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Molecular diagnostics glossary & taxonomy SCOPE NOTE Diagnostics
include biomarkers, circulating cell free DNA, companion diagnostics, pharmacogenomics for
clinical trial patient stratification, prenatal diagnostics
Related glossaries include Biomarkers
Cancer Clinical trials
Diagnostics overview
Drug
safety & Pharmacovigilance Medical
Informatics Molecular
Medicine Pharmacogenomics
Regulatory Sequencing
SNPs & other genetic
variations Therapeutic areas including cardiovascular, CNS,
immunology, infectious diseases & inflammation
Cancer
diagnostics are also in the
Cancer overview
Next Generation Diagnostics
2020
Molecular Medicine TriConference Precision Health March
2-4, 2020 San Francisco CA https://www.triconference.com/Precision-Health
key opinion leaders in immunotherapy, liquid biopsy, and cell and gene
therapy will discuss the latest tools, clinical advances, and commercial
applications of a broad range of new and diverse products for vast
improvements in medicine and healthcare.
$1,0000 genome:
The
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. ASR's that otherwise fall within
this definition are not within the scope of subpart E of this part when they are
sold to: (1) In vitro diagnostic manufacturers; or (2) Organizations that use
the reagents to make tests for purposes other than providing diagnostic
information to patients and practitioners, e.g., forensic, academic, research,
and other nonclinical laboratories. FDA, Code of Federal Regulations,
Medical Devices
https://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfcfr/CFRSearch.cfm?fr=864.4020
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://old.iupac.org/reports/provisional/abstract01/vessman_300901.html
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/
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 2000
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/ Related terms:
clinical specificity
and specificity Compare analytical selectivity.
biopsy:
a medical
test commonly performed by a surgeon, interventional
radiologist, or an interventional
cardiologist involving extraction
of sample cells or tissues for
examination to determine the presence or extent of a disease. The tissue
is generally examined under a microscope by
a pathologist,
and can also be analyzed chemically. When an entire lump or suspicious
area is removed, the procedure is called an excisional biopsy.
An incisional biopsy or core biopsy samples a portion of the abnormal
tissue without attempting to remove the entire lesion or tumor. When a
sample of tissue or fluid is removed with a needle in such a way that
cells are removed without preserving the histological architecture of the
tissue cells, the procedure is called a needle
aspiration biopsy. Biopsies are most
commonly performed for insight into possible cancerous and inflammatory
conditions. Wikipedia accessed 2018 Nov 8
https://en.wikipedia.org/wiki/Biopsy
capsule endoscopy:
a procedure that uses a tiny wireless camera to take pictures of your digestive
tract. Mayo Clinic
https://www.mayoclinic.org/tests-procedures/capsule-endoscopy/about/pac-20393366
Also known as camera pills, video pills.
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/
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 chemistry:
(also known as chemical pathology, clinical
biochemistry or medical
biochemistry) is the area of chemistry that
is generally concerned with analysis of bodily
fluids for diagnostic and therapeutic purposes.
It is an applied form
of biochemistry (not
to be confused with medicinal
chemistry, which involves basic
research for drug
development). The discipline
originated in the late 19th century with the use of simple chemical
reaction tests for various
components of blood and urine.
In the many decades since, other techniques have been applied as science
and technology have advanced, including the use and measurement f
enzyme activities, spectrophotometry, electrophoresis,
and immunoassay.
