ABNORMAL:

Any change from the 'correct' or 'usual'. It may not necessarily mean harmful or undesirable; it can equally mean atypical, unusual or uncommon. When used in reference to genes, an abnormal gene may result in a genetic condition.

ABNORMALITY:

A departure from the normal with respect to same attribute.

ANENCEPHALY:

A congenital birth defect caused by the improper closure of the neural tube at the anterior end resulting in absence of the skull and partial or complete absence of the cerebral hemispheres.

ANOMALY:

Marked deviation from the normal standard, especially as a result of congenital defects.

ASSESSMENT:

The systematic process of collecting relevant client data for the purpose of determining actual or potential health problems and functional status. Methods used to obtain data include interviews, observations, physical examinations, review of records, collaboration with colleagues, and consideration of applicable literature and research.

BIRTH DEFECT

A structural, functional or metabolic abnormality present at birth that results in physical or mental disability or is fatal. Birth defects may or may not have a genetic cause. Sometimes referred to as congenital defect.

CDC

Center for Disease Control and Prevention

CHROMOSOME:

One of the threadlike "packages" of genes and other DNA in the nucleus of a cell. Different kinds of organisms have different numbers of chromosomes. Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers.

CLINICAL GENETICS

The diagnosis, prognosis, and in some cases, the treatment of genetic diseases.

CLINICAL GENETIC SERVICES

Services designed to screen, diagnose, treat, or identify risks for disorders or conditions with a genetic component. Clinical genetic services also includes counseling and support services to assist clients in making voluntary decisions regarding testing and/or treatment.

CORN

Council of Regional Networks for Genetics Services

CONGENITAL:

Something that is unusual or different at birth.

CONGENITAL ABNORMALITY:

An anomaly, deformity, malformation, impairment or dysfunction at birth.

CONGENITAL ANOMALY:

Marked deviation from the normal standard existing at birth.

CONGENITAL DEFECT:

A birth defect.

CYTOGENETICS LABORATORY

Performs chromosomal analysis on lymphocytes, fibro-blasts, bone marrow cells, amniotic fluid cells, chorionic villus tissues, and gynecological tumors.

DEVELOPMENTAL DISABILITY:

A chronic disability of a person which:

•  Is attributable to a mental or physical impairment or combination of mental and physical impairments.

•  Is manifested before the person attains age twenty-two.

•  Is likely to continue indefinitely.

•  Results in substantial functional limitations in three or more of the following areas of major life activity:

(1) Self-care

(2) Receptive and expressive language

(3) Learning

(4) Mobility

(5) Self-direction

(6) Capacity for independent living

(7) Economic sufficiency

•  Reflects the person's needs for a combination and sequence of special, interdisciplinary, or generic care, treatment, or other services which are of lifelong or extended duration and are individually planned and coordinated.

DIAGNOSTIC TEST :

A test that is able to identify (diagnose) a recognised condition. Prenatal diagnostic tests include; CVS, amniocentesis and some ultrasound imaging.

DISABILITY:

Handicap; disability is the condition of being unable to perform as a consequence of physical or mental unfitness; an impairment or defect of one or more organs or members.

FAS

Fetal alcohol syndrome.

GENE:

The basic unit of heredity; a segment of DNA which contains the information for a specific characteristic or function. May not act alone.

GENETIC CONDITION :

A genetic condition is caused by a change in the genetic information. Genetic conditions may be caused by a mutation in a single gene or may be caused by a change in chromosome structure or number.

GENETIC COUNSELING :

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.

GENETIC COUNSELOR:

A health professional with a specialized graduate degree and experience in the areas of medical genetics and counseling. Genetic counselors enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.

GENETIC DIAGNOSIS

Cytogenetic, biochemical, or molecular studies, and/or identification of a clinical phenotype

that identifies the individual as having a genetic condition.

GENETIC SCREENING

Testing a population to identify individuals at risk for a genetic disease or for transmitting it.

GENETICS:

The science of heredity; the study of genes and the way they determine traits and characteristics passed from generation to generation. In contrast to genomics, "genetics" refers to a single gene and its effects.

GENOMICS:

The study of the entire genome, including the complex interactions among multiple genes as well as between genes and the environment. Applied to public health, genomics offers the potential to better understand the role of genes, environment, and behavior as risk factors for complex, chronic diseases.

HUMAN GENOME PROJECT

An international research project to map each human gene and to completely sequence the human DNA.

IHS

Indian Health Services

INHERITED

Transmitted through genes from parents to offspring.

MALFORMATION

A structural defect in an organ or part of an organ that results from abnormal embryonic development.

NEURAL TUBE DEFECT (NTD):

An abnormality which results when the neural tube in the fetus fails to close. Spina bifida and anencephaly are forms of NTD.  

NEWBORN SCREENING:

Tests of newborns to screen for serious treatable diseases most of which are genetic. The newborn screening tests done in the United States are decided on a state-by-state basis.

NURSE GENETICIST:

A registered nurse with a high degree of knowledge, skill, and competence in the specialized area of genetic nursing. These skills are made directly available through the provision of nursing care to clients and are indirectly available through guidance and planning of care with other nursing personnel. Clinical nurse specialists hold a master's degree in nursing, preferably with an emphasis in clinical nursing.

PATIENT (CLIENT)

•  A person with or a couple who have had a child, or who are at risk for having a child, with a genetic condition;

•  A presymptomatic person or family at risk for a genetic condition;

•  A person who is susceptible to a disease which has a genetic component;

•  A person or group who needs or requests genetic information; or

•  A group, community, or population with or at risk for genetic condition.

PEDIGREE:

A simplified diagram of a family's genealogy that shows family members' relationships to each other and how a particular trait or disease has been inherited.

PHENOTYPE:

The physical and/or biochemical characteristics of a person, an animal or other organism which are determined by their genetic makeup in conjunction with the environment.

PHENYLKETONURIA (PKU):

A disorder screened by the Newborn Screening Program. This metabolic disorder is an inherited defect in which the body cannot use the amino acid phenylalanine properly. Phenylalanine is found in all dietary protein. Excess levels of phenylalanine metabolites accumulate in the blood, and can cause severe brain damage and retardation if left untreated.

PRENATAL DIAGNOSIS:

The detection of fetal abnormalities during pregnancy

PRENATAL SCREENING :

Tests during pregnancy to assess the possibility that a fetus is affected with a particular condition. These tests are not 100% accurate.

RECURRENCE RISK:

The risk that an inherited disorder will occur again in a family

RUSSELL-SILVER SYNDROME

Russell-Silver syndrome is a disorder present at birth that involves poor growth, low birth weight, short height, and differences in the size of the two sides of the body.

SPINA BIFIDA

A birth defect (a congenital malformation) in which there is a bony defect in the vertebral column so that part of the spinal cord, which is normally protected within the vertebral column, is exposed.

SUSCEPTIBLE

1 ) having little resistance to a specific infectious disease : capable of being infected
2 ) predisposed to develop a noninfectious disease < susceptible to diabetes>
3 ) abnormally reactive to various drugs

SYNDROME:

A group of characteristics and/or symptoms that occur together in a recognisable pattern.

TERATOGEN:

Any agent/substance that produces or increases the incidence of birth defects or congenital abnormalities by interfering with development of the embryo during pregnancy.