Genetics

Question 1

Define Genetic Counselling

Answer 1

It can be defined as a communication process which aims at providing information and enables the consultand to understand the medical dx and its implications with respect to prognosis and treatment optios, inheritance patterns and risk of recurrence and choices available

Question 2

The process of Genetic Counselling

Answer 2

It is important that the counsellee or consultand be empowered to make decisions in keeping with their
own moral and religious values based on facts provided by the counsellor.

The choices nevertheless, have to conform to the legal requirements of the country in which they reside (e.g. no termination of pregnancy in conservative Muslim
countries or Brazil).

The counsellor has no right to enforce his/her own attitudes or opinions even though often asked to do so.

Because of this, genetic counselling is described as non-directive and must also be non-coercive and
non-judgmental

Question 3

Steps in the process of Genetic Counselling

Answer 3

1. Confirm the Diagnosis
2. Explain the diagnosis and the mechanism by which the disease was caused as far as possible
3. Calculate the genetic risk and present to the family in an understandable manner
4. Explain options for treatment and options to address,reduce or even avoid,the risk of reccurence
5. Explain the expected outcome esp where late and unforseen complications such as the development of cancer can arise
6. Provide and be available for long term support

Question 4

Principles required by the professional for Genetic Counselling

Answer 4

Knowledge about the disorder and tests available (read up)

Communication skills

Empathy

Self awareness, do not carry own baggage

Time

Place

Plan of action (especially at a second consultation)

Respect (for the family and their decisions)

Understanding of the mourning process

Question 5

Principles required by the parent for genetic counselling

Answer 5

The parents need:

Honest and correct information

Privacy

Be part of the management

Be part of the solution

Be informed in a language they understand

Time

To move at own tempo

To be allowed to ask questions

Be left with hope but not inappropriate expectations

To express themselves

Not to mourn too early

Question 6

Reactions to Genetic Counselling by Parents

Answer 6

Anger

Disappointment

Guilt feelings

Embarrassment

Fear

Over-protectiveness

Excessive attention to handicapped child or sibs

Disruption of family unit (it is dad’s fault, it comes from her family)

Denial

Disbelief

Overcompensation

Relief (we knew something was wrong, but not what)

Looking for a second/third/fourth opinion

Acceptance

Conflict between parents regarding their choices