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You are here Biopharmaceutical/ Genomic glossary Homepage/Search >Applications > Molecular Medicine >Genetic testing Molecular
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analyte specific reagents: Drug approvals and clinical trials analytical sensitivity: The proportion of persons with a disease genotype who test positive. [Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Related terms: clinical sensitivity and sensitivity. Labels, Signaling & Detection analytical specificity: The proportion of persons without a disease genotype who test negative. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 200 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Related terms: clinical specificity and specificity Labels, Signaling & Detection But note that IUPAC (in a provisional recommendation) prefers the term "selectivity" instead of specificity, citing the many papers in which the two are used interchangeably. "This is very unfortunate as specificity is considered as an absolute term, and cannot be graded. [IUPAC Analytical Chemistry Division, Commission on General Aspects of Analytical Chemistry Provisional Recommendations "Selectivity in Analytical Chemistry. Recommendations for its use" Feb. 27, 2001] http://www.iupac.org/reports/provisional/abstract01/vessman_300901.html biobanking:
Advances in molecular high-throughput assays for gene expression (DNA/RNA)
signatures have generated the parallel need for well annotated properly
preserved biospecimens. Samples from both diseased and unaffected normal
tissues are often required. Like traditional banks, biobanks are meant to
be used and are most useful when the needs of end-users (researchers) are
considered. Thus, a well managed biobank is a critical prerequisite for
high-quality biological research. Science
of Biobankng Nov 2009 Philadelphia PA biomarkers: Biomarkers cancer diagnostics: Cancer genomics carrier testing: Performed to determine whether an individual carries one copy of an altered gene for a particular recessive disease. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf The [American College of Medical Genetics'] [Sub]Committee [on cystic fibrosis [CF] carrier screening] recommends that CF carrier screening be offered to non- Jewish Caucasians and Ashkenazi Jews, and made available to other ethnic and racial groups who will be informed of their detectability through educational brochures, the informed consent process, and/ or other efficient methods. For example, Asian- Americans and Native- Americans without significant Caucasian admixture should be informed of the rarity of the disease and the very low yield of the test in their respective populations. Testing should be made available to African- Americans, recognizing that only about 50% of at- risk couples will be detected. An educational brochure and a consent form which recites this information as well as a sign- off for those choosing not to be tested after reading these materials is being prepared by the Working Group on Patient Education and Informed Consent. We recommend that preconception testing be encouraged whenever possible, although we recognize that for practical purposes, testing will often occur in the prenatal setting. [Wayne W. Grody et. al. "Laboratory Standards and Guidelines for Population- based Cystic Fibrosis Carrier Screening" Genetics in Medicine 3 (2): 149-154 March/ April 2001] http://www.faseb.org/genetics/acmg/pol-32.htm It will be interesting to see how many people opt for carrier testing, given this recent recommendation. Related terms: molecular genetic testing, preconception testing, prenatal diagnosis clinical sensitivity: The proportion of persons with a disease phenotype who test positive. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Related term: analytical sensitivity. clinical diagnostics: Sessions include HEALTH ECONOMICS AND ADOPTION, ESTABLISHING CLINICAL UTILITY, REIMBURSEMENT TRENDS, STANDARDS DEVELOPMENT TO IMPROVE PERFORMANCE OF TESTS. Clinical adoption of next generation diagnostics Aug 2009 Washington DC clinical specificity: The proportion of persons without a disease phenotype who test negative. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Related term: analytical specificity combination drug/diagnostics, combination products, combination therapies: Drug Discovery & Development companion diagnostics: Assays (a test or measurement) intended to assist physicians in making treatment decisions for their patients. They do so by elucidating the efficacy and/or safety of a specific drug or class or drugs for a targeted patient group or sub-groups. Amgen, Biomarker Toolkit: Companion Diagnostics, 2008 http://www.amgen.com/pdfs/misc/vpk_biomarker_diagnostics.pdf Companion Diagnostics track Molecular Medicine Tri-Conference 2009 Feb San Francisco CA One trend in genetic diagnostics and therapeutics is to become increasingly