Wikipedia accessed 2018 Sept 3
https://en.wikipedia.org/wiki/Clinical_chemistry
Clinical Chemistry Tests:
Laboratory tests demonstrating the presence of physiologically significant
substances in the blood, urine, tissue, and body fluids with application
to the diagnosis or therapy of disease. MeSH Year introduced: 1998
Clinical NGS Next Generation Sequencing Diagnostics
Clinical sequencing is enabling personalized
medicine to combat a host of diseases, from cancers to infections, with applications of circulating tumor cells, liquid
biopsy utilization, and the technologies and approaches to strategize and
optimize processes to bring developments to the clinic and beyond. 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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/ Related
term: analytical specificity
combination products:
Include (1) A product comprised of two or more
regulated components, i.e., drug/device, biologic/device, drug/biologic, or
drug/device/biologic, that are physically, chemically, or otherwise combined or
mixed and produced as a single entity;
combination
therapies: Drug discovery &
development
May refer to drug/diagnostic or drug/device as
well as drug/drug combinations
Companion
Diagnostics and Clinical Biomarkers 2020 March 2-4, San Francisco
Clinical biomarkers and companion diagnostics play
pivotal roles in clinical development and market access of new therapeutics as
well as deliver significant patient benefits, healthcare cost savings, and
revenue opportunities. Population genetics and pharmacogenomics became platforms
for new drug discovery with NGS enabling sophisticated approaches for target and
pathway identification and validation. Pharmaceutical companies are embracing
biomarkers as a way to decrease drug failures in the clinic by streamlining
patient selection and stratification.
https://www.triconference.com/Companion-Diagnostics
Computer-aided
detection (CADe),
also called computer-aided diagnosis (CADx),
are systems that assist doctors in the interpretation of medical images. Imaging
techniques in X-ray, MRI,
and ultrasound diagnostics
yield a great deal of information that the radiologist or other medical
professional has to analyze and evaluate comprehensively in a short time. CAD
systems process digital images for typical appearances and to highlight
conspicuous sections, such as possible diseases, in order to offer
input to support a decision taken by the professional. CAD also has
potential future applications in digital
pathology with the advent of whole-slide imaging and machine
learning algorithms. So far its application has been limited to
quantifying immunostaining but
is also being investigated for the standard H&E
stain.[1]
CAD is an interdisciplinary technology
combining elements of artificial
intelligence and computer
vision with radiological and pathology image
processing. A typical application is the detection of a tumor. For instance,
some hospitals use CAD to support preventive medical check-ups in mammography (diagnosis
of breast cancer), the detection of polyps in the colon
and lung
cancer. Wikipedia accessed 2018 Feb 26
https://en.wikipedia.org/wiki/Computer-aided_diagnosis
cytopathology: (from Greek κύτος, kytos,
"a hollow";[1] πάθος, pathos,
"fate, harm"; and -λογία, -logia)
is a branch of pathology that
studies and diagnoses diseases on the cellular level. The discipline was
founded by George
Nicolas Papanicolaou in 1928.
Cytopathology is generally used on samples of free cells or tissue
fragments, in contrast to histopathology,
which studies whole tissues. Cytopathology is commonly used to
investigate diseases involving a wide range of body sites, often to aid in
the diagnosis of cancer, but also in the diagnosis of some infectious
diseases and other inflammatory conditions. Wikipedia accessed 2018 Nov 8
https://en.wikipedia.org/wiki/Cytopathology
"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.
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
Diagnostic Innovation Summit 2020 May 19-21
Lisbon Portugal Developing rapid
tests and liquid biopsies
https://www.dxinnovationsummit.com/
the latest tools, clinical applications, and commercial product launches
for liquid biopsies, infectious disease, and point-of-care testing. They
will address regulatory changes, implementation challenges, and the path
forward for diagnostic innovation. 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
diagnostics automation:
Automation of the total testing process allows precise time-stamping and
error-free, legible entries that can be easily retrieved for future
reference. Zero tolerance of data entry duplications and immediate
transmission of results to electronic medical records (EMRs) are other
advantages of automation. Automated laboratory testing, synchronized with
hospital data management systems, results in efficient disease/health
management workflow. The automatic population of the data and the ability
to retrospectively analyze the test ordering pattern and results are major
benefits of the adoption of laboratory information systems (LIS) into the
diagnostic workflow. The interoperability of the LIS and the hospital
information system avoids test over-utilization and redundant or incorrect
test ordering and ensures follow-up of results and better management of
the reflex testing per guidelines. Web-based electronic health records and
ordering options offer simple and flexible solutions for information
gathering and transfer within the shortest possible time to ensure
physician adherence, and better and timely patient management. Molecular
Diagnostics Automation and Enhancing Lab Workflow, MLO Medical Laboratory
Observer 2016 Feb
https://www.mlo-online.com/molecular-diagnostics-automation-and-enhancing-lab-workflow
Digital Health,
Sensors, Wearable and IOT Clinical Utility and Emerging
Applications in Drug Development, Diagnostics, and Healthcare MARCH 11-13,
2019, San Francisco CA Digital Health is promising to
revolutionize healthcare delivery, optimize personalized and precision
medicine, and offer new tools for drug and diagnostic development. The
applications of biosensors, mobile devices and wearables, Internet of
Things, mobile health platforms, artificial intelligence, and digital
biomarkers are quickly expanding into all areas of patient monitoring and
disease management, point-of-care diagnostics, and digital endpoints in
clinical trials. Cambridge Healthtech Institute’s Inaugural Digital
Health: Sensors, Wearables, and IoT meeting will bring together leading
experts and thought leaders in digital health to discuss the latest
technologies and implementation of digital tools into drug development,
diagnostics and healthcare. https://www.triconference.com/Digital-Health
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 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
GeneReviews, an international
point-of-care resource for busy clinicians, provides clinically relevant
and medically actionable information for inherited conditions in a
standardized journal-style format, covering diagnosis, management, and genetic
counseling for patients and
their families.
