Terms and Acronyms related to Genetics for Genetic Consumers

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Terms and Acronyms related to Genetics for Genetic Consumers. Compiled by Wendy Ricker for the Consumer Concerns Committee of the New England Regional Genetics Group April 1997, Revised October 1997 and May 2003

AAP
American Academy of Pediatrics, a professional organization. It has developed standards of care for some genetic conditions.

ABGC
American Board of Genetic Counseling. It provides accreditation Of training programs in genetic counseling and certifies master's level genetic counselors. ABMG American Board of Medical Genetics, a specialty board of the American Board of Medical Specialists. It accredits training programs in medical genetics and certifies medical geneticists (doctoral level practitioners).

ACMG
American College of Medical Genetics, a professional organization. It sets standards of practice for medical geneticists as well as standards and guidelines for laboratory genetics.

ACOG
American College of Obstetrics and Gynecology, a professional organization. It develops standards of care during pregnancy, which include recommendations about prenatal screening for possible genetic conditions.

ADA
Americans with Disabilities Act, a federal civil rights law. It protects people with disabilities and genetic predispositions from discrimination in a number of areas.

AFP
Alpha-FetoProtein. This is "a substance made by a developing fetus which can be measured in a pregnant woman's blood or amniotic fluid . . . " (Weiss & Mackta, 1996, p. 137). Unusually high or low values for the length of the pregnancy may suggest the baby has a condition such as spina bifida or Down syndrome or certain other conditions.

AG
Attorney General. This is the head lawyer for county, state, or federal governments.

Allele
Alleles are "the alternative forms of genes which occur at the same site on a chromosome and which determine alternative forms of a trait" (Weiss & Mackta, 1996, p. 136).

Amino acids
A set of 20 different molecules of a particular type which make up all the proteins in the human body. (NCI, 1995).

Amniocentesis
"The removal of a sample of amniotic fluid, the fluid surrounding the growing baby (fetus)" (Weiss & Mackta, 1996, p. 137).

ART
Assisted Reproductive Technology. These are highly sophisticated techniques to help couples who have longstanding difficulties in conceiving a baby. It includes in-vitro fertilization (see IVF).

ASHG
American Society of Human Genetics, a professional organization. Members include research scientists as well as clinicians in the field of genetics.

Autosome
"Chromosomes other than the sex (X or Y) chromosomes. Humans have twenty-two pairs of autosomes, numbered 1 through 22" (Weiss & Mackta, 1996, p. 137).

BRCA1
This is "a gene that normally helps to restrain cell growth" but "a mutated version of BRCA1, which predisposes a person toward developing breast cancer," is considered a breast cancer susceptibility gene (NCI, 1995, p.25).

CAP
College of American Pathologists, a professional organization. (Many laboratories are headed by pathologists.) This group sets standards for laboratories, although the standards are not specific to genetic testing. This organization does "proficiency testing" of laboratories to be sure they can get reliable results and interpret their results accurately. This is one part of the review of laboratories to be sure they meet "CLIA standards" for federal licensing.

Carrier
"A person who has a recessive mutated gene, together with its normal allele. Carriers do not usually develop [the condition] but can pass the mutated gene on to their children" (NCI, 1995, p. 25).

Carrier testing
The goal of such testing is identifying individuals, or couples, who carry a particular recessive gene allele that would result in a particular genetic condition if a child were to inherit copies of this allele from both parents.

CBA
Cost-Benefit Analysis. This is an approach to measuring costs versus benefits in monetary terms in setting public policies regarding health issues.

CDC
Centers for Disease Control and Prevention. This is an agency of the federal government that has provided funding related to the public health implications of genetics. This has included grants to assist states in developing registries for birth defects and developing newborn hearing screening.

CEA
Cost-Effectiveness Analysis. This is a way to compare different approaches which might yield a similar health benefit. Measures may include years of life, "quality-adjusted life years," the number of people with a condition, or "cost per year of life saved."

