laws and regulations in general or for which there is no specific descriptor.	Health Legislation,Constitutional Amendments,Health Legislation as Topic,Laws and Statutes,Legislation, Health,Model Legislation,Population Law,Statutes and Laws,Amendment, Constitutional,Amendments, Constitutional,Constitutional Amendment,Law, Population,Laws, Population,Legislation, Model,Population Laws
D010661	Phenylketonurias	A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).	Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
D011287	Prejudice	A preconceived judgment made without factual basis.	Anti-Semitism,Islamophobia,Anti Semitism,Anti-Semitisms,Islamophobias,Prejudices
D011640	Public Policy	A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions.	Social Policy,Affirmative Action,Migration Policy,Population Policy,Social Protection,Action, Affirmative,Migration Policies,Policies, Migration,Policies, Population,Policies, Public,Policies, Social,Policy, Migration,Policy, Population,Policy, Public,Policy, Social,Population Policies,Protection, Social,Public Policies,Social Policies
D003219	Confidentiality	The privacy of information and its protection against unauthorized disclosure.	Patient Data Privacy,Privacy of Patient Data,Privileged Communication,Confidential Information,Secrecy,Communication, Privileged,Communications, Privileged,Data Privacy, Patient,Information, Confidential,Privacy, Patient Data,Privileged Communications
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015997	Neonatal Screening	The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.	Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant
D016045	Human Genome Project	A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.	Genome Project, Human,Human Genome Diversity Project,Human Genome Mapping Project,Genome Projects, Human,Human Genome Projects,Project, Human Genome,Projects, Human Genome