intertwined. Companion diagnostics identify subsets of patients who would benefit from a specific drug. Google = about 133 Nov. 3, 2004, about 241 Aug. 22, 2005; about 15,500 Nov 10, 2006 Related terms: genetic diagnostics, molecular diagnostics; /synonym? Pharmacogenomics pharmacogenomics computer aided diagnosis CAD: A general term used for a variety of artificial intelligence techniques applied to medical images. CAD methods are being rapidly developed at several academic and industry sites, particularly for large- scale breast, lung, and colon cancer screening studies. X-ray imaging for breast, lung and colon cancer screening are good physical and clinical models for the development of CAD methods, related image database resources, and the development of common metrics and methods for evaluation. For large- scale screening applications CAD methods are an important for: (a) improving the sensitivity of cancer detection, (b) reducing observer variation in image interpretation, (c) increasing the efficiency of reading large image arrays, (d) improving efficiency of screening by identifying suspect lesions or identifying normal images, and (e) facilitating remote reading by experts (e.g., telemammography). Image processing tools are also being developed for temporal analysis of serial images, with the aim of detecting early subtle changes that might not be obvious to the reading physician. Temporal analysis requires additional consensus on the development of reference standards (electronic ground truth), software modules for registration of serial images and related image segmentation. In addition, CAD techniques can improve the specificity of cancer detection by assigning a quantitative estimate of the probability that a detected lesion is benign or malignant. Another promising application of CAD is predicting which cases are most suitable for a particular treatment option. NEW NCI INITIATIVES IN COMPUTER AIDED DIAGNOSIS, Laurence P. Clarke, National Cancer Institute, http://www3.cancer.gov/dip/spieppr.htm Google = about 72,800 May 8, 2003 "designer babies": Steven Pinker, Human Nature and Its Future, 2003 http://www.bioethics.gov/transcripts/march03/session3.html Not as inevitable as many people seem to think. diagnomicsTM: Molecular diagnostic testing that give clinicians information about patients that can be used in making medical decisions. Glossary, Millennium Pharmaceuticals, Inc. http://www.millennium.com/glossary/popup.asp Google = about 107 May 8, 2003; about 609 Apr 6, 2007 diagnosis: Allen Roses, worldwide director of genetics for Glaxo Wellcome [now Glaxo SmithKline] notes that “precise diagnoses leading to universal specific treatments are, for many illnesses, myths... for many diseases there is no accurate, single diagnostic test” . [A.D. Roses “Pharmacogenetics and future drug development and delivery” Lancet 355 (9212):1358-61 Apr 15, 2000] Related terms: clinical genomics, diagnostics, disease intervention, diseases, prognosis diagnostics: For diagnostics, tests based on genes (mutations, SNPs), gene expression profiles and protein biomarkers are being added to the more standard diagnostics of clinical chemistry or immunoassays. CHI’s Drug Discovery and Development Map http://www.healthtech.com/drugdiscoverymap.asp Diagnostics almost always precede therapeutics, and there are many unmet medical needs, for which no good therapeutics are yet available. . Diagnostics
and Enabling Technologies,
Insight Pharma Reports
series Related terms: biomarkers direct to consumer DTC genetic testing: The current marketplace for direct-to-consumer (DTC) genetic testing is very dynamic and fluid. At least 42 DTC genetic testing companies have been identified to date, and additional market entrants are likely. Firms marketing and selling genetic tests DTC have numerous factors to consider. This report focuses on health-related decision-making applications of DTC genetic tests and examines various components of this emerging business environment: Insight Pharma Reports, Direct to Consumer Genetic Testing, 2009 ethics: Ethics familial cancer: Cancer genomics family history: Interpreting family histories can be complicated by many factors, including small families, incomplete or erroneous family histories and particularly by variable penetrance and the current lack of real understanding of the multiple genes involved in polygenic diseases. Family risk is often cited in terms of absolute number of affected relatives with a disease, when (particularly in larger families) the ratio of affected to non- affected relatives may be a more telling statistic. Interpreting statistics and risk factors are no easy tasks under any circumstances, much less one as potentially significant as genetic testing. Related term: sporadic cancer gene expression profiling: Expression genes & proteins genetic counseling: A short-term educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling provides