genetic counseling:
The
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
RL, Blum
S, Hahn
SE, Strecker
MN, Williams
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
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
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
Beyond therapy:
(enhancement), US President's Council on Bioethics
http://bioethics.georgetown.edu/pcbe/topics/beyond_index.html
genetic predisposition
A genetic predisposition (sometimes also called genetic susceptibility) is
an increased likelihood of developing a particular disease based on a
person's genetic makeup. A genetic predisposition results from specific
genetic variations that are often inherited from a parent. These genetic
changes contribute to the development of a disease but do not directly
cause it. Some people with a predisposing genetic variation will never get
the disease while others will, even within the same family. Genetic
variations can have large or small effects on the likelihood of developing
a particular disease. US NLM NIH, Genetic home Reference What does it mean
to have a genetic predisposition?
https://ghr.nlm.nih.gov/primer/mutationsanddisorders/predisposition
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/
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 Narrower terms: carrier
testing, genetic screening, genetic test, molecular
genetic testing, newborn screening, predictive testing, predictive
testing, predisposition test, pre-implantation diagnosis, prenatal diagnosis,
presymptomatic test
genetic testing
clinical
Genetic testing has grown from a niche speciality for rare disorders to a
broad scope of applications for complex disease and personal use17,18.
Not surprisingly, the definition of a genetic test has changed as the
applications have evolved. Applications of clinical genetic testing span
medical disciplines, including: newborn screening for highly penetrant
disorders; diagnostic and carrier testing for inherited disorders;
predictive and pre-symptomatic testing for adult-onset and complex
disorders; and pharmacogenetic testing to guide individual drug dosage,
selection and response (TABLE
1).
Currently, genetic tests may be indicated in different clinical contexts
and ordered by multiple health-care providers Katsanis SH, Katsanis N.
Molecular genetic testing and the future of clinical genomics. Nature
reviews Genetics. 2013;14(6):415-426.
doi:10.1038/nrg3493.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461364/
genetic testing regulatory issues:
Genetic testing is in an area with substantial knowledge gaps; both
regulators and providers have acknowledged this issue. While CMS is in the
best position to address these gaps using the existing CLIA framework, it
has shown a reluctance to do so and the FDA has stepped in.25 Nonetheless,
it is hard to believe that the tools available to the FDA are a better fit
for the task. While the FDA's goals are admirable in trying to bring
regulatory coherence to the genetic testing industry, the FDA is imposing
an undue regulatory burden that will change the industry in a way that
harms providers and patients while not addressing the greatest problems.