CHIP
Also known as SCHIP, this is the federally funded Children’s Health Insurance Program, run by the states. Its goal is to provide access to medical insurance for children whose family income is low but above the state’s standards to qualify for Medicaid. The federal budget provides a subsidy so families pay premiums on a sliding scale depending on income and family size.

Chromosome
"The cellular structure that stores and transmits genetic information. Chromosomes are composed of genes linked together in specific arrangements. The normal number of chromosomes in humans is forty-six" (Weiss & Mackta, 1996, p. 138).

Clone
"A group of identical genes, cells, or organisms derived from a single ancestor" (NCI, 1995, p. 26).

CMS
The Centers for Medicare and Medicaid Services is the part of the federal Department of Health and Human Services that deals with Medicare and Medicaid and state waivers for Medicaid. It was previously known as HCFA, the Health Care Finance Administration.

CPT Physicians
Current Procedural Terminology. The American Medical Association provides a set of five digit codes for medical procedures to be used for insurance purposes. The codes reflect what system of the body was involved and what service was provided. These codes faciliate processing of insurance claims. There are also associated diagnosis codes.

Crossing over
" A phenomenon, also known as recombination, that sometimes occurs during the formation of sperm and egg cells (meiosis); a pair of chromosomes (one from the mother and the other from the father) break and trade segments with one another" (NCI, 1995, p. 26).

CVS
Chorionic Villus Sampling. This is a diagnostic procedure sometimes used early in pregnancy (at 9 to 11 weeks of fetal growth) to detect certain genetic disorders.

Deletion
"The loss of a portion of a chromosome as a result of chromosome breakage" (Weiss & Mackta, 1996, p. 138).

DNA Deoxyribonucleic Acid
. It is "the substance of heredity; a large molecule that carries the genetic information necessary for the replication of cells and for the production of proteins, which are essential for growth, the building of new tissue, and the repair of injured or broken-down tissue" (Weiss & Mackta, 1996, p. 138).

DNA banking
DNA banking is "a way to store a DNA sample, to possibly be used in the future" (website, Medical Genetic Services, Marshfield Clinic, 5/28/2003). The future use of the DNA may depend on the circumstances under which the DNA was acquired, and whether the donor had the right to limit its usage.

DNA
probe "A specific sequence of single-stranded DNA used to seek out a complementary sequence in other single strands" (Weiss & Mackta, 1996, p. 138).

DOE
Department of Energy. This part of the federal government was one source of funding for the Human Genome Project.

Dominant allele
"A gene that is expressed, regardless of whether its counterpart allele on the other chromosome is dominant or recessive. Autosomal dominant disorders are produced by a single mutated dominant allele, even though its corresponding allele is normal. (See recessive allele)" (NCI, 1995, p. 26).

ELSI
Ethical, Legal, and Social Implications. This is a portion of the Human Genome Project that provided funding to examine the broader implications of the identification of genes. This included the ELSI working group and several task force projects to address some of these concerns plus grants for a variety of independently proposed projects.

Enzyme
"A protein that facilitates a specific chemical reaction" (NCI, 1995, p. 26).

FDA
Food and Drug Administration, a federal agency that oversees the safety of foods, drugs, and cosmetics (1938) and medical devices (1976, 1990).

FISH
Flourescent In-Situ Hybridization. This is a specialized laboratory approach used to study chromosomes.

Gene
In humans, each gene contains the code for specific proteins, the building blocks for the body’s structure and functioning.

Gene mapping
This process was part of the Human Genome Project. Researchers created schematic maps to show "the order [and location] in which genes, genetic markers, and other landmarks are found along the chromosomes." (NCI, 1995, p. 10)

Genetic testing
"Examining a sample of blood or other body fluid or tissue for biochemical, chromosomal, or genetic markers that indicate the presence or absence of genetic [mutations or genetic disorders]" (NCI, 1995, p. 27), including evidence of carrier status or a predisposition to developing a condition which has multifactorial components.

