Genetic Counselling — 2014 Paper I

Approach

• Demand of Question: Explain genetic counselling as a process of assessing and communicating genetic risk to individuals and families.
• Structuring the Response: Define it, describe its major steps and applications, and mention ethical principles.
• Key Dimensions to Cover: Pedigree, recurrence risk, diagnosis, carrier detection, prenatal testing, informed choice and non-directiveness.

Model Answer

Introduction: Genetic counselling is a communication process through which individuals or families receive information about the nature, inheritance, recurrence risk and management of genetic disorders.

It generally involves:

1. taking a detailed family history;
2. preparing a pedigree;
3. clinical and laboratory diagnosis;
4. estimating recurrence risk;
5. explaining available reproductive and medical options.

It is useful in conditions such as:

• thalassaemia;
• sickle-cell disease;
• haemophilia;
• Down syndrome;
• certain inherited metabolic disorders.

Major applications

Genetic counselling may involve:

• carrier detection;
• prenatal diagnosis;
• newborn screening;
• preconception counselling;
• interpretation of genetic tests.

Thus:

Family history → Risk assessment → Testing → Informed decision

An important principle is non-directiveness: the counsellor provides accurate information but does not impose reproductive decisions.

Ethical concerns include:

• confidentiality;
• informed consent;
• psychological stress;
• possible discrimination.

Conclusion: Genetic counselling connects genetics with preventive medicine by enabling families to understand inherited risk and make informed, autonomous and ethically supported decisions.