These problems are best solved by better clinical guidelines from medical
associations, increased proficiency testing from laboratories (through CMS
and self-regulation), and reliance on the latest peer-reviewed research
which will allow this industry to stay innovative, agile, and open. The
FDA and genetic testing: improper tools for a difficult problem. J Law
Biosci. 2015;2(1):158-166. Published 2015 Feb 7. doi:10.1093/jlb/lsv002
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033563/ germ cells:
The reproductive
cells in multicellular organisms at various stages during GAMETOGENESIS MeSH
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
https://www.cancer.gov/publications/dictionaries/cancer-terms/def/germline-mutation
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":
a recurring theme
that is emerging as researchers probe the genetics of disease: genes are
probably only rarely unidimensionally good or bad. "Genes can act differently in
different environments," says James Hixson, of the University of Texas in
Houston. Several studies are showing that genes can be beneficial or harmful
depending on the tissue and time in which they are active, the presence or
absence of other genes, as well as the gender and life history of the individual
in whom they reside. Genome News Network Good Genes Bad Genes 2000
http://www.genomenewsnetwork.org/articles/07_00/goodgenes_badgenes.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.
histopathology:
(compound of three Greek words: ἱστός histos "tissue",
πάθος pathos "suffering", and -λογία -logia "study
of") refers to the microscopic examination
of tissue in
order to study the manifestations of disease.
Specifically, in clinical medicine, histopathology refers to the
examination of a biopsy or
surgical specimen by
a pathologist,
after the specimen has been processed and histological
sections have been placed onto glass
slides. In contrast, cytopathology examines
(1) free cells or (2) tissue micro-fragments (as "cell blocks"). Wikipedia
accessed 2018 Nov 8
https://en.wikipedia.org/wiki/Histopathology
immunohistochemistry (IHC):
involves the process of selectively imaging antigens (proteins)
in cells of a tissue section by exploiting the principle of antibodies binding
specifically to antigens in biological
tissues.[1] IHC
takes its name from the roots "immuno", in reference to antibodies used in
the procedure, and "histo," meaning tissue (compare to immunocytochemistry). Albert
Coons conceptualized and first
implemented the procedure in 1941.[2]
Immunohistochemical staining is widely used in the diagnosis of abnormal
cells such as those found in cancerous tumors.
Specific molecular markers are characteristic of particular cellular
events such as proliferation or cell death (apoptosis).[3] Immunohistochemistry
is also widely used in basic research to understand the distribution and
localization of biomarkers and
differentially expressed proteins in different parts of a biological
tissue. Wikipedia accessed 2018 Nov 8
https://en.wikipedia.org/wiki/Immunohistochemistry
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
Commercializing Novel IVDs , Harry Glorikian, Insight Pharma
Reports
http://www.insightpharmareports.com/Commercializing-Novel-IVDs-Report/\
Executive Summary
The
process of developing a successful in vitro diagnostic (IVD) relies on the
expertise of a diverse group of individuals, including the scientists who
identify the biomarkers of significance, engineers and assay developers
who translate those ideas into a tangible product, and the sales and
marketing staff who get the product into the market. Global and regional
trends have a tremendous effect on the IVD industry. Rising healthcare
costs have led to a greater emphasis on evidence-based medicine and a
focus on improved patient outcomes. An aging population along with the
growing epidemic of chronic diseases and (re)emergence of infectious
diseases are creating a demand for diagnostic devices for a variety of
conditions. The growth of emerging economies and the push for
decentralized healthcare are opening the IVD market to a wider audience.
Healthcare delivery systems are changing, with growing numbers of
integrated delivery networks and accountable care organizations, while
smaller physician and hospital networks are being acquired by larger
corporations and/or are aligning themselves with other small groups
Laboratory Developed Tests LDTs:
A laboratory
developed test (LDT)
is a type of in vitro diagnostic test that
is designed, manufactured and used within a single laboratory.
... For example, some
tests can
detect many DNA variations from a single blood sample, which can be used
to help diagnose a genetic disease. FDA, LDTs
https://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/LaboratoryDevelopedTests/default.htm
However, currently, patients and providers cannot uniformly rely on
all tests offered for clinical use as some are not subject to active
premarket oversight to ensure they provide accurate measurements and
valid claims. See also Laboratory
Developed Tests LDTs:
Regulatory
liquid
biopsy: Cancer
medical genomics:
Term that is sometimes used interchangeably with clinical genomics,
may
refer 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 could therefore be considered a type of clinical
genomics.
