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diagnostics, genetic & genomic testing glossary & taxonomy
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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. Cambridge Healthtech Drug Discovery Map http://www.healthtech.com/drugdiscoverymap.asp
cost of DNA sequencing might not matter in a few years,” says the Broad
Institute’s Chad Nusbaum. “People are saying they’ll be able to sequence
the human genome for $100 or less. That’s lovely, but it still could cost you
$2,500 to store the data, so the cost of storage ultimately becomes the limiting
factor, not the cost of sequencing. We can quibble about the dollars and cents,
but you can’t argue about the trends at all.” But
these issues look relatively trivial compared to the challenge of mining a
personal genome sequence for medically actionable benefit. Stanford’s chair of
bioengineering, Russ Altman, points out that not only is the cost of sequencing
“essentially free,” but the computational cost of dealing with the data is
also trivial. “I mean, we might need a big computer, but big computers exist,
they can be amortized, and it’s not a big deal. But the interpretation of the
data will be keeping us busy for the next 50 years.” Or as Bruce Korf, the
president of the American College of Medical Genetics, puts it: “We are close
to having a $1,000 genome sequence, but this may be accompanied by a $1,000,000
interpretation.” The road to the $1,000 Genome Sept 2010 http://www.bio-itworld.com/2010/09/28/1Kgenome.html
Analyte Specific Reagents (ASRs): "antibodies, both polyclonal and monoclonal, specific receptor proteins, ligands, nucleic acid sequences, and similar reagents which, through specific binding or chemical reaction with substances in a specimen, are intended for use in a diagnostic application for identification and quantification of an individual chemical substance or ligand in biological specimens." Classification information for ASRs can be found in 21 CFR 864. 4020(a)12. Overview of IVD regulation, FDA, CDRH http://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/IVDRegulatory
analytical selectivity: Note that IUPAC 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 "Selectivity in Analytical Chemistry. Recommendations for its use" Pure and Applied Chemistry Vol. 73, No. 8, pp. 1381–1386, 2001 http://pac.iupac.org/publications/pac/pdf/2001/pdf/7308x1381.pdf Compare analytical specificity
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 Compare analytical selectivity.
cancer diagnostics: Cancer
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
It will be interesting to see how many people opt for carrier testing, given this 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.
sequencing and diagnostics: Advances
in Clinical Genome Sequencing and Diagnostics March
2013 Table of Contents | Tables and Figures
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 therapies: Drug discovery & development May refer to drug/diagnostic or drug/device as well as drug/drug combinations
companion diagnostics: Executive Summit: Global Strategies for Companion Diagnostics November 4-5, 2013 • Cambridge, MA Program | Register | Download Brochure
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. Targeted and tailored therapies and companion diagnostics are two pillars of personalized medicine. For diagnostics to be successfully integrated into clinical practice, several parties need to work collaboratively, including a diagnostic partner and a pharmaceutical partner, as well as regulators, clinicians and, not to be forgotten in haste, patients.
One trend in genetic
diagnostics and therapeutics is to become increasingly intertwined.
identify subsets of patients who would benefit from a specific drug.
computer aided diagnosis CAD:
A real-time quantitative analysis workstation with functionality to evaluate
multi-modality breast images could facilitate earlier and more accurate
diagnosis and improve evaluation of the effectiveness of treatment plans,
according to a presentation in the quantitative
imaging reading room showcase at RSNA 2010. Health Imaging & IT 2010 http://www.healthimaging.com/index.php?option=com_articles&article=25490&publication=8&view=portals
"designer babies": Steven Pinker, Human Nature and Its Future, 2003 http://bioethics.georgetown.edu/pcbe/transcripts/march03/session3.html Not as inevitable as many people seem to think.
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
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. Related terms: biomarkers Narrower terms: molecular diagnostics, molecular pathology, point of care diagnostics, research diagnostics; Nanoscience & Miniaturization DNA diagnostics - miniaturization
digital pathology: A dynamic, image-based environment that enables the acquisition, management and interpretation of pathology information generated from a digitized glass slide. Often used interchangeably with “Virtual Microscopy.” Glossary of Terms, Digital Pathology Association https://digitalpathologyassociation.org/glossary-of-terms_1
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
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
General Purpose Reagent (GPR): "a chemical reagent that has general laboratory application, is used to collect, prepare, and examine specimens from the human body for diagnostic purposes, and is not labeled or otherwise intended for a specific diagnostic application …[General purpose reagents] do not include laboratory machinery, automated or powered systems." Classification information for GPRs can be found in 21 CFR 864.4010(a)11. Overview of IVD regulation, FDA, CDRH http://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/IVDRegulatory
Genetic Counseling Definition Task Force of the National Society of Genetic
Counselors (NSGC) developed the following definition of genetic counseling that
was approved by the NSGC Board of Directors: Genetic counseling is the process
of helping people understand and adapt to the medical, psychological and
familial implications of genetic contributions to disease. This process
integrates the following: Interpretation of family and medical histories to
assess the chance of disease occurrence or recurrence. Education about
inheritance, testing, management, prevention, resources and research. Counseling
to promote informed choices and adaptation to the risk or condition.