patients with information about their condition and helps them make informed decisions. [NHGRI] Related term: risk communication genetic discrimination: Cindy Pelligrini, legislative director for Rep. Louise Slaughter (New York) as part of a roundtable discussion on genetic discrimination said "It's Rep. Slaughter's view that all of us are ultimately uninsurable. The more that we learn about our genes, everyone has enough genetic flaws that we're anywhere from 5- 30 or 5- 50 depending who you are listening to, genetic flaws that predispose you to major, severe illnesses at some point in your lifetime. And so really what we are doing right now by allowing discrimination to happen is punishing the people with the bad luck to have the genes we have discovered first." [Dept. of Health and Human Services, National Committee on Vital and Health Statistics, Subcommittee on Privacy and Confidentiality, transcript, November 29, 2000] http://ncvhs.hhs.gov/001129tr2.htm Francis Collins, director of the National Institute for Human Genome Research, speaking at an American Association for the Advancement of Science event on the day Bill Clinton signed an executive order prohibiting federal government agencies from obtaining genetic information from employees or job applicants or from using genetic information in hiring and promotion decisions noted "But genetic information and genetic technology can be used in ways that are fundamentally unjust. Genetic information can be used as the basis for insidious discrimination. Already, with but a handful of genetic tests in common use, people have lost their jobs, lost their health insurance, and lost their economic well being because of the misuse of genetic information. It is estimated that all of us carry dozens of glitches in our DNA - so establishing principles of fair use of this information is important for all of us." [NHGRI in the news, "Dr. Francis Collins, Director of NHGRI, Applauds President Clinton's Action to Protect Federal Workers From Genetic Discrimination" Feb. 8, 2000] http://www.nhgri.nih.gov/NEWS/Executive_order/collins.html I'd
be very interested to hear of references in the scientific literature to back up
the quantitative estimates of individual genetic flaws. The only one I've
found is DL Halligan, PD Keightley, How many lethal alleles?
Trends in Genetics 19(2): 57- 59, Feb. 2003 Related terms: "good genes", "bad genes"; Ethics genetic enhancement: The use of genetic methodologies to improve functional capacities of an organism rather than to treat disease. MeSH, 2002 The subject of much discussion and concern over the ethics of, though new disease diagnoses, treatments (and concepts of "disease") are much closer than true genetic enhancements. The popular conception of selective breeding focuses on optimization of one or a very few traits (which produces tomatoes which ship well but have no taste, and purebred dogs with congenital hip dysplasia. Little attention has been paid to the tradeoffs (predictable and not) inevitable among polygenic traits. "Regression to the mean" also factors in. While two tall or two bright people tend to have children who are taller or brighter than average, they are NOT usually taller or brighter than the parents are. Only microbes with their greatly enhanced opportunities for evolving (with such short reproductive spans) seem to quickly get reliably bigger, better (in a sense) and stronger. Biological homeostasis is incredibly powerful. We may never be able to "enhance" complex traits such as intelligence or strength. But we need to learn how to talk about these issues -- preferably before actually being able to actually implement genetic enhancement. Beyond therapy: (enhancement), US President's Council on Bioethics http://www.bioethics.gov/topics/beyond_index.html
"Genetic enhancement:
A conceptual and ethical challenge for gene therapy
regulation", Eric T. Juengst, Lahey Medica Related term: designer babies genetic privacy: Genetics Privacy and Legislation, HGMIS, DOE, US http://www.ornl.gov/TechResources/Human_Genome/elsi/legislat.html genetic screening: Testing a population group to identify a subset of individuals at high risk for having or transmitting a specific genetic disorder. [NHGRI] genetic susceptibility: Genetic susceptibility is a very broad term because not only does it describe genetic mutations that convey high levels of predisposition affecting a small proportion of the population, like BRCA1/2 mutations for breast cancer, but it also includes the huge number of unidentified genetic variations that are much more common in the population but convey lower levels of risk and often involve interaction with specific exposures in the environment. New tumors in cancer survivors, National Cancer Institute, Benchmarks 7 (1) : 2, 2007 http://www.cancer.gov/newscenter/benchmarks-vol7-issue1/page2 Broader term: susceptibility genetic testing: Until now, government sponsored committees convened to address ‘genetic testing’ have generally limited their definition and their reports to concerns regarding diseases caused by single gene mutations… Another class of ‘genetic tests’ is related to pharmacogenetics, including ... variants or other inherited polymorphic traits that are not diagnostic of disease ... Clear language and differentiation of respective ethical, legal and societal issues are required to prevent inaccurate vernacular usage creating a confused public perception. Allen Roses “Pharmacogenetics and the practice of medicine” Nature 405: 857-865 June 15 2000 Related terms: genetic