Gene therapy
This refers to efforts to use "a medical procedure that treats a disorder by replacing the faulty gene" (Weiss & Mackta, 1996, p. 138).

Genetic Alliance
A non-profit organization that provides "support, education, and advocacy . . . for all those living with genetic conditions" by bringing together organizations involved with advocacy, research, and health care.

Genetic engineering
Scientists are "altering genetic material to study genetic processes, and potentially, to correct genetic defects" (Weiss & Mackta, 1996, p. 138).

Genome
"All the genetic material in the chromosomes of a particular organism" (NCI, 1995, p. 27), such as the set of genes that make up the human organism (the human genome), or those that make up other creatures, such as a fruit fly (the fruit fly genome) or a mouse (the mouse genome).

Genomics
This is "the field of study that uses powerful computer technology to understand the structure and function of all genes in an organism based on knowledge of the organism’s entire DNA sequence." (website: www.tmbioscience.com/glossary 5/28/2003)

Genotype
This refers an individuals's specific set of alleles for any given set of genes, whether they are dominant or recessive. This might refer to one set of genes or the entire set of genes that a person has.

HCFA
Health Care Finance Administration. This is the part of the federal Department of Health and Human Services that dealt with Medicare and Medicaid and state waivers for Medicaid. It has been renamed the Centers for Medicare and Medicaid Services (CMS).

Heterozygote
This refers to "an individual, sometimes called a carrier, who has two different alleles [for a specific gene]" (Weiss & Mackta, 1996, p. 138).

HGMIS
The Human Genome Management Information System is part of the federal Department of Energy.

HGP
Human Genome Project. This was an international cooperative effort of laboratories to identify every gene in the set of human chromosomes and to identify their locations. In the United States the federally funded portion of the project ran from October 1, 1990 to its completion on April 14, 2003.

HHS
Department of Health and Human Services. This is the branch of the federal government that includes CMS, FDA, HRSA, and the National Institutes of Health.

HIPAA
A federal law titled the Health Insurance Portability and Accountability Act mandates that people have opportunities for continued access to health insurance. This applies to people who change jobs or become too old for insurance as a dependent. Rultes and regulations under HIPAA also provide rights regarding privacy and confidentiality of medical information and records.

HNPCC
This is a condition (Hereditary Non-polyposis Colorectal Cancer) with an inherited predisposition to colorectal cancer.

Homozygote
This refers to an individual who has two identical alleles of a specific gene.

IDEA
Individuals with Disabilities Education Act (Public Law 101-476). This was the federal law that continued the original Education of All Handicapped Children Act (Public Law 94-142).

IEP
Individual Educational Plan. This is a school plan developed jointly by parents and the school for children with disabilities which affect their learning (starting at age 3). It details goals and services to be provided in compliance with federal and state laws.

IFSP
Individual Family Service Plan. This is a plan developed jointly by parents and professionals for families with a child "at risk" for a disability (birth through age 2).

Imprinting
"A biochemical phenomenon that determines, for certain genes, which one of the pair of alleles, the mother's or the father's, will be active in that individual" (NCI, 1995, p. 28).

IRB
Institutional Review Board. This is a group that reviews plans for research for such issues as safety and ethics before an organization can implement the research.

ISONG
International Society of Nurses in Genetics, a professional organization which provides credentials in genetics for nurses at the master’s or bachelor’s level.

IVF
In-Vitro Fertilization. This is a procedure to unite an egg and a sperm outside the body, in a test tube in a laboratory setting.

IVF-ET
In-Vitro Fertilization with Embryo Transfer. This is an assisted reproductive technology technique (see ART). After the egg and sperm are united in the laboratory, the fertilized egg (embryo) is placed in (transferred to) the uterus of a woman for development.

JCAOH
Joint Committee on Acceditation of Hospitals. This organization sets national standards for hospitals, which also impacts standards for laboratories associated with hospitals.

Karotype
A karotype is "a systemized array of chromosomes from a single cell, prepared by photography, that demonstrates the number and morphology of the chromosomes" (Weiss & Mackta, 1996, p. 139).