A new definition of Genetic Counseling: National Society of Genetic
Counselors' Task Force report. National Society of Genetic Counselors' Definition Task Force, Resta R, Biesecker BB, Bennett
JL. J Genet
Couns. 2006 Apr;15(2):77-83.
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.genome.gov/10002345
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"
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. Related term: designer babies
(enhancement), US President's Council on Bioethics
genetic privacy: http://epic.org/privacy/genetic/
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://benchmarks.cancer.gov/2007/01/new-tumors-in-cancer-survivors/ Broader term: susceptibility
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
genomic testing: Extensive media coverage of genomic discoveries has fueled the public appetite for personalized medicine and a rush to develop and market new genomic tests, often without the necessary intervening research. Public health sciences have an important role in evaluating the validity and utility of genomic tests, which include not only DNA-based tests for single gene variants, but complex genotypes, tests for acquired mutations, and measures of gene expression, from RNA microarrays to biochemical assays. Before a genomic test can be used for epidemiologic research or clinical practice, laboratory comparison with a gold standard must demonstrate analytic validity. Epidemiologic studies are needed to establish clinical validity (sensitivity, specificity, and predictive value). Research Priorities for Public Health Sciences in the Post- Genomic Era, Marta Gwinn and Muin J. Khoury, Centers for Disease Control, US Genetics in Medicine 4(6): 410- 411, 2002 http://journals.lww.com/geneticsinmedicine/Fulltext/2002/11000/Research_priorities_for_public_health_sciences_in.2.aspx
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.
in vitro diagnostic multivariate index assays IVDMIAs: emerging diagnostic vehicles growing in popularity for a wide variety of illnesses; in fact, many experts estimate that over 200 of these tests are in the development pipeline. IVDMIAs harness multiple molecular and non-molecular markers to produce a diagnostic, prognostic and/or predictive index (value) for a patient. IVDMIA, College of American Pathologists 2010 http://www.cap.org/apps/cap.portal?_nfpb=true&cntvwrPtlt_actionOverride=%2Fportlets%2FcontentView...mmittees%2Ftechnology%2Fivdmia.html&_state=maximized&_pageLabel=cntvwr
Draft Guidance for Industry, Clinical Laboratories and FDA Staff, In Vitro Diagnostic Multivariate Index Assays, CDRH, FDA, 2007 http://www.fda.gov/downloads/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/ucm071455.pdf
in vitro diagnostics: Tests that can detect diseases, conditions, or infections. Some tests are used in laboratory or other health professional settings and other tests are for consumers to use at home. CDRH-Office of In Vitro Diagnostic Device Evaluation and Safety, FDA http://www.fda.gov/medicaldevices/productsandmedicalprocedures/invitrodiagnostics/default.htm
In vitro diagnostic products are those reagents, instruments, and systems intended for use in diagnosis of disease or other conditions, including a determination of the state of health, in order to cure, mitigate, treat, or prevent disease or its sequelae. Such products are intended for use in the collection, preparation, and examination of specimens taken from the human body. [21 CFR 809.33] Overview of IVD regulation, FDA, CDRH http://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/IVDRegulatoryAssistance/ucm123682.htm
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
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
molecular diagnostics: Industry-leading growth rates, expanding applications and innovation characterize the molecular diagnostics sector. This report presents a synthesis of these developments including the increased diversity of assay targets, emergence of new and proposed point of care (POC) products, the appearance of sequencing-based assays that could fundamentally alter the field and automated low-density microarray-based assays. Insight Pharma Reports: Molecular Diagnostics: Double Digit Growth Anticipated 2011
Molecular diagnostic tools are driving innovation and investment, shaping a core business area in biotech, pharma and device companies. The shift toward developing diagnostic platforms comes from the advances in sequencing, microarrays, and microfluidics. The availability of new sequencing platforms and point-of-care assays will stimulate the growth in the field by providing greater speed, convenience and sensitivity, leading to improved outcomes and greater cost savings. Molecular Diagnostics Summit Europe October 11-13, 2011 • Hannover Germany Program | Register | Download Brochure
Molecular Diagnostics February
10-12, 2014 • San Francisco, CA Program | Register | Download Brochure
"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?