counseling, genetic discrimination, risk communication genetic test: An analysis performed on human DNA, RNA, genes and/or chromosomes to detect heritable or acquired genotypes, mutations, phenotypes, or karyotypes that cause or are likely to cause a specific disease or condition. A genetic test also is the analysis of human proteins and certain metabolites, which are predominantly used to detect heritable for acquired genotypes, mutations or phenotypes. The purposes of these genetic tests include predicting risks of disease, screening of newborns, directing clinical management, identifying carriers, and establishing prenatal or clinical diagnoses or prognoses in individuals, families or populations. Tests that are used primarily for other purposes, but that may contribute to diagnosing a genetic disease (e.g. blood smear, certain serum chemistries), would not be covered by this definition. Also excluded from the definition are tests conducted exclusively for forensic identify purposes. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Currently there is no
uniform or comprehensive system to assess the analytic and clinical validity of
tests before they are offered to patients, and there are no laboratory standards
that specifically address molecular genetic testing or require uniform
proficiency testing procedures for them. ... The Department of Health and Human
Services (HHS) agencies involved in current genetic testing oversight include:
The Centers for Medicare and Medicaid Services (CMS), the Food and Drug
Administration (FDA), the Centers for Disease Control (CDC), and the Office for
Human Research Protections. Currently, three statutory and regulatory
mechanisms, which all fall under the purview of agencies within HHS, govern
genetic tests: The Clinical Laboratory Improvement Amendments of 1988 (CLIA),
the Federal Food, Drug and Cosmetic Act and other regulations for protecting
human subjects of research. Who regulates genetic tests? Audrey Huang,
Shawna Williams, Genetics & Public Policy Center, 2007 http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=10
germ cells: Reproductive cells in multicellular organisms. Unified Medical Language System, National Library of Medicine, US http://ghr.nlm.nih.gov/ghr/glossary/germcells germline mutation: A gene change in the body's reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; germline mutations are passed on from parents to offspring. Also called hereditary mutation. Cancernet (NCI) Dictionary of Cancer Terms, 2000 http://cancernet.nci.nih.gov/dictionary/dictionarya-g.html#g Current genetic tests focus on germline mutations. Related term: somatic cell GINA Genetic Information Nondiscrimination Act: http://en.wikipedia.org/wiki/Genetic_Information_Nondiscrimination_Act "good genes", "bad genes": "There are no 'good' genes or 'bad' genes, there are merely networks that exist at various levels and at various connectivities, and at different states of sensitivity to perturbation," concluded Venter, Celera's president and chief scientific officer. "The notion that one gene equals one disease, or that one gene produces one key protein, is flying out the window." Science Hosts Press Event to Announce Sequencing of Human Genome, Science News Archives, 2001 http://www.aaas.org/news/releases/2001/human.shtml We now have glimpses of the concept that genes that confer advantages at one time in a person's life may have adverse effects as well. One of the best known examples is heterozygotes for sickle cell anemia being less susceptible to malaria (while homozygotes express the disease). Another possible example is APOE-4, associated with Alzheimer's disease, which may be correlated with a decreased risk of kidney damage following heart bypass surgery. Gene knockouts in model organisms have demonstrated that the absence of many genes may have no apparent effect upon phenotypes (though stress situations may reveal specific susceptibilities). Other single knockouts may have a catastrophic effect upon the organism, or be lethal so that the organism cannot develop at all. Human Genetics Commission: We are the UK Government's advisory body on new developments in human genetics and how they impact on individual lives. We give the Government advice on human genetics with a particular focus on the