LEA
Local Educational Agency. This is a term used in federal laws relating to education of students with disabilities. It usually means the local school district.

Linkage
" The relationship between two genes, or between an identifiable trait and a genetic disorder. Genes that are located relatively close to each other on the same chromosome are said to be linked" (Weiss & Mackta, 1996, p. 139).

Linkage analysis
" A gene-hunting technique that traces patterns of heredity in large, high-risk families, in an attempt to locate a disease-causing gene mutation by identifying traits that are co-inherited with it" (NCI, 1995, p. 28).

LRE
Least Restrictive Environment. This is a term used in federal laws relating to education of students with disabilities. It refers to a placement decision about choosing themost appropriate educational setting for a particular student -- the one closest to the regular education environment -- as long as appropriate supports or modifications are provided which enable this student with a disability to benefit from this educational setting.

MARHGN
Mid-Atlantic Regional Human Genetics Network -- Delaware, District of Columbia, Maryland, New Jersey, Pennsylvania, Virginia, West Virginia, one of the regional genetics networks.

Marker
"A detectable genetic variant. Some closely linked markers can be used to deduce the presence or absence of disease-producing genes" (Weiss & Mackta, 1996, p. 139).

MCHB
Maternal and Child Health Bureau, an agency under Title V, Health Resources and Services Adminstration, within the federal Department of Health & Human Services. This agency is the source of funding grants for many state and national programs related to genetics and maternal and child health.

MOD
March of Dimes. This is a national non-profit organization which focuses its literature and funding on improving the health of babies by preventing birth defects and infant mortality. Its newest focus is on research and education to help prevent premature births.

Molecule
"A group of atoms arranged to interact in a particular way; one molecule of any substance is the smallest physical unit of that particular substance" (NCI, 1995, p. 28).

Monosomy
An individual with monosomy has a single copy of one particular chromosome in each cell, rather than the usual pair. The result is 45 chromosomes instead of 46 chromosomes in each cell.

Mosaicism
Rather than uniform genetic make up throughout the body, the person with mosaicism has some variation between cells. "Normally all body cells would have the same number of chromosomes (46). But in mosaicism, some cells may have 47 chromosomes (such as extra chromosome 21 or X chromosome in some, but not all cells)" (website Yahoo! Health Encyclopedia: Mosaicism; 5/28/03).


MoSTGeNe
The Mountain States Genetic Services Network. It was formerly MSRGSN, the Mountain States Regional Genetic Services Network -- Arizona, Colorado, Montana, New Mexico, Utah, Wyoming, one of the regional genetics networks.

MSAFP
Maternal Serum Alpha-Fetoprotein. This refers to alpha-fetoprotein found in the pregnant woman's blood (i.e., maternal serum). (See AFP.)

MS/MS
See Tandem Mass Spectromety.

Multifactorial
"Caused by many genetic and nongenetic factors" (Weiss & Mackta, 1996, p. 139).

Mutation
"A change in the number, arrangement, or molecular sequence of a gene" (NCI, 1995, p.28). This include such changes as point mutations (a change in a single base pair in the DNA in a gene), missense mutations (the change results in the gene coding for a different amino acid), and frameshift mutations (an addition or subtraction in the DNA sequence so that the coding does not read in the original triplet sequences).

NCHGR
National Center for Human Genome Research. This part of the National Institutes of Health "oversees comprehensive research to develop a human genetic map, to examine the ethical, legal, and social issues arising from the research, and to develop the technology that must be transferred to appropriate users in the medical community and industry" (Weiss & Mackta, 1996, p. 129). NEMA Northeast Myelodysplasia Association. This group brings together professionals involved in regional spina bifida clinics in New York and New England. NERGG, Inc. New England Regional Genetics Group -- Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island, Vermont, one of the original regional genetics networks. It sponsors committees and projects in the New England area and is the parent group for the Consumer Concerns Committee.