Microfluidics and
Lab-on-a-Chip
|
molecular
biopsy: Advances in sequencing
technologies and data analytics has brought about a new era in
understanding and interpreting cells, DNA, RNA, and exosomes, which in
turn has rapidly advanced our capabilities in diagnostics and
therapeutics. The Molecular Biopsy stream at Next Generation Dx Summit
gathers leaders, researchers, and experts in cell and DNA capture and
microdissection, sequencing, data analysis, and interpretation to explore
applications of molecular biopsy in clinical applications, their impact on
the healthcare system, and future directions for diagnostic assay research
and development.of advances in sequencing
http://www.nextgenerationdx.com/stream/molecular-biopsy/
The Journal of Molecular
Diagnostics,
the official publication of the Association for Molecular Pathology,
co-owned by the American Society for Investigative Pathology, publishes
high-quality original papers on scientific advances in the 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.
https://www.amp.org/resources/journal-of-molecular-diagnostics/
molecular
diagnostics - cancer Cancer
Molecular Diagnostics for Infectious Disease
March 2-4, San Francisco, CA
| Advancing
Molecular Diagnostics to Improve Detection and Patient Outcome
The role of advanced molecular diagnostics for infectious disease
continues to grow – not only are these assays moving into the clinic, but
they are being used for infection surveillance and outbreak control,
appearing in the pharmacy, and continuing to improve care in
resource-limited settings, the latest in NGS and metagenomics, the latest
regulatory and reimbursement challenges, and updates in the public health
sphere. We’ll further examine the role of host response vs. pathogen
detection in the clinic, the potential for microbiome analysis, and other
novel approaches to infectious disease diagnosis. Special attention will
be paid to antimicrobial resistance, from the clinical challenges to the
emerging technologies, and novel technologies being developed specifically
for resource-limited settings. We will also address the state of the
industry from the point-of-view of numerous stakeholders: industry,
regulatory, investment, technology, and clinical.
Broader term: diagnostics
Related terms: companion diagnostics, molecular pathology;
Narrower terms: next generation diagnostics, Point of Care Diagnostics
molecular
diagnostics non-invasive: See liquid
biopsy, prenatal diagnostic testing
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.
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/
Next Generation Diagnostics
2020 Aug 25-27, Washington DC coverage
spans cell- and cell-free biopsies, commercialization, reimbursement,
biomarkers and companion diagnostics for immunotherapy, point-of-care
testing, infectious disease, microfluidics and precision medicine.
patient
stratification:
point of care
diagnostics:
Point-of-Care Diagnostics March 2-4, 2020 • San Francisco, CA | It
is without argument that the point-of-care market is one of the fastest
growing markets in life sciences – POC diagnostics are quicker and more
efficient, can reach more patients, can eliminate follow-up visits, and
ultimately will save money in the healthcare system.
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 technologies:
AUGUST 26-27, 2020, Washington DC Point-of-care technologies (POCT)
provide actionable information at the location and time of care. This can
mean by the hospital bedside, on the battlefield, or even at home versus
conventional laboratory-based testing. This requires diagnostic testing to
be done in a way where sample preparation is automated, the assay or
sensor is accurate with a simple read out, having the whole platform
should be easy to bring to locations outside of a laboratory or a
hospital, and the cost to manufacture should be low. Some POC tests can
utilize a smart phone or other mobile device to provide data analysis and
is useful for sending data to the cloud. Creating an accurate, sensitive,
reliable diagnostics that anyone can use is difficult, and there are many
challenges to overcome.
https://www.nextgenerationdx.com/microfluidics/
population
genetics, population genomics: SNPs
and other genetic variations
precision
health: March 2-4 2020 San
Francisco CA
Molecular diagnostics and devices along with point-of-care tools, AI, and
companion diagnostics are enabling prediction, prevention, and precise
treatment of cancer, infectious disease and will expand to include many
other disease areas. https://www.triconference.com/precision-health
precision
medicine and diagnostics advanced technologies for
March 2-4, 2020 San Francisco CA
Recent technological advances and scientific breakthroughs have improved
our understanding of disease pathogenesis. These improvements in
sequencing, computing, and much more allow for more precise and faster
diagnosis and treatments.
https://www.triconference.com/Diagnostics-Technologies
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/ 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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/ 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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/ 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
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.
