Genetic counselling is the process by which patients or relatives, at risk of an

inherited disorder, are advised of the consequences and nature of the disorder,
the probability of developing or transmitting it, and the options open to them in
management and family planning in order to prevent, avoid or ameliorate it. This
complex process can be seen from diagnostic (the actual estimation of risk) and
supportive aspects.
A genetic counsellor is a medical genetics expert with a Master of Science
degree. Genetic counsellors provide information and support to families who
have members with birth defects or genetic disorders, and to families who may
be at risk for a variety of inherited conditions. Genetic counsellors are present at
high risk or specialty prenatal clinics that offer prenatal diagnosis, paediatric care
centres, and adult genetic centres. Genetic counselling can occur before
conception (i.e. when one or two of the parents are carriers of a certain trait)
through to adulthood (for adult onset genetic conditions such as Huntington's
disease or hereditary cancer syndromes).
Any person who may have a genetic condition, has a family history of an
inherited disease, or has other risk factors for a genetic condition or birth defect
may benefit from seeing a genetic counsellor. If a person's family history
indicates the possibility of an inherited disease, their doctor may give them a
referral. Some pregnant women may also be referred to genetic counsellors to
receive counselling about the risks of birth defects or for help in interpreting test
results.
Parts of a genetic consultation:
1. Intake (information gathering) past genetic files, patient agenda (their
knowledge and questions)
2. Genetic testing pre-symptomatic diagnosis e.g. predictive, newborn and
carrier testing
3. Diagnosis detailed family pedigree, examination, identify pattern of
associated features + investigation
4. Information build on patients previous knowledge, description of the
condition and inheritance pattern of it
5. Risk assessment from pedigree analysis + test results, convey to the
patient the risk and assess their perception of it
6. Informed decision making information, options, personal beliefs and
values, decisions free from coercion and support the patients decision
7. Follow-up summary letter to the family and referring doctor, arrange
review appointment for further information and management.
Issues during decision making = emotional state of patient and their
perceived burden e.g. financial, quality of life, consideration of family
members

Reference = lectures on genetic counselling and

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