NCHPEG
National Coalition for Health Professional Education in Genetics. This is an "organization of organizations" committed to a national effort to promote health professional education and access to information about advances in human genetics.

NIH
National Institutes of Health. This is an agency within the federal Department of Health and Human Services. It contains the National Center for Human Genome Research (see NCHGR). This agency also funds many other research projects, including some clinical trials.

NSGC
National Society of Genetic Counselors, a professional organization for genetic counselors.

NORD
National Organization for Rare Disorders. This is a non-profit organization that is "working toward the prevention, treatment, and cure of rare ‘orphan’ diseases" (website, rarediseases.org 5/28/2003)

NTD
Neural Tube Defect. This refers to an incomplete closing of the neural tube (which develops into the spinal cord) during development of the embryo early in pregnancy. This can lead to such conditions as spina bifida or anencephaly (incomplete development of the brain).

OB
Obstetrics/obstretrician. This medical specialty deals with pregnancy and delivery.

OB/GYN
Obstetrics-Gynecology. This medical specialty deals with pregnancy, delivery, and the reproductive system in women.

ORD
Office of Rare Disorders. This federal agency within the National Institutes of Health funds research on rare disorders, those affecting less than 200,000 people in the United States.

Orphan Drug Act
The federal legislation provides tax incentives and time-limited exclusive marketing to pharmaceutical companies who develop drugs to treat rare disorders.

PacNoRGG
Pacific Northwest Regional Genetics Group -- Alaska, Idaho, Oregon, Washington, one of the regional genetics networks.

PCR
Polymerase Chain Reaction. This is a technique used in molecular biology to study sections of DNA. It increases the amount of DNA available to use in genetic testing or research.

Pedigree
"A diagram showing a genetic family history and biological relationships among members of a family, often for several generations" (Weiss & Mackta, 1996, p. 139).

Penetrance
"A term indicating the likelihood that a given gene will actually result in [a genetic disorder] or disease" (NCI, 1995, p. 29).

PGD
Pre-implementation Genetic Diagnosis. This is the testing of a fertilized egg for genetic disorders after in vitro fertilization (see IVF), before placing the embryo in the uterus for development.

PHD/PHS
Public Health Department/Public Health Service. These are federal and state agencies which provide funding for services linked to public health issues.

Phenotype
"The physical characteristics into which genes are translated" (NCI, 1995, p. 27) as a result of the interaction of genes and the environment, both before and after birth.

PI
Principal Investigator. This term refers to the lead individual in a project or research grant.

PL 94-142
Public Law 94-142, Education of All Handicapped Children Act. This was the original federal law establishing the rights of children with disabilities to receive a free, appropriate public education in the least restrictive setting. It applied to all schools receiving federal funding for students from ages 5 through 20.

PL101-476
Public Law 101-476, Individuals with Disabilities Education Act. This was the federal law which reauthorized (legislatively continued) the rights of children with disabilities to a free, appropriate public education. Part B of the law applied to children from ages 3 through 20. Part H provided a broader range of services from birth through age 2.

Predictive gene tests
"Tests to identify gene [mutations] that may make a person susceptible to certain diseases or disorders" (NCI, 1995, p. 29).

Prenatal diagnosis
"Examining fetal cells taken from the amniotic fluid, the primitive placenta (chorion), or the umbilical cord for biochemical, chromosomal, or gene alterations" (NCI, 1995, p. 29).

Proteomics
This is the study of the proteins (amino acids) that are made by all the human genes, as well as the study of their action and interaction in the human body.

PUBS
Percutaneous Umbilical Blood Sampling. This is a procedure to take a blood sample from the baby's umbilical cord prenatally.

QA
Quality Assurance. This is an effort to control quality in laboratory testing to be sure test results are accurate, reliable, and meaningful and interpreted appropriately.

Recessive allele
This is "a gene that is expressed only when its counterpart allele on the matching chromosome is also recessive (not dominant). Autosomal recessive disorders develop in persons who receive two copies of the mutant gene, one from each parent who is a carrier. (See Dominant allele.)" (NCI, 1995, p. 29).