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 Toxicology Related terms: analytical sensitivity, clinical sensitivity
sex selection:
President's Council on
Bioethics, http://bioethics.georgetown.edu/pcbe/topics/sex_index.html
specificity: See analytical specificity, clinical specificity susceptibility:
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:
The term “theranostics” was coined to define ongoing efforts in clinics to
develop more specific, individualized therapies for various diseases, and to
combine diagnostic and therapeutic capabilities into a single agent. The
rationale arose from the fact that diseases, such as cancers, are immensely
heterogeneous, and all existing treatments are effective for only limited
patient subpopulations and at selective stages of disease development. The hope
was that a close marriage of diagnosis and therapeutics could provide
therapeutic protocols that are more specific to individuals and, therefore, more
likely to offer improved prognoses.
Nanoparticle-based
theranostic agents
Jin Xie, Seulki
Lee, and Xiaoyuan
Chen tissue
diagnostics: See biopsy, cytopathology, histopathology,
immunohistochemistry
Diagnostics Conferences
http://www.healthtech.com/conferences/upcoming.aspx?s=BMK
IUPAC definitions are reprinted with the permission of
the International Union of Pure and Applied Chemistry.
Evolving Terminologies for Emerging Technologies
Comments? Questions?
Revisions?
Mary Chitty MSLS
mchitty@healthtech.com
Last revised
January 10, 2020
<%end if%>
Kevin Davies $1,000 genome, http://authors.simonandschuster.com/Kevin-Davies/1879979
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 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/
Related
term: analytical sensitivity.
http://www.fda.gov/oc/combination/definition.html
See also
Biomaterials & Medical Devices
Related terms:
genetic diagnostics, molecular diagnostics; /synonym? Pharmacogenomics
pharmacogenomics
Related
terms: clinical genomics, diagnostics, disease intervention, diseases,
prognosis
Digital
Pathology The first digital pathology platform receiving FDA
approval has been introduced to the market and is leading to expanded deployment
of hardware solutions, along with accompanying software tools and applications.
These include slide-free imaging, enterprise-wide solutions and algorithms that
use machine learning and AI to improve diagnoses, guide treatment, and address
medical challenges across a variety of diseases. The merging of different fields
including radiology and pathology is leading to ways of creating digital
platforms and streamlining workflows.
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
https://www.ncbi.nlm.nih.gov/books/NBK1116/
GeneReviews glossary
https://www.ncbi.nlm.nih.gov/books/NBK5191/
http://www.ncbi.nlm.nih.gov/pubmed/16761103
https://books.google.com/books?id=BbeWA-gbiiwC&printsec=frontcover#v=onepage&q=pellegrini&f=false
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"
Genetic Discrimination:
Position Paper, Council for Responsible Genetics 2001 http://www.councilforresponsiblegenetics.org/pageDocuments/2RSW5M2HJ2.pdf
Genetic
discrimination http://www.genome.gov/10002077
genetic discrimination in health insurance, NHGRI http://www.genome.gov/10002328
Potential for Genetic Enhancements in Sports,
Dr. Ted Friedmann, Univ. of California- San Diego, Chairman, Recombinant DNA
Advisory Committee, President’s Council on Bioethics, July 11, 2002 Session 4 http://bioethics.georgetown.edu/pcbe/transcripts/jul02/session4.html
Genetic Literacy
Project Is it time to retire “good genes” “bad genes” distinction?
2016 https://geneticliteracyproject.org/2016/01/06/time-retire-good-genes-bad-genes-distinction/
medical genetics :
the branch of medicine that
involves the diagnosis and management of hereditary
disorders.
Medical genetics differs from human
genetics in
that human genetics is a field of scientific research that may or may not apply
to medicine, while medical genetics refers to the application of genetics to medical
care.
For example, research on the causes and inheritance of genetic
disorders would
be considered within both human genetics and medical genetics, while the
diagnosis, management, and counselling people with genetic disorders would be
considered part of medical genetics. ..
