The study of the etiology, pathogenesis, and natural history
of a disorder thought to be genetic in origin (Web dictionary)
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).
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.
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,
(Mange and Mange, 1990).
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
PUBS (Percutaneous Umbilical Blood Sampling)
Blood / skin biopsy for gene testing (to identify a mutation)