Genetic Counselling

Genetic Counselling

What is genetic counselling?
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 adaptations to the risk or condition.
- Diagnostic, carrier, predictive and presymptomatic genetic testing where appropriate

Who does it?
- clinical geneticist (with medical expertise, especially in making diagnosis)
- genetic counsellors (graduate health professionals with certified special training)
- social workers (special interest in genetics – works with geneticist, counsellors and support groups)

Indications for Genetic Counselling
- child born with a possible genetic problem
- parents or other family members who are concerned with well being of future children
- repeated miscarriages
- increasing maternal age
- family history of genetic disorders
- consanguineous couple
- concern about exposure to environmental agents such as drugs, medication, chemicals or radiation that might cause birth defects.

Process for Genetic Counselling
1.Assessment: Gathering information
-Explore with the patient and family their perceptions
(refer to site for more info)
-Gather history
-Pedigree analysis
-Review family’s social history (education, employment)
-Sources of psychosocial support
-Identify potential ethical issues (confidentiality, insurability, discrimination)
-Perform physical examination as needed.

2.Evaluation: Interpreting medical and family history, results of physical examination and tests
-Consult relevant references.
-Compare patient's history and exam to known diagnoses.
-Discuss diagnostic impression.
~Clear diagnosis - Share information about the condition
~Differential diagnosis - Suggest further tests or evaluations
~Unknown diagnosis - Discuss what known diagnoses are ruled out, follow over time

3.Communication: Sharing information about the condition (within the family's ability to understand the information)
Review the details about the disorder in question including:
-Expected course of the disease
-Management issues, and possible treatments or interventions
-Underlying genetic cause if known, including pattern of inheritance
-Describe risks to family members compared with general population risks.
-Discuss reproductive options

4. Support: Helping the family cope
-Recognize and discuss the emotional responses
-Explore strategies for communicating information to others, especially family members who may be at risk.

5.Follow-up: Maintaining ongoing communication
-Arrange for follow-up diagnostic testing or management appointments
-Document the content of the consultation
-Contact the patient to assess level of understanding and response to decisions made.
-Be available to answer future questions.

Interpretation of Risk
By pedigree analysis, genetic testing.

Predictive Testing
use of a genetic test in an asymptomatic person to predict future risk of disease (eg. Huntingtons)
The hope underlying such testing is that early identification of individuals at risk of a specific condition will lead to reduced morbidity and mortality through targeted screening, surveillance, and prevention.

Issues: individual versus family
Current versus future

Links
http://www.genetics.com.au/pdf/factsheets/fs03.pdf
http://kidshealth.org/parent/medical/genetic/genetic_counseling.html?tracking=P_RelatedArticle#
http://www.bmj.com/cgi/content/full/322/7293/1052