social, ethical and legal issues. Human Genetics Commission, UK http://www.hgc.gov.uk/Client/index.asp?ContentId=1 in vitro diagnostic multivariate index assays IVDMIAs: Draft Guidance for Industry, Clinical Laboratories and FDA Staff, In Vitro Diagnostic Multivariate Index Assays, CDRH, FDA, 2007 http://www.fda.gov/cdrh/oivd/guidance/1610.pdf infectious disease molecular diagnostics: Sessions include gaining regulatory approval for molecular diagnostics, Point of Care molecular tests, quantitative PCR and highly multiplexed assays Molecular Diagnostics for Infectious Diseases Aug 2009, Washington DC Intellihealth: guide to diagnostic tests Patient resources Narrower terms: molecular diagnostics, molecular pathology, research diagnostics; Nanoscience & Miniaturization DNA diagnostics - miniaturization medical genetics : The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases. American College of Medical Genetics, Mission Statement, 2001-2007 http://www.acmg.net/AM/Template.cfm?Section=Mission_Statement&Template=/CM/HTMLDisplay.cfm&ContentID=2103 medical genomics: Term that is sometimes used interchangeably with clinical genomics. For the purposes of this report, medical genomics refers to any application of genomics to medicine, which includes preclinical as well as clinical applications. Those areas of medical genomics that occur in laboratory or clinical settings would therefore be considered a type of clinical genomics. CHA Cambridge Healthtech Advisors, Clinical Genomics: The Impact of Genomics on Clinical Trials and Medical Practice report, 2004 Google = about 2,030 Mar. 10, 2003; about 6,050 June 10, 2004 molecular diagnostics:
Molecular diagnostic applications in the areas of oncology,
personalized medicine, inherited disorders, prediction of genetic disease risk,
and many others are rapidly increasing in number as this burgeoning field
expands beyond infectious disease testing. ... The molecular diagnostics market
is exploding. New genes and biomarkers are continually being identified and
clinically validated, increasing the number of different tests available. The
requisite technology and instruments are advancing in tandem. While many
companies offer tests that detect only one or a few genetic changes, some
companies have now developed tests capable of detecting large numbers of these
changes. Many companies are taking their tests through the traditional
diagnostics market strategy of gaining FDA clearance, while others have chosen a
different strategy and are offering tests through their own CLIA-certified
laboratories. Insight Pharma Reports, Molecular
Diagnostics: A dynamic and rapidly broadening market, 2009 The scope note of the Journal of Molecular Diagnostics mentions "translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries with direct application to clinical diagnostics or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods for diagnosis or monitoring of disease predisposition." [Journal of Molecular Diagnostics, Association for Molecular Pathology] http://jmd.amjpathol.org/misc/ifora.shtml "The term molecular diagnostics has a relatively narrow clinical definition, namely, the use of nucleic acids as analytes in assays designed to investigate given disease states." Review by Charles P. Cartwright of Molecular Diagnosis of Infectious Diseases by U. Reischl, Humana Press, 1998, American Journal of Clinical Pathology Archive. Is this changing? The first molecular diagnostic products to reach the market included tests for detection for viral RNA or DNA, genetic tests, and tests to determine risk for developing certain cancers, such as breast or colon cancer. Now, a wealth of genomic data is enabling researchers to predict a patient's response to therapy based on the genetic make- up of a tumor (in the case of cancer), the viral genotype (for viral infections), or the genetic make- up of the patient (for a wide variety of conditions). HIV genotyping is an early example of how treatment decisions are made based on the genotype of the virus. Genetic polymorphisms of certain cytochrome P450 enzymes can affect how a patient metabolizes certain drugs, and thus can affect effectiveness or toxicity of these drugs in certain patients. Potential applications for emerging molecular diagnostics tests include genetic testing and susceptibility testing, diagnosis of disease, and determining prognosis. Google = about 70,200 June 10, 2004, about 244,000 Aug. 22, 2005; about 824,000 Nov. 10, 2006; about 1,566,000 Nov 13, 2009 Traditionally, diagnostics has been quite distinct from therapeutic development. Molecular medicine is changing that paradigm, as molecular markers become increasingly important for understanding disease biology, selecting and validating targets, and assessing the efficacy and safety of compounds under development. Such molecular diagnostics have a much greater role, only one of which involves commercialization and use in patient care.