Genetic medicine is a newer term for medical genetics and
incorporates areas such as gene
therapy, personalized
medicine, and the rapidly emerging new medical specialty, predictive
medicine. Wikipedia accessed 2018 Feb 26
https://en.wikipedia.org/wiki/Medical_genetics
American College of
Medical Genetics https://www.acmg.net/
American Society of Medical Genetics
http://www.ashg.org/
molecular
diagnostics: "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?
See also Pharmacogenomics
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873211/
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
IUPAC Poole, C., Mester, Z., Miró, M., et al. (2016). Glossary of terms
used in extraction (IUPAC Recommendations 2016). Pure and Applied
Chemistry, 88(5), pp. 517-558. doi:10.1515/pac-2015-0903 https://www.degruyter.com/view/j/pac.ahead-of-print/pac-2015-0903/www.degruyter.com/view/j/pac.ahead-of-print/pac-2015-0903/pac-2015-0903.xml
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.
sporadic cancer: Cancer
Diagnostics Resources
Genetics Home Reference Glossary, National Library of Medicine,
NIH, US, 2003, 450+ definitions http://ghr.nlm.nih.gov/ghr/glossary/
Enhancing the oversight of genetic tests: Recommendations of the SACGT,
Secretary's Advisory Committee on Genetic Testing, US June 2000
Gene Reviews glossary
https://www.ncbi.nlm.nih.gov/books/NBK5191/
GeneTests, Children's Hospital, Seattle, US http://www.genetests.org/
A publicly funded medical genetics information resource developed for
physicians, other healthcare providers, and researchers, available at no cost to
all interested persons.
Genetic Alliance http://www.geneticalliance.org/
Includes Online Directory of genetic resources. Coalition of 300+ consumer and
health professional organizations.
Genetics Home Reference Glossary, National Library of Medicine, NIH
https://ghr.nlm.nih.gov/
Glossary
of Terms, Digital Pathology Association https://digitalpathologyassociation.org/glossary-of-terms_1
IUPAC
International Union of Pure and Applied Chemistry, Glossary of Terms in
Quantities and Units in Clinical Chemistry, Biochim Clin 1995; 19: 471-502.
Around 300 definitions Pure & Applied Chemistry 68: 957- 1000, 1996
IUPAC
International Union of Pure and Applied Chemistry, GLOSSARY FOR CHEMISTS OF
TERMS USED IN TOXICOLOGY Clinical Chemistry Division, Commission on Toxicology,
Recommendations. Pure and Appl. Chem., 65 ( 9): 2003-2122, 1993. 1200+
definitions.
|https://sis.nlm.nih.gov/enviro/iupacglossary/frontmatter.html
NCI Dictionary of Genetics Terms
https://www.cancer.gov/publications/dictionaries/genetics-dictionary
NHGRI (National Human Genome Research Institute), Talking Glossary of Genetic
Terms, 250+ definitions.
Includes extended audio definitions.
https://www.genome.gov/genetics-glossary
Pharmacogenetic tests and genetic tests for inheritable markers: Guidance for
Industry and FDA Staff, CDER, FDA, 2006 http://www.fda.gov/downloads/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/ucm071075.pdf
Policy issues associated with undertaking a new large US Population Cohort
Study of Genes, Environment and Disease, Report of the Secretary's Advisory
Committee on Genetics, Health and Society, March 2007
https://repository.library.georgetown.edu/handle/10822/510689
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 Appendix 3.http://www.ncsl.org/research/health/genetic-privacy-laws.aspx
State Genetic Laws, National Conference of State Legislatures
2008 http://www.ncsl.org/research/health/genetic-employment-laws.aspx
State of the art of genetic testing in the US: Survey of
biotechnology companies and nonprofit clinical laboratories (1994-1995)
has some interesting observations. http://www.nhgri.nih.gov/ELSI/TFGT_final/
Other patient and disease related resources: Patient
resources
Molecular Medicine Tri Conference
Diagnostics
http://www.triconference.com/Molecular-diagnostics-and-devices/
Next Generation Diagnostics http://www.nextgenerationdx.com/
Insight Pharma Reports Biomarkers and Diagnostics
https://www.insightpharmareports.com/biomarkers-diagnostics
How
to look for other unfamiliar terms
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