Definitions

Medical Genetics


The study of the etiology, pathogenesis, and natural history of a disorder thought to be genetic in origin (Web dictionary)

Genetic Counselling

Genetic counselling is a process of communication by which patients or relatives at risk for a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing it (or transmitting it) and of the ways in which this may be prevented, avoided, or ameliorated (Harper, 2004).

Genetic counsellors provide psychosocial support to families/individuals in need who may be affected by, or at risk, or caring for someone with a genetic condition.

Genetic Screening

A systematic search of currently healthy persons (or fetus’s) to have either:
A particular genotype that may cause significant health concerns to subsequent offspring (i.e. Thalassemia, CF, Tay-Sachs)
An increased risk for a particular condition (i.e. Down syndrome, Trisomy 18).
(Mange and Mange, 1990).

Genetic Testing

A diagnostic test that looks at an individual’s chromosomes or genes to establish (or help rule out) a particular diagnosis.
Examples of genetic testing include:
chorionic villi sampling
amniocentesis
PUBS (Percutaneous Umbilical Blood Sampling)
Blood / skin biopsy for gene testing (to identify a mutation)


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March 2, 2010