Broader term: diagnostics molecular diagnostics - cancer: Cancer genomics & diagnostics molecular diagnostics techniques: MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Included are such techniques as IN SITU HYBRIDIZATION of chromosomes for CYTOGENTIC ANALYSIS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS of gene expression patterns in disease states; identification of pathogenic organisms by analysis of species specific DNA sequences; and detection of mutations with PCR (POLYMERASE CHAIN REACTION). MeSH, 2002 molecular pathology: The collection and analysis of tissue samples is a long- established technique in pathology. What is new in "molecular pathology" is the emphasis on assessing gene expression in addition to morphology, and the use of gene expression analysis to validate large numbers of targets. (However, histochemistry and immunohistochemistry have been used, for specific proteins, since before the advent of genomics.) Corporate genomic researchers are increasingly seeking access to human tissue samples via collaborations with pathology departments at clinical research institutions. Google = about 147,000 June 10, 2004; about 1,170,000 Nov 10, 2006 Related term: molecular diagnostics new-born screening: Performed in newborns in state public health programs to detect certain genetic diseases for which early diagnosis and treatment are available. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf next generation
diagnostics: Sessions
include health economics and adoption, establishing clinical utility,
reimbursement trends, standards development to improve performance of tests Personalized Diagnostics February 3-5, 2010 • San
Francisco, CA Program | Register | Download Brochure pharmacodiagnostics: This report examines the reasons why the business environment of pharmaceuticals is changing in favor of pharmacodiagnostics, or theranostics, and describes market models that are likely to emerge as the pharmaceutical and diagnostic industries collaborate to bring personalized medicine to fruition. Pharmacodiagnostics and personalized medicine promise to address the key problems faced by the pharmaceutical industry. Insight Pharma Reports, Pharmacodiagnostics: Technologies, Competition and Market Models, 2005 http://www.insightpharmareports.com/reports/2005/51_Pharmacodiagnostics/overview.asp pharmacogenetic tests: Pharmacogenomics See also pharmacogenomic tests point of care
diagnostics: Sessions include Connectivity, Disease
management and eHealth, Expert
Panel: BARRIERS TO NEXT GENERATION POINT-OF-CARE DIAGNOSTICS AND ROLE OF STANDARDS Relative simplification and miniaturization have moved a number of diagnostic tests from laboratories into doctor's offices , hospital bedsides and homes. The Dept. of Defense has spent a good deal of money on developing robust, miniaturized and disposable pathogen diagnostic instrumentation. Some of these technologies will be as applicable to the home or clinic as to the detection of bioterrorism. population genetics, population genomics: SNPs and other genetic variations post-genomic, post-Mendelian: Genomics preconception testing: See carrier testing, prenatal diagnosis predictive testing: Determines the probability that a healthy individual with or without a family history of a certain disease might develop that disease. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf predisposition, genetic:
Increased susceptibility to a particular disease due to the
presence of one or more gene mutations, and/or a combination of alleles
(haplotype), not necessarily abnormal, that is associated with an increased risk
for the disease, and/or a family history that indicates an increased risk for
the disease. Definition from: GeneTests Related term: susceptibility. predisposition test: A test for a genetic predisposition (incompletely penetrant conditions). Not all people with a positive test result will manifest the disease during their lifetimes. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing Editors: Neil A. Holtzman, Michael S. Watson, Sept. 1997 http://www.nhgri.nih.gov/ELSI/TFGT_final/ Related terms: predictive testing, predisposition, susceptibility preimplantation diagnosis: Used following in vitro fertilization to diagnose a genetic disease or condition in a preimplantation embryo. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Not a routine procedure, most often used when parents have previously had a child with a serious genetic illness. Genetic conditions can be diagnosed in embryos of only eight or even fewer cells, with one or more healthy embryos reimplanted.. prenatal diagnosis: Used to diagnose a genetic disease or condition in a developing fetus. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Related terms: carrier testing, molecular genetic screening presymptomatic test: Predictive testing of individuals with a family history. Historically, the term has been used when testing for diseases or conditions such as Huntington's disease where the likelihood of developing the condition (known as penetrance) is very high is people with a positive test result. Enhancing the oversight of genetic tests: Recommendations of the SACGT, Secretary's Advisory Committee on Genetic Testing, June 2000 http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf Current experience with genetic testing involves only a limited number of tests involving single genes. Our thinking about genetics is shaped by the Mendelian model of monogenic disorders with high penetrance (which tend to be relatively rare). How will we interpret -- and begin to make decisions about tests involving multiple genes (polygenic) disorders with varying penetrance. Will we become more aware of various tradeoffs, or continue to look for silver bullets to "cure" conditions (both acute and chronic)? Will the level of understanding of both biology and statistics be sufficient to allow informed public debate? Related terms: predisposition, susceptibility; Genomics pre-Mendelian research diagnostics: Hard to predict the speed at which these will move into the clinic. The growing momentum of genomics and molecular analysis has enormous promise for earlier and non (or less) invasive diagnostics, novel therapeutics and more precise prognoses in cancer, cardiovascular and infectious diseases. Improved patient stratification holds the allure of faster, smaller clinical trials and fewer adverse effects for patients. Advances in gene sequencing and analysis have made these processes higher throughput, more scaleable and reproducible. GeneTests lists Nov 10, 2006 365 GeneReviews, 1,150 Clinics, 608 Laboratories testing for 1,317 Diseases. 1,024 Clinical, 293 research only http://www.genetests.org/ Oct. 15, 2003 had 993 diseases, with 645 clinical tests and 348 research only. risk communication: An educational process through which a genetic counselor attempts to interpret how a genetic condition is inherited and the chances that it might be passed on to children. [NHGRI] SACGT: Secretary's Advisory Committee on Genetic Testing. See under genetic testing. screening: Carrying out of a test or tests, examination(s) or procedure(s) in order to expose undetected abnormalities, unrecognized (incipient) diseases, or defects: examples are mass X-rays and cervical smears. [IUPAC Tox] Not the same as screening Drug discovery & development selectivity: See analytical specificity sensitivity (in analytical chemistry): Extent to which a small change in concentration of an analyte can cause a large change in the related measurement. (Gold, Loening, McNaught and Sehmi, 1987) [IUPAC Tox] sensitivity (of a screening test): Extent (usually expressed as a percentage) to which a method gives results that are free from false negatives; the fewer the false negatives, the greater the sensitivity. Quantitatively, sensitivity is the proportion of truly diseased persons in the screened population who are identified as diseased by the screening test (Galen and Gambino, 1975) Related Term specificity (of a screening test) [IUPAC Tox] Related terms: analytical sensitivity, clinical sensitivity sex selection: President's Council on Bioethics, http://www.bioethics.gov/topics/sex_index.html somatic cells: All body cells, except the reproductive cells. Somatic gene mutations (such as those caused by sun damage or radiation) are not inherited. Related terms: germline mutation, susceptibility. specificity: See analytical specificity, clinical specificity sporadic cancer: Cancer genomics susceptibility: This large diversity in responsiveness among individuals to environmental toxicants makes it difficult to determine actual risks, particularly at the low doses to which most people are exposed. Opportunities now exist for studies of genetic susceptibility for cancer and other diseases in which an environmental component can be presumed. Knowledge from such studies could, in the future, allow markers of genetic susceptibility to be incorporated into epidemiologic studies. This, in turn, would permit adjustment of interpretation of results to account for genetic susceptibility, thus greatly enhancing the sensitivity and power of these studies to detect environmental components of important diseases. Other projects being considered are a nutrition initiative to determine how nutritional status alters disease susceptibility, and development of transgenic mice that carry important environmental response gene. NIEHS Strategic Plan 2000 "Individual susceptibility", National Institute of Environmental Health Sciences, US, March 2000 http://www.niehs.nih.gov/external/plan2000/suscptblty.htm Susceptibility seems essentially synonymous with predisposition. Are there differences? Narrower term: genetic susceptibility Related terms: genetic screening, predisposition test, predictive test, risk communication; Pharmacogenomics toxicogenomics See also drug safety & pharmacovigilance theranostics: "A tremendous amount of discovery and clinical development for new drugs involves clinical trials that include companion diagnostic tests," asserts Brian Buxton, co-founder of Easton Associates. "These ‘theranostic’ tests are poised to become a major factor in the future worldwide in vitro diagnostic testing market" BioIT World, March 2006 uncertainty: Molecular Medicine Bibliography Other patient and disease related resources: Patient resources How to look for other unfamiliar terms IUPAC definitions are reprinted with the permission of the International Union of Pure and Applied Chemistry. |
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