Broader term: diagnostics Related terms: companion diagnostics, molecular pathology; microarrays Narrower terms: next generation diagnostics, Point of Care Diagnostics
molecular diagnostics - cancer: Cancer genomics & diagnostics
molecular diagnostics non-invasive:
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: A subspecialty of pathology concerned with the molecular basis (e.g., mutations) of various diseases. MeSH 2010
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. Related terms: digital pathology, molecular diagnostics
multiplex assays: Multiplex assays for simultaneously detecting several biomarkers in a single sample, traditionally used in discovery proteomics, are becoming popular in clinical diagnostics research. The range of clinical applications for these assays is broad and includes autoimmune disease, infectious disease, oncology, cardiology, and endocrinology testing, as well as metabolomics and toxicology screening. The anticipated advantage of multiplex assays in clinical diagnostics is the fact that a panel of several biomarkers has better diagnostic value than a single analyte. However, some substantial obstacles are in the way of clinical utility of identified sets of biomarkers.
in the clinical laboratory setting: The
technology that employs micro fabricated devices for biomedical applications
i.e. using sample and reagents in minute amounts e.g. nanoliter range, has seen
an almost exponential growth. The potential of this technology for analytical
purposes in biomedicine has been demonstrated for immunoassays, the polymerase
chain reaction (PCR), cell isolation, electrophoresis and mass spectrometry.
This technology will also offer large scale screening possibilities for a wide
range of analytes and be applicable outside the traditional laboratory through
the introduction of robust and simplified instruments. The recommendations will
address issues related to traceability of calibrators, transferability of
results and other data performance specifications and quality assessment. IUPAC,
Recommendations for the use of nanotechnology in clinical laboratories, project
number: 2000-014-1-700, 2001 http://www.iupac.org/projects/2000/2000-014-1-700.html
Next Generation Dx Summit August
19-21, 2014 • Washington, DC
personalized medicine: Molecular medicine
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.
point of care diagnostic technologies: The Point-of-Care Technologies Research Network (POCTRN) was created to drive the development of appropriate point-of-care diagnostic technologies though collaborative efforts that simultaneously merge scientific and technological capabilities with clinical need. ... Core functions include Conduct in-house clinical testing of prototype point-of-care devices, Collaborate with physical scientists, biochemical scientists, computational scientists, and engineers on exploratory technology development projects. Complete clinical needs assessments in areas anticipated to advance the field of point-of-care testing and disseminate this information to the technology development community. Point of Care TEchnologies Research NEtwork, NIBIB, NIH http://www.nibib.nih.gov/Research/POCTRN
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 from the University of Washington and Children's Health System, Seattle via Genetics Home Reference http://ghr.nlm.nih.gov/ghr/glossary/geneticpredisposition 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
in favor of array-based cytogenetic assays in place of traditional karyotyping
is well underway. For higher risk pregnancies the use of sequence-based
testing of cell-free DNA in maternal blood is becoming more common, although
evidence of genetic abnormalities must then still be confirmed with more
invasive procedures. Research aimed at isolation of nucleated fetal cells
from maternal blood could provide better answers with lower risk in the future.
Advances in single cell sequencing are being applied to pre-implantation
diagnostics and could be particularly powerful when combined with fetal cell
isolation from maternal blood. Progress is also being made in the
development of biomarkers to assess the risk of both pre-term labor and
preeclampsia, which offers the potential of much earlier steps to limit these
in Prenatal Molecular Diagnostics Conference September 2013 Order CD http://www.healthtech.com/prenatal-diagnostics/
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
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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.
March 17 2011 530 GeneReviews, 1,193 clinics, 594 Labs testing for 2,296
diseases 2,030 Clinical 266 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://bioethics.georgetown.edu/pcbe/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
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 See also pharmacodiagnostics
uncertainty: Molecular Medicine
Other patient and disease related resources: Patient resources
Diagnostics Conferences http://www.healthtech.com/Conferences/Search.aspx?k=&r=&s=BMK
IUPAC definitions are reprinted with the permission of the International Union of Pure and Applied Chemistry.
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