Recombinant DNA
"The hybrid DNA produced in the laboratory by joining pieces of DNA from different sources" (Weiss & Mackta, 1996, p. 139).

Regional genetics network
Originally MCHB had funded ten regional networks in the United States. When federal funding ended, four of the networks have continued to function on their own. - Mid-Atlantic Regional Human Genetics Network (MARHGN) -- Delaware, District of Columbia, Maryland, New Jersey, Pennsylvania, Virginia, West Virginia - Mountain States Genetic Services Network (MoStGeNe) -- Arizona, Colorado, Montana, New Mexico, Utah, Wyoming - New England Regional Genetics Group (NERGG, Inc.) Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island, Vermont - Pacific Northwest Regional Genetics Group (PacNoRGG) --Alaska, Idaho, Oregon, Washington

RFP
Research Funding Proposal. Agencies that grant monies announce what types of applications would be preferred and outline the steps to be taken by applicants.

RNA
Ribonucleic Acid. This is "a chemical similar to DNA. The several classes of RNA molecules play important roles in protein synthesis and other cell activities" (NCI, 1995, p. 30).

SCHIP
Also known as CHIP, this is the federally funded Children’s Health Insurance Program, run by the states. Its goal is to provide access to medical insurance for children whose family income is low but above the state’s standards to qualify for Medicaid. The federal budget provides a subsidy so families pay premiums on a sliding scale depending on income and family size.

Section 504
Federal civil rights law, a specific section of Rehabilitation Act of 1973. This protects people with disabilities from discrimination when certain programs receive federal funding.

Sex chromosomes
"The chromosomes (X and Y) involved in sex determination. Normal females have two X chromosomes in each cell, and normal males have one X and one Y" (Weiss & Mackta, 1996, p. 139).

SNP
Single nucleotide polymorphisms. This refers to the millions of individual human genetic variations in genes.

Tandem Mass-Spectrometry
This is a relatively new technology now used in a number of states as part of expanded newborn screening. A pair of mass spectrometers (MS-MS) can quickly analyze a number of amino acids and other compounds from the blood spot obtained in newborn screening. The results are compared with the cut off values set for newborn screening.

Teratogen
A terotogen can be a drug, chemical, physical agent or environmental condition that results in permanent changes in a developing baby due to exposure during the pregnancy. Examples would include thalidomide and German measles.

Translocation
"The transfer of all or one part of a chromosome to another location on the same chromosome or to a different chromosome after chromosome breakage" (Weiss & Mackta, 1996, p. 139).

Trisomy
Trisomy occurs when "there are three members of a given chromosome instead of the normal pair" (Weiss & Mackta, 1996, p. 140).

UAP
University Affiliated Programs. These programs provide multi-disciplinary services for families with a child with a developmental disability. The programs are affiliated with certain universities.

Vector
In gene therapy "a vector is a vehicle that can transport a gene into a cell like a taxi would drop off a passenger" (NORD, Orphan Disease Update, vol. 21, 1, winter 2002/2003, p.1)


X-linked inheritance
This "refers to any gene found on the X chromosome or traits determined by such genes; [it also refers] to the specific mode of inheritance of such genes" (Weiss & Mackta, 1996, p. 140).

References:
National Cancer Institute. 1995. Understanding Gene Testing. U.S. Department of Health and Human Services, NIH Publication No. 96-3905. NORD, Orphan Disease Update, vol. 21, 1, winter 2002/2003, p.1 website, Medical Genetic Services, Marshfield Clinic, 5/28/2003 website, rarediseases.org, 5/28/2003 website, tmbioscience.com/glossary, 5/28/2003 website, Yahoo! Health Encyclopedia: Mosaicism, 5/28/03 Weiss, Joan O., & Mackta, Jayne S. 1996. Starting and Sustaining Genetic Support Groups. Johns Hopkins University Press: Baltimore.